Variant report

Variant	rs8063508
Chromosome Location	chr16:12706809-12706810
allele	A/G
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	FOXA1	chr16:12706252-12708264	HepG2	liver:	n/a	n/a
2	RXRA	chr16:12706383-12706830	HepG2	liver:	n/a	n/a
3	RCOR1	chr16:12706536-12707757	K562	blood:	n/a	n/a
4	FOSL2	chr16:12706360-12706874	A549	lung:	n/a	n/a
5	JUND	chr16:12706248-12707091	HCT-116	colon:	n/a	chr16:12706683-12706694
6	EP300	chr16:12706229-12708381	HepG2	liver:	n/a	n/a
7	USF1	chr16:12706274-12706923	HCT-116	colon:	n/a	chr16:12706611-12706622
8	SP1	chr16:12706200-12707079	HCT-116	colon:	n/a	n/a
9	USF1	chr16:12706261-12707051	HCT-116	colon:	n/a	chr16:12706611-12706622
10	JUN	chr16:12706488-12708204	HepG2	liver:	n/a	n/a
11	NR2F2	chr16:12706288-12706953	K562	blood:	n/a	n/a
12	EP300	chr16:12706434-12708296	HepG2	liver:	n/a	n/a
13	USF1	chr16:12706450-12706840	K562	blood:	n/a	chr16:12706611-12706622
14	JUND	chr16:12706479-12706829	HepG2	liver:	n/a	chr16:12706683-12706694
15	FOSL1	chr16:12706436-12706930	K562	blood:	n/a	chr16:12706644-12706655
16	MAX	chr16:12706139-12708451	A549	lung:	n/a	n/a
17	POLR2A	chr16:12706414-12706869	HepG2	liver:	n/a	n/a
18	EP300	chr16:12706287-12708137	HepG2	liver:	n/a	n/a
19	JUND	chr16:12706362-12706896	HepG2	liver:	n/a	chr16:12706683-12706694
20	STAT3	chr16:12706619-12706822	MCF10A-Er-Src	breast:	n/a	n/a
21	SMC3	chr16:12706452-12708092	HepG2	liver:	n/a	n/a
22	HEY1	chr16:12706306-12708350	HepG2	liver:	n/a	n/a
23	MAFK	chr16:12706380-12706869	K562	blood:	n/a	n/a
24	MAFK	chr16:12706344-12706971	HepG2	liver:	n/a	n/a
25	NR3C1	chr16:12706259-12706873	A549	lung:	n/a	n/a
26	HNF4A	chr16:12706347-12706855	HepG2	liver:	n/a	n/a
27	MAFF	chr16:12706486-12706845	K562	blood:	n/a	n/a
28	ZEB1	chr16:12706298-12708202	HepG2	liver:	n/a	n/a
29	FOSL2	chr16:12706469-12706922	MCF-7	breast:	n/a	n/a
30	JUND	chr16:12706445-12706896	HepG2	liver:	n/a	chr16:12706683-12706694
31	FOS	chr16:12706465-12706870	K562	blood:	n/a	n/a
32	FOXA2	chr16:12706392-12706898	A549	lung:	n/a	n/a
33	YY1	chr16:12706517-12706828	HCT-116	colon:	n/a	n/a
34	EP300	chr16:12706301-12708399	A549	lung:	n/a	n/a
35	RFX5	chr16:12706681-12708257	HepG2	liver:	n/a	n/a
36	SP1	chr16:12706296-12708109	HepG2	liver:	n/a	n/a
37	FOS	chr16:12706464-12706861	MCF10A-Er-Src	breast:	n/a	n/a
38	USF1	chr16:12706364-12706861	A549	lung:	n/a	chr16:12706611-12706622
39	USF2	chr16:12706440-12706810	HepG2	liver:	n/a	chr16:12706611-12706622
40	TAL1	chr16:12706393-12706831	K562	blood:	n/a	n/a
41	POLR2A	chr16:12706361-12708773	HepG2	liver:	n/a	n/a
42	GATA3	chr16:12706216-12708303	A549	lung:	n/a	n/a
43	POLR2A	chr16:12706359-12706881	K562	blood:	n/a	n/a
44	MYBL2	chr16:12706243-12708494	HepG2	liver:	n/a	n/a
45	TEAD4	chr16:12706306-12706917	K562	blood:	n/a	n/a
46	RCOR1	chr16:12706416-12706839	HepG2	liver:	n/a	n/a
47	FOSL1	chr16:12706291-12708170	HCT-116	colon:	n/a	chr16:12706644-12706655 chr16:12707700-12707711 chr16:12707672-12707683
48	SIN3AK20	chr16:12706291-12707012	MCF-7	breast:	n/a	n/a
49	JUND	chr16:12706451-12706913	A549	lung:	n/a	chr16:12706683-12706694
50	CEBPZ	chr16:12706596-12708090	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
2	chr16:12705693..12707355-chr16:12894687..12897390,2	K562	blood:
3	chr16:12705693..12708514-chr16:12893374..12897390,4	K562	blood:

Variant related genes	Relation type
ENSG00000259899	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10500385	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12019047	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28446620	0.86[ASN][1000 genomes]
rs55678008	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55714446	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56004828	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6498340	1.00[CEU][hapmap]
rs68121083	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7186689	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7198815	0.82[JPT][hapmap]
rs7198969	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7199918	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72777091	0.85[EUR][1000 genomes]
rs8053336	0.82[JPT][hapmap]
rs9925735	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9936556	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv437802	chr16:12667076-12708294	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv571469	chr16:12670401-12715480	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv1804537	chr16:12671491-12708186	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv18351	chr16:12674207-12734557	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv2757629	chr16:12676745-12712199	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv2758631	chr16:12676745-12712199	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv1812058	chr16:12680270-12712059	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv9351	chr16:12681377-12708042	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1051014	chr16:12683657-12722792	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv1812319	chr16:12685000-12707419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv1813426	chr16:12685000-12707419	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv1038888	chr16:12685122-12707419	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv1052847	chr16:12685133-12707379	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	esv1807722	chr16:12688896-12706809	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	esv1808867	chr16:12688896-12706809	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	esv1810192	chr16:12688896-12706809	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
24	esv1813481	chr16:12688896-12706809	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv1036322	chr16:12690859-12707379	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv1048667	chr16:12690859-12707419	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
27	esv2760435	chr16:12690859-12707737	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
28	nsv1048793	chr16:12690859-12707737	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
29	nsv1037906	chr16:12690859-12708208	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
30	nsv1045233	chr16:12690859-12708294	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
31	nsv1041721	chr16:12690859-12708403	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
32	esv2753317	chr16:12691532-12707379	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
33	esv14036	chr16:12691586-12706911	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
34	esv1811848	chr16:12691643-12708186	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
35	esv1808513	chr16:12691653-12711233	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
36	esv1813801	chr16:12691653-12711233	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
37	nsv905351	chr16:12697211-12721188	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
38	nsv471083	chr16:12704140-12714394	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
39	nsv457422	chr16:12705930-12711025	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	nsv571478	chr16:12705930-12711025	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	esv1819970	chr16:12705930-12712304	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12703800-12708000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:12704000-12708800	Enhancers	Placenta	Placenta
3	chr16:12704200-12708400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:12704400-12707400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:12704400-12707400	Enhancers	Stomach Mucosa	stomach
6	chr16:12704600-12708200	Enhancers	NHEK	skin
7	chr16:12704800-12707200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr16:12704800-12709400	Enhancers	Fetal Intestine Large	intestine
9	chr16:12705000-12707800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr16:12705000-12709000	Enhancers	Fetal Intestine Small	intestine
11	chr16:12705600-12707200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:12706000-12708800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:12706200-12707200	Enhancers	Duodenum Mucosa	Duodenum
14	chr16:12706200-12707200	Flanking Active TSS	A549	lung
15	chr16:12706200-12708000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:12706400-12707400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:12706400-12707400	Enhancers	Primary hematopoietic stem cells	blood
18	chr16:12706400-12708200	Enhancers	NH-A	brain
19	chr16:12706400-12708400	Flanking Active TSS	HepG2	liver
20	chr16:12706400-12708400	Enhancers	HMEC	breast
21	chr16:12706400-12709000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr16:12706400-12709000	Enhancers	Fetal Thymus	thymus
23	chr16:12706600-12707000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr16:12706600-12707600	Enhancers	Dnd41	blood
25	chr16:12706600-12708200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr16:12706600-12708200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr16:12706600-12708600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr16:12706600-12708600	Enhancers	Thymus	Thymus
29	chr16:12706600-12708600	Enhancers	GM12878-XiMat	blood
30	chr16:12706600-12708800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr16:12706800-12707200	Flanking Active TSS	Liver	Liver
32	chr16:12706800-12707600	Flanking Active TSS	K562	blood
33	chr16:12706800-12708800	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links