Variant report

Variant	rs4595147
Chromosome Location	chr8:1703569-1703570
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ETS1	chr8:1703564-1704054	K562	blood:	n/a	chr8:1703872-1703883 chr8:1703876-1703883
2	CHD2	chr8:1703261-1704241	K562	blood:	n/a	n/a
3	POLR2A	chr8:1703462-1704336	K562	blood:	n/a	n/a
4	POLR2A	chr8:1703526-1704446	MCF10A-Er-Src	breast:	n/a	n/a
5	GABPA	chr8:1703516-1704304	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr8:1703214-1704324	K562	blood:	n/a	n/a
7	FOSL2	chr8:1703512-1704301	SK-N-SH	brain:	n/a	chr8:1703976-1703986 chr8:1703977-1703985 chr8:1703976-1703986 chr8:1703975-1703987 chr8:1703973-1703984
8	NR2F2	chr8:1703368-1704252	K562	blood:	n/a	n/a
9	POLR2A	chr8:1703516-1704481	PFSK-1	brain:	n/a	n/a
10	MAX	chr8:1703492-1704398	A549	lung:	n/a	chr8:1703976-1703985
11	FOSL2	chr8:1703532-1704422	A549	lung:	n/a	chr8:1703976-1703986 chr8:1703977-1703985 chr8:1703976-1703986 chr8:1703975-1703987 chr8:1703973-1703984
12	MXI1	chr8:1703308-1704414	IMR90	lung:	n/a	n/a
13	TBL1XR1	chr8:1703539-1704272	K562	blood:	n/a	n/a
14	MAZ	chr8:1703123-1704325	K562	blood:	n/a	chr8:1703976-1703985
15	TBL1XR1	chr8:1703118-1704375	K562	blood:	n/a	n/a
16	ARID3A	chr8:1703564-1704299	K562	blood:	n/a	n/a
17	POLR2A	chr8:1703452-1704393	K562	blood:	n/a	n/a
18	REST	chr8:1703482-1704279	A549	lung:	n/a	chr8:1703719-1703733
19	SP1	chr8:1703565-1704400	A549	lung:	n/a	chr8:1703789-1703803
20	SIN3AK20	chr8:1703547-1704192	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr8:1702786-1704352	K562	blood:	n/a	n/a
22	POLR2A	chr8:1703314-1704473	U87	brain:	n/a	n/a
23	POLR2A	chr8:1703048-1704507	K562	blood:	n/a	n/a
24	POLR2A	chr8:1703541-1704199	Gliobla	brain:	n/a	n/a
25	HEY1	chr8:1703503-1704120	HepG2	liver:	n/a	n/a
26	CTCF	chr8:1703429-1704046	K562	blood:	n/a	n/a
27	NR2F2	chr8:1703527-1704373	K562	blood:	n/a	n/a
28	SIN3AK20	chr8:1703522-1704320	MCF-7	breast:	n/a	n/a
29	MAFK	chr8:1702943-1704263	K562	blood:	n/a	chr8:1703918-1703928 chr8:1703959-1703969
30	POLR2A	chr8:1703459-1704242	K562	blood:	n/a	n/a
31	POLR2A	chr8:1702874-1704476	K562	blood:	n/a	n/a
32	POLR2A	chr8:1703554-1704202	Hela-S3	cervix:	n/a	n/a
33	RCOR1	chr8:1703344-1704286	K562	blood:	n/a	n/a
34	SIN3AK20	chr8:1703562-1704121	K562	blood:	n/a	n/a
35	GABPA	chr8:1703537-1704195	SK-N-SH	brain:	n/a	n/a
36	GATA3	chr8:1703563-1704383	A549	lung:	n/a	chr8:1703975-1703984 chr8:1703980-1703987
37	PBX3	chr8:1703480-1704259	SK-N-SH	brain:	n/a	chr8:1703842-1703853
38	POLR2A	chr8:1703353-1704467	U87	brain:	n/a	n/a
39	SIN3AK20	chr8:1703557-1704185	A549	lung:	n/a	n/a
40	TCF12	chr8:1703476-1704330	A549	lung:	n/a	chr8:1703684-1703691
41	TBP	chr8:1703551-1704526	K562	blood:	n/a	n/a
42	POLR2A	chr8:1703471-1704296	K562	blood:	n/a	n/a
43	POLR2A	chr8:1702237-1704353	K562	blood:	n/a	n/a
44	MAX	chr8:1703230-1704285	A549	lung:	n/a	chr8:1703976-1703985
45	RCOR1	chr8:1703512-1704345	K562	blood:	n/a	n/a
46	CBX3	chr8:1703284-1704272	K562	blood:	n/a	n/a
47	HEY1	chr8:1703550-1704294	K562	blood:	n/a	n/a
48	POLR2A	chr8:1702221-1704218	K562	blood:	n/a	n/a
49	ZBTB7A	chr8:1703456-1703914	K562	blood:	n/a	n/a
50	JUND	chr8:1703542-1704323	SK-N-SH	brain:	n/a	chr8:1703976-1703986 chr8:1703977-1703985 chr8:1703975-1703986 chr8:1703976-1703986 chr8:1703975-1703987 chr8:1703973-1703984

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1702392..1708895-chr8:1709221..1714010,17	MCF-7	breast:

Variant related genes	Relation type
CLN8	TF binding region
ENSG00000253982	Chromatin interaction
ENSG00000182372	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10087654	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10095548	0.81[ASN][1000 genomes]
rs10095696	0.81[ASN][1000 genomes]
rs10097891	0.88[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.83[ASN][1000 genomes]
rs10100341	0.88[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.83[ASN][1000 genomes]
rs10102731	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10105317	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs10106153	0.92[ASN][1000 genomes]
rs10109098	0.81[ASN][1000 genomes]
rs10113471	0.86[ASN][1000 genomes]
rs10481354	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11136421	0.94[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs11136422	0.87[ASN][1000 genomes]
rs11136424	0.88[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[ASN][1000 genomes]
rs11778824	0.81[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs11986414	0.82[GIH][hapmap]
rs12335115	0.90[ASN][1000 genomes]
rs12674711	0.89[ASN][1000 genomes]
rs13251071	0.85[ASN][1000 genomes]
rs13256424	0.82[ASN][1000 genomes]
rs13261755	0.86[ASN][1000 genomes]
rs13282161	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13540	0.93[ASN][1000 genomes]
rs2293977	0.87[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs28376731	0.94[ASN][1000 genomes]
rs2957085	0.94[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2977197	0.86[ASN][1000 genomes]
rs35062922	0.88[ASN][1000 genomes]
rs3812477	0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4242538	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs4242539	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4370560	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4372027	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4639549	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4875806	0.88[ASN][1000 genomes]
rs4875889	0.86[ASN][1000 genomes]
rs4875957	0.88[ASN][1000 genomes]
rs4875958	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.86[ASN][1000 genomes]
rs4876133	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6558518	0.92[ASN][1000 genomes]
rs6558520	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs6558521	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6558522	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs6558523	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs6558524	0.92[ASN][1000 genomes]
rs6558525	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs6558526	0.90[ASN][1000 genomes]
rs6558527	0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs6558528	0.89[ASN][1000 genomes]
rs6558530	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6558531	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6558532	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6558533	0.81[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6558534	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6558535	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6981804	0.92[ASN][1000 genomes]
rs6982516	0.90[ASN][1000 genomes]
rs6984632	0.89[ASN][1000 genomes]
rs6986102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[ASN][1000 genomes]
rs6991773	0.83[ASN][1000 genomes]
rs6991783	0.83[ASN][1000 genomes]
rs6993706	0.81[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7000162	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7001282	0.92[ASN][1000 genomes]
rs7005592	0.94[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs7005699	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7008465	0.81[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7014327	0.88[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.83[ASN][1000 genomes]
rs7014823	0.83[ASN][1000 genomes]
rs7015858	0.88[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs71499040	0.90[ASN][1000 genomes]
rs730377	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs730379	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7341635	0.82[ASN][1000 genomes]
rs7459507	0.91[ASN][1000 genomes]
rs7460230	0.90[ASN][1000 genomes]
rs7460287	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7460365	0.91[ASN][1000 genomes]
rs7460866	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7460972	0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs7461159	0.88[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[ASN][1000 genomes]
rs7461259	0.86[ASN][1000 genomes]
rs7461600	0.87[ASN][1000 genomes]
rs7463876	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7463879	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7465178	0.87[ASN][1000 genomes]
rs7818406	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs7822816	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7827009	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7827285	0.81[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7828950	0.97[ASN][1000 genomes]
rs7838456	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7842425	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.80[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7844748	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.81[MKK][hapmap];0.91[YRI][hapmap];0.92[ASN][1000 genomes]
rs7845723	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap]
rs7846610	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.80[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9022	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1031375	chr8:1320657-1722050	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv934075	chr8:1626857-1736355	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1034490	chr8:1654716-1782467	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
12	nsv609527	chr8:1681733-1753497	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
13	nsv870096	chr8:1682851-1767342	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
14	nsv465274	chr8:1685064-1728292	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv609528	chr8:1685064-1728292	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv532892	chr8:1687433-1839578	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	esv2755149	chr8:1689290-1755281	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
18	nsv465275	chr8:1697086-1768004	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
19	nsv609529	chr8:1697086-1768004	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
20	nsv465276	chr8:1701432-1777571	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
21	nsv609530	chr8:1701432-1777571	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4595147	CLN8	cis	cerebellum	SCAN
rs4595147	CTD-2336O2.1	cis	Esophagus Muscularis	GTEx
rs4595147	CLN8	cis	parietal	SCAN
rs4595147	CTD-2336O2.1	cis	Thyroid	GTEx
rs4595147	CTD-2336O2.1	cis	Adipose Subcutaneous	GTEx
rs4595147	CTD-2336O2.1	cis	Artery Tibial	GTEx
rs4595147	CTD-2336O2.1	cis	Nerve Tibial	GTEx
rs4595147	CTD-2336O2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs4595147	CTD-2336O2.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1692600-1707400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:1700200-1708200	Weak transcription	Pancreas	Pancrea
3	chr8:1702600-1704200	Flanking Bivalent TSS/Enh	HepG2	liver
4	chr8:1702800-1703800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:1702800-1704200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:1702800-1705600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:1703000-1703600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:1703000-1703600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:1703000-1703600	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:1703000-1703800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:1703000-1704000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:1703000-1704000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:1703000-1704000	Enhancers	Placenta	Placenta
14	chr8:1703000-1704400	Enhancers	Primary hematopoietic stem cells	blood
15	chr8:1703200-1703600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:1703200-1703600	Enhancers	NHLF	lung
17	chr8:1703200-1703800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:1703200-1703800	Flanking Active TSS	K562	blood
19	chr8:1703200-1703800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr8:1703200-1704200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:1703200-1704400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:1703400-1703600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:1703400-1703600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:1703400-1703600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:1703400-1703600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr8:1703400-1703600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:1703400-1703600	Enhancers	Adipose Nuclei	Adipose
28	chr8:1703400-1703600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr8:1703400-1703600	Enhancers	Thymus	Thymus
30	chr8:1703400-1703600	Bivalent Enhancer	Dnd41	blood
31	chr8:1703400-1703800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:1703400-1703800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr8:1703400-1703800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:1703400-1703800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr8:1703400-1703800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:1703400-1703800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:1703400-1703800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:1703400-1703800	Enhancers	Fetal Thymus	thymus
39	chr8:1703400-1703800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
40	chr8:1703400-1703800	Flanking Active TSS	A549	lung
41	chr8:1703400-1703800	Flanking Active TSS	HMEC	breast
42	chr8:1703400-1703800	Flanking Active TSS	HSMMtube	muscle
43	chr8:1703400-1703800	Flanking Active TSS	NHDF-Ad	bronchial
44	chr8:1703400-1703800	Flanking Active TSS	NHEK	skin
45	chr8:1703400-1704000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:1703400-1704000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:1703400-1704000	Enhancers	Hela-S3	cervix
48	chr8:1703400-1704200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:1703400-1704200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr8:1703400-1704200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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