Variant report

Variant	nsv1050598
Chromosome Location	chr12:123991646-124214332
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6198)
CpG islands
(count:5377)
Chromatin interactive
region (count:378)
LncRNA
region (count:17)
Mature miRNA
region (count: 1)
miRNA target
sites (count:5)

(count:6198 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:124055889-124056158	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:124118134-124118531	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:124086179-124086778	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:124066707-124067005	K562	blood:	n/a	n/a
5	ARID3A	chr12:124118202-124118430	K562	blood:	n/a	n/a
6	ARID3A	chr12:124003707-124004059	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:124018494-124018555	K562	blood:	n/a	n/a
8	ARID3A	chr12:124080339-124081019	HepG2	liver:	n/a	n/a
9	ARID3A	chr12:124203292-124204824	K562	blood:	n/a	n/a
10	ARID3A	chr12:124017367-124017624	K562	blood:	n/a	n/a
11	ARID3A	chr12:124201918-124202095	K562	blood:	n/a	n/a
12	ARID3A	chr12:124197800-124198689	K562	blood:	n/a	n/a
13	ARID3A	chr12:124066719-124067024	HepG2	liver:	n/a	n/a
14	ARID3A	chr12:124196794-124196994	K562	blood:	n/a	n/a
15	ARID3A	chr12:124055016-124055130	HepG2	liver:	n/a	n/a
16	ARID3A	chr12:124086169-124086751	K562	blood:	n/a	n/a
17	ARID3A	chr12:124068840-124069198	HepG2	liver:	n/a	n/a
18	ATF1	chr12:124068826-124069223	K562	blood:	n/a	n/a
19	ATF1	chr12:124086461-124086850	K562	blood:	n/a	n/a
20	ATF1	chr12:124118054-124118572	K562	blood:	n/a	n/a
21	ATF1	chr12:124197903-124198415	K562	blood:	n/a	n/a
22	ATF1	chr12:124204167-124205067	K562	blood:	n/a	n/a
23	ATF2	chr12:124118041-124118671	GM12878	blood:	n/a	n/a
24	ATF2	chr12:124196547-124196955	GM12878	blood:	n/a	n/a
25	ATF2	chr12:124144752-124145277	GM12878	blood:	n/a	n/a
26	ATF2	chr12:124068644-124069075	GM12878	blood:	n/a	n/a
27	ATF2	chr12:124199625-124200216	GM12878	blood:	n/a	n/a
28	ATF2	chr12:124085993-124086936	GM12878	blood:	n/a	n/a
29	ATF2	chr12:124068622-124069127	GM12878	blood:	n/a	n/a
30	ATF2	chr12:124198355-124199257	GM12878	blood:	n/a	n/a
31	ATF2	chr12:124086303-124086746	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF2	chr12:124068634-124069051	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr12:124068668-124069206	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF2	chr12:124172381-124172960	GM12878	blood:	n/a	n/a
35	ATF2	chr12:124199646-124200112	GM12878	blood:	n/a	n/a
36	ATF2	chr12:124165973-124166596	GM12878	blood:	n/a	n/a
37	ATF2	chr12:124118102-124118636	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF2	chr12:124208261-124208714	GM12878	blood:	n/a	n/a
39	ATF2	chr12:124117993-124118726	GM12878	blood:	n/a	n/a
40	ATF2	chr12:124208204-124208754	GM12878	blood:	n/a	n/a
41	ATF2	chr12:124086369-124086785	GM12878	blood:	n/a	n/a
42	ATF2	chr12:124165813-124166609	GM12878	blood:	n/a	n/a
43	ATF2	chr12:124172426-124172866	GM12878	blood:	n/a	n/a
44	ATF2	chr12:124118133-124118718	H1-hESC	embryonic stem cell:	n/a	n/a
45	ATF2	chr12:124086364-124086783	H1-hESC	embryonic stem cell:	n/a	n/a
46	ATF3	chr12:124118087-124118409	GM12878	blood:	n/a	chr12:124118170-124118179 chr12:124118312-124118332
47	ATF3	chr12:124086465-124086828	K562	blood:	n/a	n/a
48	ATF3	chr12:124085987-124086914	A549	lung:	n/a	n/a
49	ATF3	chr12:124118039-124118550	H1-hESC	embryonic stem cell:	n/a	chr12:124118170-124118179 chr12:124118312-124118332
50	ATF3	chr12:124190442-124190745	K562	blood:	n/a	n/a

(count:5377 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124068866-124068916	GM06990	blood:	n/a
2	chr12:124121050-124121100	HCT-116	colon:	n/a
3	chr12:124198578-124198628	SK-N-SH_RA	brain:	n/a
4	chr12:124119250-124119300	HCM	heart:	n/a
5	chr12:124196937-124196987	GM12892	blood:	n/a
6	chr12:124019284-124019334	PrEC	prostate:	n/a
7	chr12:124145110-124145160	SKMC	muscle:	n/a
8	chr12:124105880-124105930	HL-60	blood:	n/a
9	chr12:124145110-124145160	PANC-1	pancreas:	n/a
10	chr12:124068866-124068916	GM06990	blood:	n/a
11	chr12:124121050-124121100	HCT-116	colon:	n/a
12	chr12:124198578-124198628	SK-N-SH_RA	brain:	n/a
13	chr12:124119250-124119300	HCM	heart:	n/a
14	chr12:124196937-124196987	GM12892	blood:	n/a
15	chr12:124019284-124019334	PrEC	prostate:	n/a
16	chr12:124145110-124145160	SKMC	muscle:	n/a
17	chr12:124105880-124105930	HL-60	blood:	n/a
18	chr12:124145110-124145160	PANC-1	pancreas:	n/a
19	chr12:124196508-124196558	GM19239	blood:	n/a
20	chr12:124198876-124198926	AoSMC	blood vessel:	n/a
21	chr12:124118329-124118379	HepG2	liver:	n/a
22	chr12:124121050-124121100	SK-N-SH_RA	brain:	n/a
23	chr12:124086727-124086777	HPAEpiC	pulmonary alveolar:	n/a
24	chr12:124090996-124091046	HRCEpiC	kidney:	n/a
25	chr12:124086301-124086351	MCF-7	breast:	n/a
26	chr12:124105880-124105930	HUVEC	blood vessel:	n/a
27	chr12:124086218-124086268	SK-N-SH	brain:	n/a
28	chr12:124158499-124158549	ProgFib	skin:	n/a
29	chr12:124069475-124069525	AG10803	skin:	n/a
30	chr12:124086654-124086704	Hela-S3	cervix:	n/a
31	chr12:124017975-124018025	HRE	kidney:	n/a
32	chr12:124068866-124068916	ProgFib	skin:	n/a
33	chr12:124196769-124196819	SKMC	muscle:	n/a
34	chr12:124116920-124116970	BJ	skin:	n/a
35	chr12:124086667-124086717	HEK293	kidney:	embryo
36	chr12:124155451-124155501	HepG2	liver:	n/a
37	chr12:124118173-124118223	MCF10A-Er-Src	breast:	n/a
38	chr12:124118386-124118436	BJ	skin:	n/a
39	chr12:124086472-124086522	AG04450	lung:	fetal
40	chr12:124090996-124091046	HL-60	blood:	n/a
41	chr12:124118326-124118376	Hepatocyte	liver:	n/a
42	chr12:124118329-124118379	NB4	blood:	n/a
43	chr12:124196769-124196819	GM12891	blood:	n/a
44	chr12:124119250-124119300	AoSMC	blood vessel:	n/a
45	chr12:124192819-124192869	GM06990	blood:	n/a
46	chr12:124154378-124154428	SK-N-MC	brain:	n/a
47	chr12:124069758-124069808	Jurkat	blood:	n/a
48	chr12:124118173-124118223	U87	brain:	n/a
49	chr12:124145110-124145160	SK-N-SH	brain:	n/a
50	chr12:124197229-124197279	HMEC	breast:	n/a

(count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr12:124061690..124064565-chr12:124067348..124070635,4	MCF-7	breast:
2	chr12:124127308..124129753-chr12:124158031..124160799,2	K562	blood:
3	chr12:124029823..124032582-chr12:124066908..124069357,3	MCF-7	breast:
4	chr12:123794013..123795517-chr12:124095818..124097432,2	K562	blood:
5	chr12:123941486..123944276-chr12:124085171..124087519,2	K562	blood:
6	chr12:124081195..124083992-chr12:124117533..124119708,3	MCF-7	breast:
7	chr12:124018351..124020362-chr12:124063140..124065356,2	MCF-7	breast:
8	chr12:124195139..124196741-chr12:124216677..124218308,2	MCF-7	breast:
9	chr12:124004156..124006124-chr12:124006338..124008764,2	MCF-7	breast:
10	chr12:124047707..124050611-chr12:124054919..124057365,3	MCF-7	breast:
11	chr1:150334954..150337894-chr12:124054865..124057568,2	MCF-7	breast:
12	chr12:124157620..124159905-chr12:124196914..124199226,2	K562	blood:
13	chr12:124056030..124058750-chr12:124059393..124062222,4	K562	blood:
14	chr12:124119318..124121767-chr12:124194183..124197056,2	MCF-7	breast:
15	chr12:124143980..124146532-chr12:124155769..124157495,2	MCF-7	breast:
16	chr12:124154247..124158137-chr12:124158575..124163340,6	K562	blood:
17	chr12:124076446..124078757-chr12:124080091..124082095,2	MCF-7	breast:
18	chr12:123867412..123869840-chr12:124105069..124107721,2	K562	blood:
19	chr12:124017444..124019100-chr12:124084646..124086674,2	MCF-7	breast:
20	chr12:124014995..124016623-chr12:124054786..124056310,2	MCF-7	breast:
21	chr12:124177268..124179844-chr12:124184486..124185994,2	K562	blood:
22	chr12:124018963..124020649-chr12:124025084..124027162,2	MCF-7	breast:
23	chr12:124197009..124198582-chr12:124204764..124206340,3	MCF-7	breast:
24	chr12:124137919..124140915-chr12:124140949..124142983,2	MCF-7	breast:
25	chr12:124117712..124121219-chr12:124140785..124143591,3	K562	blood:
26	chr12:124189784..124191716-chr12:124194882..124197193,2	K562	blood:
27	chr12:124063601..124065298-chr12:124067381..124068906,2	MCF-7	breast:
28	chr12:124117633..124119272-chr12:124133499..124136176,2	K562	blood:
29	chr12:124117774..124119426-chr12:124160532..124162075,2	K562	blood:
30	chr12:124087290..124089167-chr12:124099421..124102129,2	MCF-7	breast:
31	chr12:124117495..124119400-chr12:124126684..124128895,2	MCF-7	breast:
32	chr12:124057277..124059073-chr12:124064975..124067218,3	MCF-7	breast:
33	chr12:124209785..124212605-chr12:124214306..124217027,2	MCF-7	breast:
34	chr12:123847713..123850022-chr12:124067528..124071055,3	MCF-7	breast:
35	chr12:123996495..123998550-chr12:124017784..124020121,2	K562	blood:
36	chr12:123749254..123749803-chr12:124066367..124067369,3	MCF-7	breast:
37	chr12:123848073..123850361-chr12:124091131..124093611,2	MCF-7	breast:
38	chr12:124143980..124146532-chr12:124155769..124157495,2	MCF-7	breast:
39	chr12:124091943..124093772-chr12:124096958..124098825,2	K562	blood:
40	chr12:124137852..124140530-chr12:124458317..124460698,2	K562	blood:
41	chr12:123920837..123922890-chr12:124067881..124069805,2	K562	blood:
42	chr12:124090616..124092389-chr12:124114546..124116542,2	MCF-7	breast:
43	chr12:124095180..124096998-chr12:124140972..124143607,2	MCF-7	breast:
44	chr12:124090038..124092401-chr12:124112202..124113711,2	K562	blood:
45	chr12:124192727..124194757-chr12:124200394..124202441,2	K562	blood:
46	chr12:124002890..124005569-chr12:124009063..124010830,3	MCF-7	breast:
47	chr12:124105722..124107597-chr12:124119086..124122015,4	K562	blood:
48	chr12:124201954..124203947-chr12:124204566..124207259,2	MCF-7	breast:
49	chr12:123752131..123754716-chr12:124081309..124084264,2	MCF-7	breast:
50	chr12:124090198..124092919-chr12:124093242..124095991,2	MCF-7	breast:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2B1-4	chr12:124198586-124199029	NONHSAT031603
2	lnc-EIF2B1-3	chr12:124192789-124192933	ENSG00000255839
3	lnc-DDX55-1	chr12:124080952-124081554	expReg_chr12_11962_+
4	lnc-EIF2B1-2	chr12:124062808-124062838	XLOC_010228
5	lnc-EIF2B1-1	chr12:124066709-124068936	NONHSAT031599
6	lnc-SNRNP35-2	chr12:123994929-123996488	NONHSAT031595
7	lnc-EIF2B1-1	chr12:124068759-124068874	NR_110049
8	lnc-EIF2B1-5	chr12:124205793-124206186	NONHSAT031604
9	lnc-EIF2B1-1	chr12:124068148-124068245	XLOC_010229
10	lnc-EIF2B1-3	chr12:124192149-124192324	ENSG00000255839
11	lnc-SNRNP35-2	chr12:123997031-123997972	NONHSAT031595
12	lnc-EIF2B1-4	chr12:124200047-124200113	NONHSAT031603
13	lnc-EIF2B1-1	chr12:124068148-124068245	NR_110049
14	lnc-EIF2B1-1	chr12:124068759-124068874	XLOC_010229
15	lnc-EIF2B1-2	chr12:124060445-124060779	XLOC_010228
16	lnc-EIF2B1-1	chr12:124065613-124067714	XLOC_010229
17	lnc-EIF2B1-1	chr12:124065632-124067714	NR_110049

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3908	chr12:124020960-124020981	MIMAT0018182

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	TMED2	hsa-miR-30a-5p	chr12:124081299-124081320
2	EIF2B1	hsa-miR-30b-5p	chr12:124105656-124105681
3	TMED2	hsa-miR-7-5p	chr12:124081277-124081289
4	EIF2B1	hsa-miR-30a-5p	chr12:124105656-124105677
5	EIF2B1	hsa-miR-26b-5p	chr12:124105615-124105637

Variant related genes	Relation type
EIF2B1	TF binding region
TMED2	TF binding region
ENSG00000206897	TF binding region
GTF2H3	TF binding region
ENSG00000255839	TF binding region
ATP6V0A2	TF binding region
MIR3908	TF binding region
RPL27P12	TF binding region
RILPL1	TF binding region
ENSG00000247373	TF binding region
DDX55	TF binding region
TCTN2	TF binding region
EIF2B1	CpG island
TMED2	CpG island
ENSG00000206897	CpG island
GTF2H3	CpG island
ENSG00000255839	CpG island
ATP6V0A2	CpG island
MIR3908	CpG island
RPL27P12	CpG island
RILPL1	CpG island
ENSG00000247373	CpG island
DDX55	CpG island
TCTN2	CpG island
ENSG00000183955	chromatin interactions
ENSG00000255839	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000184575	chromatin interactions
ENSG00000272854	chromatin interactions
ENSG00000178882	chromatin interactions
ENSG00000185344	chromatin interactions
ENSG00000099804	chromatin interactions
ENSG00000136450	chromatin interactions
ENSG00000075790	chromatin interactions
ENSG00000247373	chromatin interactions
ENSG00000163125	chromatin interactions
ENSG00000270095	chromatin interactions
ENSG00000039650	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000188026	chromatin interactions
ENSG00000150977	chromatin interactions
ENSG00000108826	chromatin interactions
ENSG00000239215	chromatin interactions
ENSG00000119242	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000270113	chromatin interactions
ENSG00000108813	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000267100	chromatin interactions
ENSG00000179912	chromatin interactions
ENSG00000179195	chromatin interactions
ENSG00000206897	chromatin interactions
ENSG00000154920	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000184209	chromatin interactions
ENSG00000139697	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000266655	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000141543	chromatin interactions
ENSG00000168778	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000108264	chromatin interactions
CD2AP	miRNA target sites
CD44	miRNA target sites

Extended variants
information (count: 8638 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:8638 , 50 per page) page: 1 2 3 4 5 6 7 ... 173

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542920544	chr12:123991676-123991677	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs367662049	chr12:123991691-123991692	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552585500	chr12:123991767-123991768	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs183072088	chr12:123991802-123991803	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs538336284	chr12:123991822-123991823	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546995325	chr12:123991862-123991863	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs556644758	chr12:123991894-123991895	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs187874869	chr12:123991929-123991930	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs146368987	chr12:123991942-123991943	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs191188545	chr12:123991970-123991971	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528631025	chr12:123991992-123991993	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs73412279	chr12:123992007-123992008	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539886991	chr12:123992013-123992014	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182204263	chr12:123992048-123992049	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576387174	chr12:123992054-123992055	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73216951	chr12:123992064-123992065	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112968567	chr12:123992089-123992090	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562416152	chr12:123992096-123992097	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs145832022	chr12:123992111-123992112	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546505104	chr12:123992112-123992113	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34340975	chr12:123992125-123992126	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530334069	chr12:123992163-123992164	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548479978	chr12:123992169-123992170	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377202103	chr12:123992172-123992173	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560871378	chr12:123992186-123992187	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187967326	chr12:123992189-123992190	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139742967	chr12:123992210-123992211	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552647835	chr12:123992211-123992212	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143038710	chr12:123992226-123992227	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs531707255	chr12:123992227-123992228	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550311458	chr12:123992256-123992257	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568444982	chr12:123992278-123992279	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9777736	chr12:123992279-123992280	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192405047	chr12:123992309-123992310	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550282422	chr12:123992349-123992350	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554463580	chr12:123992362-123992363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561964055	chr12:123992412-123992413	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184743182	chr12:123992474-123992475	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs147020841	chr12:123992500-123992501	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143372199	chr12:123992501-123992502	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558384094	chr12:123992512-123992513	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs371422229	chr12:123992517-123992518	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs117734311	chr12:123992535-123992536	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188014493	chr12:123992545-123992546	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs193015310	chr12:123992674-123992675	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs556259601	chr12:123992703-123992704	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574429410	chr12:123992719-123992720	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs184507680	chr12:123992739-123992740	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372836282	chr12:123992801-123992802	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs375262566	chr12:123992802-123992803	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:8289 , 50 per page) page: 1 2 3 4 5 6 7 ... 166

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123944600-123995600	Weak transcription	Hela-S3	cervix
2	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
3	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
4	chr12:123956800-123993400	Weak transcription	HMEC	breast
5	chr12:123956800-123995400	Weak transcription	Fetal Brain Male	brain
6	chr12:123957400-123995400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:123957400-123995400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:123957600-123995400	Weak transcription	Pancreas	Pancrea
9	chr12:123957600-124003800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:123960000-123995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:123961600-123995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:123968800-123995400	Weak transcription	NH-A	brain
13	chr12:123969000-123993800	Weak transcription	HUVEC	blood vessel
14	chr12:123970000-124016400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:123973600-123995400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:123974600-123995400	Weak transcription	Dnd41	blood
17	chr12:123977400-123994200	Weak transcription	Fetal Heart	heart
18	chr12:123979600-123991800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr12:123979600-123994800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:123979600-124000600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:123980800-123995400	Weak transcription	Primary T cells from cord blood	blood
22	chr12:123981600-123994200	Weak transcription	Lung	lung
23	chr12:123981800-123995400	Weak transcription	NHLF	lung
24	chr12:123981800-124004000	Weak transcription	Psoas Muscle	Psoas
25	chr12:123982600-123994800	Weak transcription	K562	blood
26	chr12:123982600-124001200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:123983000-123994600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:123983000-123995200	Weak transcription	Fetal Kidney	kidney
29	chr12:123983000-123995400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:123983200-123994400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:123983400-123994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:123983400-123994800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:123983400-123995400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:123983400-123997200	Weak transcription	Liver	Liver
35	chr12:123983600-123995600	Weak transcription	NHDF-Ad	bronchial
36	chr12:123984000-123993600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:123984000-123994400	Weak transcription	Ovary	ovary
38	chr12:123984000-123995400	Weak transcription	HSMM	muscle
39	chr12:123984000-123995600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:123984200-123994200	Weak transcription	Esophagus	oesophagus
41	chr12:123984200-123994400	Weak transcription	Fetal Intestine Large	intestine
42	chr12:123984200-123995200	Weak transcription	Gastric	stomach
43	chr12:123984400-123994200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:123984400-123994200	Weak transcription	Brain Germinal Matrix	brain
45	chr12:123984400-123994800	Weak transcription	HepG2	liver
46	chr12:123987400-123994200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:123987400-123995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:123989200-123992200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:123989200-123993800	Weak transcription	Left Ventricle	heart
50	chr12:123989200-123994000	Weak transcription	Brain Substantia Nigra	brain

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