Variant report

Variant	rs10187622
Chromosome Location	chr2:188414161-188414162
allele	C/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	FOXA1	chr2:188413869-188414327	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:188413844-188414290	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr2:188413943-188416995	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr2:188413653-188416610	HUVEC	blood vessel:	n/a	n/a
5	ARID3A	chr2:188414115-188414413	HepG2	liver:	n/a	n/a
6	MBD4	chr2:188410002-188416722	HepG2	liver:	n/a	n/a
7	STAT3	chr2:188413905-188414248	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr2:188413524-188414666	MCF10A-Er-Src	breast:	n/a	chr2:188413545-188413553 chr2:188413645-188413665 chr2:188413648-188413662 chr2:188413651-188413659
9	MYC	chr2:188414049-188414334	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr2:188414064-188414450	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr2:188413695-188414286	MCF10A-Er-Src	breast:	n/a	n/a
12	HEY1	chr2:188413909-188414292	HepG2	liver:	n/a	n/a
13	FOXA2	chr2:188413890-188414231	HepG2	liver:	n/a	n/a
14	MYBL2	chr2:188413852-188416295	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:188410665-188416978	K562	blood:	n/a	n/a
16	POLR2A	chr2:188412875-188416718	HepG2	liver:	n/a	n/a
17	FOXA2	chr2:188413765-188414269	A549	lung:	n/a	n/a
18	STAT3	chr2:188413937-188414222	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXA1	chr2:188413836-188414596	HepG2	liver:	n/a	chr2:188414417-188414429
20	NFIC	chr2:188413801-188416267	HepG2	liver:	n/a	chr2:188414032-188414060
21	STAT3	chr2:188413965-188414222	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr2:188413996-188414245	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr2:188413964-188414238	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr2:188413992-188414208	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:188413692-188414490	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:188408868..188410387-chr2:188412786..188414991,2	MCF-7	breast:
2	chr2:188366746..188369254-chr2:188412378..188414717,2	K562	blood:
3	chr2:188392650..188395033-chr2:188412614..188414418,2	K562	blood:
4	chr2:188411707..188414780-chr2:188445119..188447288,3	K562	blood:

Variant related genes	Relation type
ENSG00000224063	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10179730	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10931292	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs16829086	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs16829090	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2067770	0.99[ASN][1000 genomes]
rs62172424	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6434221	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7560548	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv584038	chr2:188370232-188450136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv875580	chr2:188370232-188521234	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	esv2757845	chr2:188380042-188503185	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	esv2759108	chr2:188380042-188503185	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv875581	chr2:188390819-188521234	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv875582	chr2:188395700-188508011	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv875583	chr2:188395700-188521234	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv875584	chr2:188414161-188500930	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188398400-188418000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:188406200-188418600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:188406800-188415600	Weak transcription	Spleen	Spleen
4	chr2:188406800-188417200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:188406800-188418000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:188406800-188418600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:188406800-188422800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:188407000-188414600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:188407000-188414800	Weak transcription	Small Intestine	intestine
10	chr2:188407200-188414600	Weak transcription	Aorta	Aorta
11	chr2:188408600-188414600	Enhancers	NHDF-Ad	bronchial
12	chr2:188409200-188414600	Enhancers	Osteobl	bone
13	chr2:188409600-188414200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:188409800-188414600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:188409800-188415600	Weak transcription	Placenta	Placenta
16	chr2:188409800-188415600	Weak transcription	Lung	lung
17	chr2:188409800-188415600	Weak transcription	Ovary	ovary
18	chr2:188409800-188416000	Weak transcription	Left Ventricle	heart
19	chr2:188410200-188414200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:188410200-188414600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:188410400-188414600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:188410800-188414600	Weak transcription	Fetal Intestine Large	intestine
23	chr2:188410800-188417800	Weak transcription	Fetal Kidney	kidney
24	chr2:188410800-188420600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:188411000-188416200	Enhancers	Fetal Lung	lung
26	chr2:188411000-188418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:188411200-188419000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:188411800-188415400	Genic enhancers	K562	blood
29	chr2:188412000-188415600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:188412200-188414800	Weak transcription	Adipose Nuclei	Adipose
31	chr2:188412400-188414800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:188412400-188414800	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:188412400-188415600	Weak transcription	Pancreas	Pancrea
34	chr2:188412600-188414800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:188412600-188415600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:188412600-188415600	Weak transcription	Dnd41	blood
37	chr2:188412600-188416000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:188412600-188417600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:188412600-188418200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:188412600-188418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:188412800-188414400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:188412800-188414600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:188412800-188415600	Weak transcription	NH-A	brain
44	chr2:188413000-188414400	Flanking Active TSS	A549	lung
45	chr2:188413000-188414800	Genic enhancers	HSMM	muscle
46	chr2:188413200-188414600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:188413200-188414800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr2:188413200-188415600	Active TSS	Psoas Muscle	Psoas
49	chr2:188413200-188417200	Weak transcription	Fetal Stomach	stomach
50	chr2:188413200-188417400	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links