Variant report

Variant	nsv830281
Chromosome Location	chr1:76095292-76251053
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1987)
CpG islands
(count:1284)
Chromatin interactive
region (count:159)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1987 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:76193195-76193385	K562	blood:	n/a	n/a
2	ARID3A	chr1:76190282-76190610	K562	blood:	n/a	n/a
3	ARID3A	chr1:76138415-76138772	K562	blood:	n/a	n/a
4	ARID3A	chr1:76142701-76143423	K562	blood:	n/a	n/a
5	ARID3A	chr1:76191179-76192020	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:76201849-76201984	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:76250294-76250844	K562	blood:	n/a	n/a
8	ARID3A	chr1:76105897-76106242	K562	blood:	n/a	n/a
9	ARID3A	chr1:76172923-76173341	K562	blood:	n/a	n/a
10	ARID3A	chr1:76143217-76143395	HepG2	liver:	n/a	n/a
11	ARID3A	chr1:76189663-76190663	HepG2	liver:	n/a	n/a
12	ARID3A	chr1:76127609-76127665	K562	blood:	n/a	n/a
13	ARID3A	chr1:76156263-76156463	K562	blood:	n/a	n/a
14	ATF1	chr1:76105885-76106222	K562	blood:	n/a	n/a
15	ATF1	chr1:76250219-76250883	K562	blood:	n/a	n/a
16	ATF1	chr1:76109354-76109542	K562	blood:	n/a	n/a
17	ATF1	chr1:76172970-76173277	K562	blood:	n/a	n/a
18	ATF1	chr1:76231550-76231678	K562	blood:	n/a	n/a
19	ATF1	chr1:76156227-76156551	K562	blood:	n/a	n/a
20	ATF1	chr1:76213297-76213310	K562	blood:	n/a	n/a
21	ATF1	chr1:76139698-76139874	K562	blood:	n/a	n/a
22	ATF2	chr1:76192526-76193133	GM12878	blood:	n/a	n/a
23	ATF2	chr1:76095599-76095993	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr1:76190039-76190752	GM12878	blood:	n/a	n/a
25	ATF2	chr1:76192624-76193289	GM12878	blood:	n/a	n/a
26	ATF2	chr1:76190083-76190371	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr1:76210941-76211519	GM12878	blood:	n/a	n/a
28	ATF2	chr1:76250094-76250790	GM12878	blood:	n/a	n/a
29	ATF2	chr1:76250293-76250672	GM12878	blood:	n/a	n/a
30	ATF2	chr1:76190068-76190614	GM12878	blood:	n/a	n/a
31	ATF3	chr1:76138498-76138845	K562	blood:	n/a	n/a
32	BACH1	chr1:76138455-76138930	K562	blood:	n/a	n/a
33	BACH1	chr1:76137820-76137966	K562	blood:	n/a	n/a
34	BACH1	chr1:76137871-76139155	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr1:76190205-76190643	H1-hESC	embryonic stem cell:	n/a	n/a
36	BATF	chr1:76250287-76250598	GM12878	blood:	n/a	n/a
37	BCL11A	chr1:76250400-76250620	GM12878	blood:	n/a	n/a
38	BCL11A	chr1:76192687-76192825	GM12878	blood:	n/a	chr1:76192791-76192800
39	BCL3	chr1:76189929-76190427	A549	lung:	n/a	chr1:76190084-76190097
40	BCLAF1	chr1:76190094-76190732	GM12878	blood:	n/a	chr1:76190687-76190696
41	BCLAF1	chr1:76190090-76190760	K562	blood:	n/a	chr1:76190687-76190696
42	BCLAF1	chr1:76250204-76250877	GM12878	blood:	n/a	n/a
43	BCLAF1	chr1:76172926-76173291	K562	blood:	n/a	n/a
44	BCLAF1	chr1:76250275-76250723	GM12878	blood:	n/a	n/a
45	BCLAF1	chr1:76190088-76190821	GM12878	blood:	n/a	chr1:76190687-76190696
46	BCLAF1	chr1:76190073-76190790	K562	blood:	n/a	chr1:76190687-76190696 chr1:76190084-76190097
47	BCLAF1	chr1:76210943-76211402	GM12878	blood:	n/a	n/a
48	BHLHE40	chr1:76236488-76236493	K562	blood:	n/a	n/a
49	BHLHE40	chr1:76192365-76193431	GM12878	blood:	n/a	n/a
50	BHLHE40	chr1:76107180-76107438	K562	blood:	n/a	n/a

(count:1284 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:76095838-76095888	Hela-S3	cervix:	n/a
2	chr1:76190140-76190190	BJ	skin:	n/a
3	chr1:76190839-76190889	AG09309	skin:	n/a
4	chr1:76095838-76095888	Hela-S3	cervix:	n/a
5	chr1:76190140-76190190	BJ	skin:	n/a
6	chr1:76190839-76190889	AG09309	skin:	n/a
7	chr1:76189192-76189242	HEK293	kidney:	embryo
8	chr1:76190428-76190478	SK-N-SH	brain:	n/a
9	chr1:76190140-76190190	H1-hESC	embryonic stem cell:	embryo
10	chr1:76188832-76188882	NH-A	brain:	n/a
11	chr1:76189770-76189820	ovcar-3	ovarian:	n/a
12	chr1:76095838-76095888	Caco-2	colon:	n/a
13	chr1:76138023-76138073	MCF10A-Er-Src	breast:	n/a
14	chr1:76189801-76189851	AG09309	skin:	n/a
15	chr1:76189945-76189995	GM06990	blood:	n/a
16	chr1:76189770-76189820	H1-hESC	embryonic stem cell:	embryo
17	chr1:76190040-76190090	HMEC	breast:	n/a
18	chr1:76190008-76190058	SK-N-SH_RA	brain:	n/a
19	chr1:76138023-76138073	PFSK-1	brain:	n/a
20	chr1:76188832-76188882	HRPEpiC	eye:	n/a
21	chr1:76190008-76190058	LNCaP	prostate:	n/a
22	chr1:76190435-76190485	NB4	blood:	n/a
23	chr1:76237326-76237376	ovcar-3	ovarian:	n/a
24	chr1:76190040-76190090	PrEC	prostate:	n/a
25	chr1:76190428-76190478	HMEC	breast:	n/a
26	chr1:76189770-76189820	SK-N-SH_RA	brain:	n/a
27	chr1:76190435-76190485	HEEpiC	esophagus:	n/a
28	chr1:76190839-76190889	HCF	heart:	n/a
29	chr1:76190839-76190889	PANC-1	pancreas:	n/a
30	chr1:76190008-76190058	BE2_C	brain:	n/a
31	chr1:76237326-76237376	ProgFib	skin:	n/a
32	chr1:76095838-76095888	NT2-D1	testis:	n/a
33	chr1:76189770-76189820	NB4	blood:	n/a
34	chr1:76190172-76190222	A549	lung:	n/a
35	chr1:76186078-76186128	SK-N-SH	brain:	n/a
36	chr1:76188888-76188938	BJ	skin:	n/a
37	chr1:76188832-76188882	HL-60	blood:	n/a
38	chr1:76186078-76186128	BE2_C	brain:	n/a
39	chr1:76188832-76188882	MCF10A-Er-Src	breast:	n/a
40	chr1:76190172-76190222	Caco-2	colon:	n/a
41	chr1:76190666-76190716	GM12892	blood:	n/a
42	chr1:76190839-76190889	AG10803	skin:	n/a
43	chr1:76190008-76190058	AG09319	gingival:	n/a
44	chr1:76190172-76190222	SKMC	muscle:	n/a
45	chr1:76189770-76189820	CMK	blood:	n/a
46	chr1:76189954-76190004	GM19239	blood:	n/a
47	chr1:76188917-76188967	RPTEC	kidney:	n/a
48	chr1:76189770-76189820	SKMC	muscle:	n/a
49	chr1:76095838-76095888	HRE	kidney:	n/a
50	chr1:76189801-76189851	MCF10A-Er-Src	breast:	n/a

(count:159 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr1:76192256..76194565-chr1:76250720..76252773,2	MCF-7	breast:
2	chr1:76097324..76099781-chr1:76183811..76186655,2	K562	blood:
3	chr1:76189028..76194220-chr1:76209012..76215464,6	K562	blood:
4	chr1:76141089..76142781-chr1:76250261..76252071,2	K562	blood:
5	chr1:76175057..76177134-chr1:76227565..76229242,2	K562	blood:
6	chr1:76188926..76192007-chr1:76225372..76229604,4	K562	blood:
7	chr1:76189902..76190712-chr1:144533703..144534665,2	Hela-S3	cervix:
8	chr1:76187424..76195796-chr1:76248839..76258922,52	K562	blood:
9	chr1:76213297..76216875-chr1:76250212..76251937,3	K562	blood:
10	chr1:76203557..76205358-chr1:76211524..76214025,2	K562	blood:
11	chr1:76190185..76192141-chr1:76251658..76253401,2	MCF-7	breast:
12	chr1:76138718..76140997-chr1:76142345..76144918,2	K562	blood:
13	chr1:76189532..76190105-chr1:76251441..76252104,2	MCF-7	breast:
14	chr1:76087110..76089218-chr1:76095459..76097902,2	MCF-7	breast:
15	chr1:76222580..76224915-chr1:76228068..76230372,2	K562	blood:
16	chr1:76189426..76191146-chr1:76192491..76194847,2	MCF-7	breast:
17	chr1:76158932..76160525-chr1:76160690..76162510,2	K562	blood:
18	chr1:76138718..76140997-chr1:76142345..76144918,2	K562	blood:
19	chr1:76225609..76234140-chr1:76249320..76256385,15	K562	blood:
20	chr1:76158932..76160525-chr1:76160690..76162510,2	K562	blood:
21	chr1:76098237..76098781-chr1:76108716..76109281,2	K562	blood:
22	chr1:76103722..76106233-chr1:76108885..76111145,2	K562	blood:
23	chr1:76171640..76173855-chr1:76188377..76192246,4	K562	blood:
24	chr1:76230023..76233011-chr1:76235018..76236757,2	K562	blood:
25	chr1:76135232..76136937-chr1:76193196..76195615,2	K562	blood:
26	chr1:76152720..76155791-chr1:76253617..76257786,3	K562	blood:
27	chr1:76190900..76193069-chr1:76204976..76207416,2	K562	blood:
28	chr1:76140961..76144068-chr1:76250261..76252961,3	K562	blood:
29	chr1:76204780..76207479-chr1:76214544..76217459,2	K562	blood:
30	chr1:76198750..76201093-chr1:76210401..76212796,3	K562	blood:
31	chr1:76197560..76200556-chr1:76208948..76211290,2	K562	blood:
32	chr1:76088182..76090967-chr1:76093940..76095559,2	K562	blood:
33	chr1:75731173..75731698-chr1:76097693..76098339,2	MCF-7	breast:
34	chr1:76208509..76211228-chr1:76250454..76252141,2	K562	blood:
35	chr1:76136446..76138259-chr1:76189741..76191373,2	K562	blood:
36	chr1:76102793..76106233-chr1:76108594..76111145,3	K562	blood:
37	chr1:76210337..76212133-chr1:76214000..76216187,2	K562	blood:
38	chr1:76197210..76199474-chr1:76201595..76205002,3	K562	blood:
39	chr1:76153507..76155716-chr1:76158535..76161147,2	K562	blood:
40	chr1:76235199..76237573-chr1:76250494..76252848,2	K562	blood:
41	chr1:76094259..76097858-chr1:76188776..76191867,4	K562	blood:
42	chr1:76234782..76236284-chr1:76243274..76245425,2	K562	blood:
43	chr1:76188764..76194417-chr1:76259356..76264333,14	K562	blood:
44	chr1:76208992..76212319-chr1:76261590..76264096,3	K562	blood:
45	chr1:76168335..76170790-chr1:76173153..76175492,2	K562	blood:
46	chr1:76190052..76193339-chr1:76196508..76198872,3	K562	blood:
47	chr1:76153507..76155716-chr1:76158535..76161147,2	K562	blood:
48	chr1:76189501..76190437-chr1:76251743..76252335,2	NB4	blood:
49	chr1:76188740..76191486-chr1:76199573..76201902,4	K562	blood:
50	chr1:76236456..76238614-chr1:76251949..76253787,2	K562	blood:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC44A5-4	chr1:76103852-76104725	NONHSAT003984
2	lnc-SLC44A5-4	chr1:76186030-76186090	XLOC_000872
3	lnc-SLC44A5-4	chr1:76186034-76186090	NONHSAT003984
4	lnc-SLC44A5-4	chr1:76175688-76176245	ENSG00000178193.5
5	lnc-SLC44A5-4	chr1:76174710-76174855	NONHSAT003984
6	lnc-SLC44A5-4	chr1:76107988-76108177	NONHSAT003985
7	lnc-SLC44A5-4	chr1:76105925-76108177	NONHSAT003984
8	lnc-SLC44A5-4	chr1:76189353-76189473	ENSG00000178193.5
9	lnc-SLC44A5-4	chr1:76189627-76189696	ENSG00000178193.5
10	lnc-SLC44A5-4	chr1:76189627-76189696	XLOC_000872
11	lnc-SLC44A5-4	chr1:76189353-76189473	XLOC_000872
12	lnc-SLC44A5-4	chr1:76143415-76143463	NONHSAT003985
13	lnc-SLC44A5-4	chr1:76188705-76188721	NONHSAT003984
14	lnc-RABGGTB-1	chr1:76249597-76249671	NONHSAT003994
15	lnc-SLC44A5-4	chr1:76175700-76176308	XLOC_000872
16	lnc-SLC44A5-4	chr1:76186034-76186090	ENSG00000178193.5

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ACADM	hsa-miR-26b-5p	chr1:76228656-76228676
2	ACADM	hsa-miR-26b-5p	chr1:76229233-76229255

Variant related genes	Relation type
RABGGTB	TF binding region
SNORD45A	TF binding region
ENSG00000181227	TF binding region
SNORD45B	TF binding region
ACADM	TF binding region
SNORD45C	TF binding region
ENSG00000178193	TF binding region
ENSG00000230863	TF binding region
RABGGTB	CpG island
SNORD45A	CpG island
ENSG00000181227	CpG island
SNORD45B	CpG island
ACADM	CpG island
SNORD45C	CpG island
ENSG00000178193	CpG island
ENSG00000230863	CpG island
ENSG00000156873	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000170881	chromatin interactions
ENSG00000158747	chromatin interactions
ENSG00000273338	chromatin interactions
ENSG00000162623	chromatin interactions
ENSG00000136877	chromatin interactions
ENSG00000131051	chromatin interactions
ENSG00000162616	chromatin interactions
ENSG00000206620	chromatin interactions
ENSG00000181227	chromatin interactions
ENSG00000207241	chromatin interactions
ENSG00000201487	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000178193	chromatin interactions
ENSG00000057468	chromatin interactions
ENSG00000137955	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000117054	chromatin interactions

Extended variants
information (count: 4511 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:4511 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545021223	chr1:76095297-76095298	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs211739	chr1:76095298-76095299	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs559469438	chr1:76095360-76095361	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs74816010	chr1:76095388-76095389	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs814856	chr1:76095434-76095435	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs542064343	chr1:76095448-76095449	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567389698	chr1:76095491-76095492	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs191489162	chr1:76095555-76095556	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs372545737	chr1:76095556-76095557	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs374034842	chr1:76095596-76095597	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs571920117	chr1:76095618-76095619	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs539178018	chr1:76095734-76095735	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs12140301	chr1:76095736-76095737	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs185432707	chr1:76095748-76095749	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs145065124	chr1:76095765-76095766	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs72981027	chr1:76095838-76095839	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572887437	chr1:76095853-76095854	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs549220332	chr1:76095856-76095857	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs112910346	chr1:76095873-76095874	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs534858400	chr1:76095892-76095893	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs12091293	chr1:76095933-76095934	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs142022724	chr1:76095959-76095960	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150831940	chr1:76095970-76095971	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs138145310	chr1:76096095-76096096	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs149650711	chr1:76096101-76096102	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs368621129	chr1:76096102-76096103	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs78256327	chr1:76096111-76096112	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528093321	chr1:76096112-76096113	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs533227479	chr1:76096124-76096125	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs199928192	chr1:76096147-76096148	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs138630245	chr1:76096279-76096280	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs376677716	chr1:76096280-76096281	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201944657	chr1:76096299-76096300	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs375674786	chr1:76096300-76096301	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs369766959	chr1:76096303-76096304	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs189889723	chr1:76096321-76096322	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs144368306	chr1:76096352-76096353	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs211738	chr1:76096357-76096358	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535711029	chr1:76096408-76096409	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs569332494	chr1:76096410-76096411	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs536987026	chr1:76096455-76096456	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548464040	chr1:76096459-76096460	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs566573200	chr1:76096467-76096468	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs533886681	chr1:76096505-76096506	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs541619327	chr1:76096590-76096591	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs12042185	chr1:76096617-76096618	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368048720	chr1:76096643-76096644	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs397863761	chr1:76096645-76096646	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs182045499	chr1:76096671-76096672	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs144797050	chr1:76096685-76096686	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2163 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76092400-76095800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:76094600-76095400	Enhancers	HepG2	liver
3	chr1:76094600-76096200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:76094600-76096800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:76094800-76096200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:76094800-76096200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:76094800-76096800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:76095000-76096200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:76095000-76096600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:76095200-76095400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:76095200-76096200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:76095200-76096200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:76095200-76096200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:76095200-76096200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:76095400-76095600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:76095400-76096200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:76095400-76096600	Weak transcription	HepG2	liver
18	chr1:76095400-76096800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:76095600-76096200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:76095800-76096200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:76095800-76096200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:76095800-76096200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:76095800-76096200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:76096200-76098600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:76096400-76097600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:76096600-76097200	Enhancers	HepG2	liver
27	chr1:76098600-76098800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:76104400-76104800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:76104800-76105200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:76105200-76106200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:76105200-76106200	Enhancers	Pancreas	Pancrea
32	chr1:76105200-76106400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:76105200-76106400	Enhancers	K562	blood
34	chr1:76105200-76106600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:76105800-76106200	Enhancers	Esophagus	oesophagus
36	chr1:76108000-76108200	Enhancers	Esophagus	oesophagus
37	chr1:76109200-76109800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:76121000-76121400	ZNF genes & repeats	Aorta	Aorta
39	chr1:76128400-76129400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:76128800-76129200	Enhancers	HepG2	liver
41	chr1:76129200-76136400	Weak transcription	HepG2	liver
42	chr1:76131200-76137600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:76133800-76136600	Weak transcription	K562	blood
44	chr1:76136400-76138000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:76136400-76138000	Enhancers	HepG2	liver
46	chr1:76136400-76139000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:76136400-76139000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr1:76136600-76136800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:76136600-76137600	Enhancers	K562	blood
50	chr1:76136600-76139000	Enhancers	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links