Variant report

Variant	rs11264350
Chromosome Location	chr1:155248840-155248841
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	POLR2A	chr1:155246852-155248928	H1-neurons	neurons:	n/a	n/a
2	REST	chr1:155246952-155249072	PFSK-1	brain:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
3	REST	chr1:155246807-155248853	U87	brain:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
4	TAF1	chr1:155247847-155249522	H1-neurons	neurons:	n/a	n/a
5	TAF1	chr1:155248060-155248888	H1-neurons	neurons:	n/a	n/a
6	FOS	chr1:155248603-155248910	MCF10A-Er-Src	breast:	n/a	chr1:155248740-155248751 chr1:155248742-155248753 chr1:155248744-155248752
7	RAD21	chr1:155246704-155248950	SK-N-SH	brain:	n/a	chr1:155247865-155247875 chr1:155247014-155247024 chr1:155247012-155247025
8	CTCF	chr1:155248800-155248950	HEEpiC	esophagus:	n/a	n/a
9	REST	chr1:155246764-155249731	H1-neurons	neurons:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
10	POLR2A	chr1:155246918-155248977	H1-neurons	neurons:	n/a	n/a
11	FOS	chr1:155248615-155248865	MCF10A-Er-Src	breast:	n/a	chr1:155248740-155248751 chr1:155248742-155248753 chr1:155248744-155248752
12	REST	chr1:155246967-155248862	PFSK-1	brain:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307

No.	Distal block	Cell Line	Cell type
1	chr1:155245319..155249606-chr1:155290397..155296026,10	K562	blood:
2	chr1:155246042..155249168-chr1:155274467..155279979,9	MCF-7	breast:
3	chr1:155245586..155250751-chr1:155275814..155280484,11	K562	blood:
4	chr1:155246581..155249773-chr1:155532192..155535114,5	MCF-7	breast:
5	chr1:155247579..155249594-chr1:155291407..155294403,2	K562	blood:
6	chr1:155245096..155252304-chr1:155290044..155297941,20	MCF-7	breast:
7	chr1:155245749..155249889-chr1:155291182..155296435,17	MCF-7	breast:
8	chr1:155245052..155250020-chr1:155276306..155280611,10	MCF-7	breast:
9	chr1:155163753..155165613-chr1:155247738..155249904,2	K562	blood:

Variant related genes	Relation type
CLK2	TF binding region
HCN3	TF binding region
ENSG00000271748	Chromatin interaction
ENSG00000116539	Chromatin interaction
ENSG00000160752	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000160753	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11465203	1.00[MEX][hapmap]
rs11465207	1.00[MEX][hapmap]
rs12058261	1.00[AFR][1000 genomes]
rs1611772	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:34 , 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	esv1831149	chr1:155233501-155252122	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
32	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
33	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
34	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

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155247000-155249000	Active TSS	Brain Anterior Caudate	brain
2	chr1:155247000-155249000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:155247200-155249400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:155247800-155249200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:155247800-155256000	Weak transcription	Aorta	Aorta
6	chr1:155248000-155249000	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:155248000-155249400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:155248000-155249800	Weak transcription	Stomach Mucosa	stomach
9	chr1:155248200-155249000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:155248200-155249000	Enhancers	Fetal Muscle Leg	muscle
11	chr1:155248200-155249200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:155248200-155249200	Enhancers	Right Atrium	heart
13	chr1:155248200-155249400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:155248200-155249400	Enhancers	Fetal Muscle Trunk	muscle
15	chr1:155248200-155249600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:155248200-155252200	Weak transcription	Esophagus	oesophagus
17	chr1:155248200-155257200	Weak transcription	Thymus	Thymus
18	chr1:155248200-155260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:155248200-155261200	Weak transcription	Lung	lung
20	chr1:155248200-155262800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:155248400-155249000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:155248400-155249200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:155248400-155249200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:155248400-155249400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:155248400-155249400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:155248400-155249400	Enhancers	Fetal Stomach	stomach
27	chr1:155248400-155249400	Enhancers	HMEC	breast
28	chr1:155248400-155249400	Enhancers	HSMM	muscle
29	chr1:155248400-155249600	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr1:155248400-155249600	Enhancers	Brain Hippocampus Middle	brain
31	chr1:155248400-155249600	Flanking Active TSS	Fetal Brain Female	brain
32	chr1:155248400-155249600	Enhancers	A549	lung
33	chr1:155248400-155252200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:155248400-155253800	Weak transcription	Spleen	Spleen
35	chr1:155248400-155254400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:155248400-155257600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:155248400-155257800	Weak transcription	Right Ventricle	heart
38	chr1:155248400-155258200	Weak transcription	Ovary	ovary
39	chr1:155248400-155259200	Weak transcription	HSMMtube	muscle
40	chr1:155248400-155259600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:155248600-155249000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr1:155248600-155249000	Enhancers	Colonic Mucosa	Colon
43	chr1:155248600-155249000	Enhancers	Fetal Kidney	kidney
44	chr1:155248600-155249200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:155248600-155249200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:155248600-155249200	Enhancers	Brain Substantia Nigra	brain
47	chr1:155248600-155249200	Enhancers	Fetal Intestine Small	intestine
48	chr1:155248600-155249200	Enhancers	NHEK	skin
49	chr1:155248600-155249400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr1:155248600-155249400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links