Variant report

Variant	rs17101262
Chromosome Location	chr14:24569404-24569405
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	chr14:24569189-24569509	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:24569180-24569606	Hela-S3	cervix:	n/a	n/a
3	HEY1	chr14:24567824-24569739	HepG2	liver:	n/a	chr14:24568464-24568479
4	POLR2A	chr14:24567192-24569707	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:24567257-24575750	K562	blood:	n/a	n/a
6	POLR2A	chr14:24566781-24575895	HepG2	liver:	n/a	n/a
7	ZNF143	chr14:24569356-24569556	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:24567258-24569697	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:24569009-24569709	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr14:24567015-24573655	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24561906..24569428-chr14:24581597..24585823,19	K562	blood:
2	chr14:24567915..24570074-chr14:24684734..24686679,2	K562	blood:
3	chr14:24551865..24554572-chr14:24567241..24570217,2	K562	blood:

Variant related genes	Relation type
PCK2	TF binding region
ENSG00000129535	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000100897	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10132601	1.00[CHB][hapmap]
rs10138006	1.00[CHD][hapmap]
rs1043612	1.00[LWK][hapmap]
rs11574512	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs11620720	1.00[CHD][hapmap]
rs11622481	1.00[CHB][hapmap]
rs17101962	1.00[CHB][hapmap]
rs2229462	1.00[MEX][hapmap]
rs2229464	1.00[CHB][hapmap]
rs2229660	1.00[CHB][hapmap]
rs2855009	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7141186	1.00[LWK][hapmap]
rs7146599	1.00[CHB][hapmap]
rs7147300	1.00[LWK][hapmap]
rs7155723	1.00[CHD][hapmap];1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv1049316	chr14:24405420-24583724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv541999	chr14:24405420-24583724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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	106 gene(s)	inside rSNPs	diseases
5	nsv456168	chr14:24525634-24618859	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv564057	chr14:24525634-24618859	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24564200-24575200	Weak transcription	Aorta	Aorta
2	chr14:24564600-24570000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:24564800-24571600	Weak transcription	Small Intestine	intestine
4	chr14:24564800-24582600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:24565000-24573000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:24565000-24575200	Weak transcription	HUVEC	blood vessel
7	chr14:24565000-24578000	Weak transcription	Brain Anterior Caudate	brain
8	chr14:24565000-24582600	Weak transcription	HSMM	muscle
9	chr14:24565200-24571000	Strong transcription	NHEK	skin
10	chr14:24565200-24571600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:24565200-24572800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:24565200-24573000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:24565200-24574000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr14:24565200-24575000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:24565200-24576000	Weak transcription	Fetal Kidney	kidney
16	chr14:24565200-24576800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:24565200-24577800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr14:24565200-24578000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:24565200-24578000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr14:24565200-24578000	Weak transcription	Brain Angular Gyrus	brain
21	chr14:24565200-24578000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:24565200-24578000	Weak transcription	Hela-S3	cervix
23	chr14:24565200-24578000	Weak transcription	NHDF-Ad	bronchial
24	chr14:24565200-24582600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:24565200-24582600	Weak transcription	Left Ventricle	heart
26	chr14:24565400-24570800	Genic enhancers	Fetal Intestine Small	intestine
27	chr14:24565800-24569600	Strong transcription	NHLF	lung
28	chr14:24565800-24574200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr14:24565800-24574200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr14:24565800-24574400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr14:24566000-24571000	Strong transcription	Primary B cells from cord blood	blood
32	chr14:24566000-24571000	Strong transcription	Fetal Stomach	stomach
33	chr14:24566000-24572600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:24566000-24572800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:24566000-24573200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:24566000-24573600	Genic enhancers	Liver	Liver
37	chr14:24566000-24574200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:24566200-24570800	Genic enhancers	HepG2	liver
39	chr14:24566200-24572800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:24566200-24573200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:24566200-24573400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr14:24566200-24573800	Strong transcription	Dnd41	blood
43	chr14:24566200-24574000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:24566200-24574400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:24566400-24574000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:24566400-24575000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr14:24566800-24573200	Strong transcription	Spleen	Spleen
48	chr14:24567000-24570600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr14:24567000-24573600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr14:24567000-24574000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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