Variant report

Variant	rs11264351
Chromosome Location	chr1:155253495-155253496
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	CEBPB	chr1:155253429-155253540	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155251831..155255812-chr1:155268570..155273078,4	K562	blood:
2	chr1:155242207..155244752-chr1:155251974..155255810,3	MCF-7	breast:
3	chr1:155252433..155255120-chr1:155277408..155278967,2	K562	blood:

Variant related genes	Relation type
HCN3	TF binding region
ENSG00000176444	Chromatin interaction
ENSG00000143627	Chromatin interaction
ENSG00000160752	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1046188	0.90[ASN][1000 genomes]
rs1052176	0.90[ASN][1000 genomes]
rs1052177	0.90[ASN][1000 genomes]
rs1076556	0.90[ASN][1000 genomes]
rs1078699	0.90[ASN][1000 genomes]
rs10796943	0.85[CHB][hapmap]
rs10796945	0.85[CHB][hapmap]
rs10908463	0.85[CHB][hapmap]
rs10908465	0.85[CHB][hapmap]
rs11264346	0.89[ASN][1000 genomes]
rs11264348	0.90[ASN][1000 genomes]
rs11264349	0.90[ASN][1000 genomes]
rs11264352	0.91[ASN][1000 genomes]
rs11264353	0.91[ASN][1000 genomes]
rs11264354	0.84[ASN][1000 genomes]
rs11264355	0.83[ASN][1000 genomes]
rs11264359	0.81[CHB][hapmap]
rs11264361	0.85[CHB][hapmap]
rs11264363	0.81[CHB][hapmap]
rs11264367	0.86[CHB][hapmap]
rs11264369	0.86[CHB][hapmap]
rs11264371	0.85[CHB][hapmap]
rs11264372	0.85[CHB][hapmap]
rs11264375	0.85[CHB][hapmap]
rs1142287	0.90[ASN][1000 genomes]
rs11577338	0.90[ASN][1000 genomes]
rs12026638	0.91[CHB][hapmap]
rs12041534	0.85[CHB][hapmap]
rs12042020	0.86[ASN][1000 genomes]
rs12044063	0.89[ASN][1000 genomes]
rs12049375	0.92[ASN][1000 genomes]
rs12067675	0.84[ASN][1000 genomes]
rs12239114	0.85[CHB][hapmap]
rs12406363	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12563994	0.91[ASN][1000 genomes]
rs12724079	0.85[CHB][hapmap]
rs12724449	0.91[ASN][1000 genomes]
rs12748155	0.81[ASN][1000 genomes]
rs12749306	0.91[ASN][1000 genomes]
rs1325908	0.85[CHB][hapmap]
rs1546818	0.84[ASN][1000 genomes]
rs1807042	0.80[ASN][1000 genomes]
rs2071053	0.90[ASN][1000 genomes]
rs2072647	0.83[ASN][1000 genomes]
rs2075566	0.88[ASN][1000 genomes]
rs2236863	0.91[ASN][1000 genomes]
rs2236864	0.87[ASN][1000 genomes]
rs2242576	0.89[ASN][1000 genomes]
rs2242577	0.88[ASN][1000 genomes]
rs2297480	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2361536	0.83[ASN][1000 genomes]
rs2361543	0.90[ASN][1000 genomes]
rs34906309	0.84[ASN][1000 genomes]
rs3762272	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3814318	0.88[ASN][1000 genomes]
rs3814319	0.88[ASN][1000 genomes]
rs4620533	0.90[ASN][1000 genomes]
rs5005770	0.85[CHB][hapmap]
rs59062514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs734073	0.84[ASN][1000 genomes]
rs734074	0.83[ASN][1000 genomes]
rs741756	0.81[ASN][1000 genomes]
rs7520184	0.92[ASN][1000 genomes]
rs7543234	0.85[ASN][1000 genomes]
rs7549276	0.91[ASN][1000 genomes]
rs7554780	0.91[ASN][1000 genomes]
rs8177968	0.87[ASN][1000 genomes]
rs8847	0.90[ASN][1000 genomes]
rs932972	0.90[ASN][1000 genomes]
rs9426886	0.84[JPT][hapmap]
rs9729564	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
3	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription 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 miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
4	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
5	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
6	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
7	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
8	esv1832331	chr1:155213136-155271366	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv1826485	chr1:155214478-155264270	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	esv1824971	chr1:155215985-155260869	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	67 gene(s)	inside rSNPs	diseases
12	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
13	esv1832799	chr1:155226846-155261543	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
14	esv17013	chr1:155227059-155262674	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
15	esv1797617	chr1:155228592-155264270	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
16	esv1829849	chr1:155228592-155264270	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Strong transcription 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	34 gene(s)	inside rSNPs	diseases
17	esv1832093	chr1:155230444-155253599	Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
18	esv1826500	chr1:155230444-155261567	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
19	esv1831471	chr1:155230444-155261567	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
20	esv1826924	chr1:155230444-155271566	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
21	esv1830821	chr1:155230610-155265661	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
22	esv1831955	chr1:155230610-155265661	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
23	esv1826761	chr1:155230622-155262613	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
24	esv1826280	chr1:155230622-155262851	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
25	esv1832100	chr1:155230622-155269896	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
26	esv1830793	chr1:155230644-155261367	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
27	esv1827811	chr1:155230644-155271366	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
28	esv1827924	chr1:155230644-155271366	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
29	esv1826306	chr1:155232074-155261777	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
30	esv1832706	chr1:155232647-155261567	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
31	esv1829673	chr1:155235493-155261280	Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
32	esv1831963	chr1:155239116-155267459	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
33	esv1830532	chr1:155239128-155267471	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11264351	HCN3	cis	multi-tissue	Pritchard

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155247800-155256000	Weak transcription	Aorta	Aorta
2	chr1:155248200-155257200	Weak transcription	Thymus	Thymus
3	chr1:155248200-155260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:155248200-155261200	Weak transcription	Lung	lung
5	chr1:155248200-155262800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:155248400-155253800	Weak transcription	Spleen	Spleen
7	chr1:155248400-155254400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:155248400-155257600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:155248400-155257800	Weak transcription	Right Ventricle	heart
10	chr1:155248400-155258200	Weak transcription	Ovary	ovary
11	chr1:155248400-155259200	Weak transcription	HSMMtube	muscle
12	chr1:155248400-155259600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:155248600-155254600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:155248600-155255800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:155248600-155256600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:155248600-155257600	Weak transcription	Gastric	stomach
17	chr1:155248600-155258800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:155248800-155253800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:155248800-155259400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:155248800-155262000	Weak transcription	Fetal Lung	lung
21	chr1:155248800-155264800	Weak transcription	Pancreas	Pancrea
22	chr1:155249000-155253800	Weak transcription	Fetal Kidney	kidney
23	chr1:155249000-155262800	Weak transcription	Colonic Mucosa	Colon
24	chr1:155249200-155255200	Weak transcription	Hela-S3	cervix
25	chr1:155249200-155256200	Weak transcription	Brain Substantia Nigra	brain
26	chr1:155249200-155257000	Weak transcription	Right Atrium	heart
27	chr1:155249200-155257200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:155249200-155259400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:155249200-155260800	Weak transcription	NHEK	skin
30	chr1:155249200-155261200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:155249400-155253800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:155249400-155254000	Weak transcription	HepG2	liver
33	chr1:155249400-155254800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:155249400-155257000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:155249400-155258000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:155249400-155263200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:155249400-155264800	Weak transcription	Brain Angular Gyrus	brain
38	chr1:155249600-155254000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:155249600-155259800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:155249600-155260200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:155249600-155260800	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:155249600-155261600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:155249600-155262600	Weak transcription	Fetal Brain Male	brain
44	chr1:155251000-155260200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:155251600-155255400	Strong transcription	Fetal Intestine Large	intestine
46	chr1:155251600-155255600	Strong transcription	Fetal Intestine Small	intestine
47	chr1:155251600-155255800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:155251600-155260200	Strong transcription	Fetal Stomach	stomach
49	chr1:155251800-155259000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:155251800-155260400	Strong transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links