Variant report

Variant	nsv872470
Chromosome Location	chr1:156210557-156223823
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:660)
CpG islands
(count:1713)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:156219271-156219294	K562	blood:	n/a	n/a
2	ATF2	chr1:156211214-156211718	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr1:156215801-156216894	A549	lung:	n/a	n/a
4	BCL3	chr1:156216463-156217014	A549	lung:	n/a	chr1:156216953-156216961
5	BCL3	chr1:156216981-156217341	GM12878	blood:	n/a	chr1:156217228-156217241 chr1:156217155-156217168
6	BCL3	chr1:156212034-156212711	A549	lung:	n/a	n/a
7	BCL3	chr1:156211194-156211914	A549	lung:	n/a	n/a
8	BCL3	chr1:156217093-156217788	A549	lung:	n/a	chr1:156217228-156217241 chr1:156217155-156217168
9	BCL3	chr1:156210630-156211415	A549	lung:	n/a	n/a
10	BCL3	chr1:156217120-156217657	A549	lung:	n/a	chr1:156217228-156217241 chr1:156217155-156217168
11	BCL3	chr1:156215210-156216106	GM12878	blood:	n/a	n/a
12	BCLAF1	chr1:156215345-156215956	GM12878	blood:	n/a	n/a
13	CHD1	chr1:156215569-156215679	GM12878	blood:	n/a	n/a
14	CHD2	chr1:156216821-156216972	K562	blood:	n/a	n/a
15	CHD2	chr1:156215988-156216057	HepG2	liver:	n/a	n/a
16	CHD2	chr1:156216584-156216601	K562	blood:	n/a	n/a
17	CHD2	chr1:156215631-156215655	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr1:156217900-156218050	WERI-Rb-1	eye:	n/a	chr1:156217923-156217941
19	CTCF	chr1:156216906-156216998	NHEK	skin:	n/a	n/a
20	CTCF	chr1:156215391-156215488	GM19239	blood:	n/a	n/a
21	CTCF	chr1:156215520-156215670	GM06990	blood:	n/a	n/a
22	CTCF	chr1:156215589-156215694	GM12891	blood:	n/a	n/a
23	CTCF	chr1:156217820-156217970	NHEK	skin:	n/a	chr1:156217923-156217941
24	CTCF	chr1:156210600-156210654	H1-hESC	embryonic stem cell:	n/a	chr1:156210639-156210648
25	CTCF	chr1:156214135-156214143	Fibrobl	skin:	n/a	n/a
26	CTCF	chr1:156216780-156216930	NHLF	lung:	n/a	chr1:156216881-156216899
27	CTCF	chr1:156216780-156216930	WERI-Rb-1	eye:	n/a	chr1:156216881-156216899
28	CTCF	chr1:156217909-156217944	H1-hESC	embryonic stem cell:	n/a	chr1:156217923-156217941
29	CTCF	chr1:156216700-156216850	AG04449	skin:	n/a	n/a
30	CTCF	chr1:156210540-156210690	HBMEC	blood vessel:	n/a	chr1:156210639-156210648
31	CTCF	chr1:156215500-156215650	SAEC	small airway:	n/a	n/a
32	CTCF	chr1:156214080-156214230	BE2_C	brain:	n/a	n/a
33	CTCF	chr1:156214075-156214230	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr1:156222630-156222834	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr1:156217800-156217950	HEEpiC	esophagus:	n/a	chr1:156217923-156217941
36	CTCF	chr1:156222689-156222874	MCF-7	breast:	n/a	n/a
37	CTCF	chr1:156216680-156216830	HCM	heart:	n/a	n/a
38	CTCF	chr1:156216820-156216970	BE2_C	brain:	n/a	chr1:156216881-156216899
39	CTCF	chr1:156222691-156222815	MCF-7	breast:	n/a	n/a
40	CTCF	chr1:156214080-156214230	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr1:156216320-156216470	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr1:156217860-156218010	HBMEC	blood vessel:	n/a	chr1:156217923-156217941
43	CTCF	chr1:156214060-156214210	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr1:156216540-156216690	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr1:156222701-156222826	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr1:156217823-156218008	HepG2	liver:	n/a	chr1:156217923-156217941
47	CTCF	chr1:156222500-156222650	BE2_C	brain:	n/a	n/a
48	CTCF	chr1:156222678-156222781	LNCaP	prostate:	n/a	n/a
49	CTCF	chr1:156222736-156222813	GM12892	blood:	n/a	n/a
50	CTCF	chr1:156222680-156222830	HCT-116	colon:	n/a	n/a

(count:1713 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:156215655-156215705	AG04449	skin:	fetal
2	chr1:156211529-156211579	SKMC	muscle:	n/a
3	chr1:156211801-156211851	SAEC	small airway:	n/a
4	chr1:156218113-156218163	GM12891	blood:	n/a
5	chr1:156215951-156216001	AG09319	gingival:	n/a
6	chr1:156215655-156215705	AG04449	skin:	fetal
7	chr1:156211529-156211579	SKMC	muscle:	n/a
8	chr1:156211801-156211851	SAEC	small airway:	n/a
9	chr1:156218113-156218163	GM12891	blood:	n/a
10	chr1:156215951-156216001	AG09319	gingival:	n/a
11	chr1:156218676-156218726	H1-hESC	embryonic stem cell:	embryo
12	chr1:156217801-156217851	SK-N-SH	brain:	n/a
13	chr1:156217178-156217228	CMK	blood:	n/a
14	chr1:156219217-156219267	IMR90	lung:	fetal
15	chr1:156212578-156212628	GM12892	blood:	n/a
16	chr1:156215727-156215777	NT2-D1	testis:	n/a
17	chr1:156212005-156212055	AG10803	skin:	n/a
18	chr1:156215418-156215468	BJ	skin:	n/a
19	chr1:156215418-156215468	HRPEpiC	eye:	n/a
20	chr1:156211415-156211465	GM12892	blood:	n/a
21	chr1:156211840-156211890	U87	brain:	n/a
22	chr1:156215038-156215088	AG10803	skin:	n/a
23	chr1:156211851-156211901	HMEC	breast:	n/a
24	chr1:156218094-156218144	HEEpiC	esophagus:	n/a
25	chr1:156211529-156211579	AG09319	gingival:	n/a
26	chr1:156218113-156218163	BE2_C	brain:	n/a
27	chr1:156219217-156219267	HepG2	liver:	n/a
28	chr1:156215727-156215777	SK-N-SH	brain:	n/a
29	chr1:156217981-156218031	AG04450	lung:	fetal
30	chr1:156211434-156211484	AG04449	skin:	fetal
31	chr1:156215418-156215468	SK-N-SH	brain:	n/a
32	chr1:156211609-156211659	PANC-1	pancreas:	n/a
33	chr1:156215655-156215705	Caco-2	colon:	n/a
34	chr1:156211801-156211851	AG04449	skin:	fetal
35	chr1:156219217-156219267	Hela-S3	cervix:	n/a
36	chr1:156217981-156218031	K562	blood:	n/a
37	chr1:156215951-156216001	HRE	kidney:	n/a
38	chr1:156217942-156217992	HMEC	breast:	n/a
39	chr1:156211609-156211659	HRE	kidney:	n/a
40	chr1:156215951-156216001	Jurkat	blood:	n/a
41	chr1:156211609-156211659	GM12892	blood:	n/a
42	chr1:156211801-156211851	GM06990	blood:	n/a
43	chr1:156215727-156215777	HL-60	blood:	n/a
44	chr1:156215655-156215705	Jurkat	blood:	n/a
45	chr1:156218094-156218144	MCF-7	breast:	n/a
46	chr1:156211434-156211484	HNPCEpiC	eye:	n/a
47	chr1:156211896-156211946	IMR90	lung:	fetal
48	chr1:156217178-156217228	PFSK-1	brain:	n/a
49	chr1:156217178-156217228	Jurkat	blood:	n/a
50	chr1:156211609-156211659	Hela-S3	cervix:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:156214598..156216781-chr1:156219368..156221677,2	MCF-7	breast:
2	chr1:156218809..156220710-chr1:156221332..156224363,3	MCF-7	breast:
3	chr1:156181363..156183903-chr1:156211946..156213935,2	K562	blood:
4	chr1:156218201..156220896-chr1:156236079..156238072,2	MCF-7	breast:
5	chr1:156215020..156217611-chr1:156253228..156255552,2	K562	blood:
6	chr1:156214834..156217523-chr1:156250496..156253044,2	K562	blood:
7	chr1:156118455..156120735-chr1:156211207..156213890,2	MCF-7	breast:
8	chr1:156217088..156223481-chr1:156223797..156227498,6	K562	blood:
9	chr1:156083671..156086099-chr1:156211957..156213852,2	MCF-7	breast:
10	chr1:156127190..156128698-chr1:156212571..156214890,2	K562	blood:
11	chr1:156203485..156205016-chr1:156214219..156216809,2	MCF-7	breast:
12	chr1:156218223..156220815-chr1:156233898..156236629,2	K562	blood:
13	chr1:156219284..156221602-chr1:156221883..156224830,2	MCF-7	breast:
14	chr1:156180909..156183425-chr1:156218217..156220152,2	MCF-7	breast:
15	chr1:113161532..113162102-chr1:156221508..156222008,2	Hela-S3	cervix:
16	chr1:156219284..156221602-chr1:156221883..156224830,2	MCF-7	breast:
17	chr1:156210233..156212328-chr1:156219249..156220881,2	K562	blood:
18	chr1:156212445..156215383-chr1:156241215..156243298,2	MCF-7	breast:
19	chr1:156215004..156217547-chr1:156222026..156224198,2	MCF-7	breast:
20	chr1:156217110..156217611-chr6:36953555..36954438,2	Hela-S3	cervix:
21	chr1:156216698..156219216-chr1:156259674..156262599,2	K562	blood:
22	chr1:156104704..156106461-chr1:156220190..156223114,2	K562	blood:
23	chr1:156122700..156125360-chr1:156215691..156218438,2	MCF-7	breast:
24	chr1:156221244..156223171-chr1:156251506..156253586,2	K562	blood:
25	chr1:156212668..156217523-chr1:156250463..156253728,4	K562	blood:
26	chr1:156183655..156186549-chr1:156214588..156216223,2	MCF-7	breast:
27	chr1:156191291..156194224-chr1:156215926..156217545,2	K562	blood:
28	chr1:156104742..156107610-chr1:156210647..156213475,2	K562	blood:
29	chr1:156220884..156223171-chr1:156251438..156254587,4	K562	blood:

No data

Variant related genes	Relation type
BGLAP	TF binding region
PAQR6	TF binding region
SMG5	TF binding region
BGLAP	CpG island
PAQR6	CpG island
SMG5	CpG island
ENSG00000196189	chromatin interactions
ENSG00000198715	chromatin interactions
ENSG00000260238	chromatin interactions
ENSG00000116489	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000242252	chromatin interactions
ENSG00000160781	chromatin interactions
ENSG00000198952	chromatin interactions
ENSG00000160789	chromatin interactions
ENSG00000163472	chromatin interactions
ENSG00000137409	chromatin interactions
ENSG00000160783	chromatin interactions

Extended variants
information (count: 631 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:631 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12090516	chr1:156210557-156210558	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372153641	chr1:156210590-156210591	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs544448081	chr1:156210634-156210635	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs190782203	chr1:156210643-156210644	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs192459433	chr1:156210651-156210652	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs544849052	chr1:156210655-156210656	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs532933303	chr1:156210676-156210677	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs184719257	chr1:156210731-156210732	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs376426685	chr1:156210779-156210780	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs530749559	chr1:156210808-156210809	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs147736313	chr1:156210809-156210810	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs536755310	chr1:156210811-156210812	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555221265	chr1:156210844-156210845	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs56706399	chr1:156210852-156210853	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534353582	chr1:156210867-156210868	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs550452446	chr1:156210875-156210876	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs58000642	chr1:156210905-156210906	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs35289616	chr1:156210935-156210936	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs571133251	chr1:156210973-156210974	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs142653940	chr1:156210979-156210980	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs537379179	chr1:156211024-156211025	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs189041562	chr1:156211033-156211034	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs557597302	chr1:156211090-156211091	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs181472726	chr1:156211097-156211098	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs185717493	chr1:156211194-156211195	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs112010685	chr1:156211199-156211200	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs113800465	chr1:156211268-156211269	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs561265462	chr1:156211269-156211270	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs528466270	chr1:156211276-156211277	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs540290502	chr1:156211296-156211297	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs369651550	chr1:156211348-156211349	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs559565665	chr1:156211378-156211379	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs533067598	chr1:156211379-156211380	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs145741147	chr1:156211383-156211384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs569512751	chr1:156211392-156211393	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs138407841	chr1:156211409-156211410	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs549049161	chr1:156211410-156211411	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs567274961	chr1:156211416-156211417	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs534580573	chr1:156211424-156211425	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs552708573	chr1:156211428-156211429	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs571926707	chr1:156211435-156211436	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs539342494	chr1:156211438-156211439	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs557732398	chr1:156211439-156211440	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs575898953	chr1:156211475-156211476	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs34472658	chr1:156211476-156211477	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189459216	chr1:156211484-156211485	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs560997032	chr1:156211568-156211569	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs35283021	chr1:156211584-156211585	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540582075	chr1:156211609-156211610	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs565139461	chr1:156211611-156211612	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:156186800-156214600	Weak transcription	Stomach Mucosa	stomach
2	chr1:156188400-156215200	Weak transcription	Right Atrium	heart
3	chr1:156189200-156213800	Strong transcription	Fetal Stomach	stomach
4	chr1:156192000-156214200	Weak transcription	Fetal Brain Male	brain
5	chr1:156195000-156212600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:156196000-156211600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:156196000-156212600	Strong transcription	Placenta	Placenta
8	chr1:156196000-156214200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:156198000-156211000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:156198000-156211400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:156201200-156214000	Strong transcription	Fetal Muscle Leg	muscle
12	chr1:156201400-156211400	Strong transcription	Primary T cells from cord blood	blood
13	chr1:156201400-156213600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:156201600-156212600	Strong transcription	Adipose Nuclei	Adipose
15	chr1:156201600-156212800	Strong transcription	Stomach Smooth Muscle	stomach
16	chr1:156201600-156213000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr1:156201600-156213600	Strong transcription	Brain Germinal Matrix	brain
18	chr1:156201600-156213800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:156201800-156211600	Strong transcription	Liver	Liver
20	chr1:156201800-156211600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr1:156202000-156211800	Strong transcription	Spleen	Spleen
22	chr1:156202200-156211400	Strong transcription	Ovary	ovary
23	chr1:156202600-156210800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:156202800-156211400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:156202800-156211400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:156203000-156212800	Strong transcription	Thymus	Thymus
27	chr1:156203200-156210800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:156203200-156212200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:156203200-156212400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:156203200-156212600	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:156203400-156210600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:156203400-156211000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr1:156203400-156211200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:156203400-156211400	Strong transcription	Duodenum Mucosa	Duodenum
35	chr1:156203400-156211400	Strong transcription	Dnd41	blood
36	chr1:156203400-156211600	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:156203400-156212000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:156203400-156212800	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:156203600-156212200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:156203600-156212600	Strong transcription	Left Ventricle	heart
41	chr1:156203600-156212600	Strong transcription	Pancreas	Pancrea
42	chr1:156203800-156213000	Strong transcription	Gastric	stomach
43	chr1:156203800-156213800	Strong transcription	Fetal Intestine Large	intestine
44	chr1:156203800-156214000	Strong transcription	Fetal Intestine Small	intestine
45	chr1:156204000-156210800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:156204200-156210600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:156204200-156211000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:156204200-156211000	Weak transcription	NH-A	brain
49	chr1:156205400-156211000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:156205600-156210800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links