Variant report

Variant	rs2274682
Chromosome Location	chr14:21555895-21555896
allele	G/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	RFX5	chr14:21555705-21556066	Hela-S3	cervix:	n/a	chr14:21555723-21555738 chr14:21555778-21555787 chr14:21555774-21555789 chr14:21555805-21555819 chr14:21555853-21555868 chr14:21555723-21555738 chr14:21556025-21556039 chr14:21555776-21555793 chr14:21555723-21555738 chr14:21555853-21555868 chr14:21556028-21556037 chr14:21555722-21555739 chr14:21555720-21555735 chr14:21555775-21555789 chr14:21555853-21555868
2	RCOR1	chr14:21555151-21556567	IMR90	lung:	n/a	n/a
3	MXI1	chr14:21555848-21556042	Hela-S3	cervix:	n/a	chr14:21555854-21555869 chr14:21555852-21555867
4	JUND	chr14:21555867-21556064	H1-hESC	embryonic stem cell:	n/a	chr14:21556010-21556020 chr14:21556010-21556020 chr14:21556009-21556020 chr14:21556010-21556019 chr14:21556010-21556020 chr14:21556010-21556020 chr14:21556009-21556021
5	POLR2A	chr14:21555275-21556438	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr14:21555174-21556432	H1-neurons	neurons:	n/a	n/a
7	SPI1	chr14:21555624-21555977	GM12891	blood:	n/a	chr14:21555820-21555827
8	MAX	chr14:21555555-21556126	H1-hESC	embryonic stem cell:	n/a	chr14:21555728-21555737 chr14:21555724-21555733 chr14:21556028-21556037
9	POLR2A	chr14:21555860-21555902	MCF-7	breast:	n/a	n/a
10	RCOR1	chr14:21555610-21556023	Hela-S3	cervix:	n/a	n/a
11	SIN3AK20	chr14:21555605-21556096	SK-N-SH	brain:	n/a	n/a
12	RFX5	chr14:21555622-21556052	HepG2	liver:	n/a	chr14:21555723-21555738 chr14:21555778-21555787 chr14:21555774-21555789 chr14:21555805-21555819 chr14:21555853-21555868 chr14:21555723-21555738 chr14:21556025-21556039 chr14:21555776-21555793 chr14:21555723-21555738 chr14:21555853-21555868 chr14:21556028-21556037 chr14:21555722-21555739 chr14:21555720-21555735 chr14:21555775-21555789 chr14:21555853-21555868
13	RCOR1	chr14:21555784-21555952	K562	blood:	n/a	n/a
14	RFX5	chr14:21555608-21556164	H1-hESC	embryonic stem cell:	n/a	chr14:21555723-21555738 chr14:21555778-21555787 chr14:21555774-21555789 chr14:21555805-21555819 chr14:21555853-21555868 chr14:21555723-21555738 chr14:21556025-21556039 chr14:21555776-21555793 chr14:21555723-21555738 chr14:21555853-21555868 chr14:21556028-21556037 chr14:21555722-21555739 chr14:21555720-21555735 chr14:21555775-21555789 chr14:21555853-21555868
15	POLR2A	chr14:21554852-21556439	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr14:21555118-21556285	IMR90	lung:	n/a	n/a
17	POLR2A	chr14:21554970-21556596	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr14:21555520-21556240	IMR90	lung:	n/a	n/a
19	POLR2A	chr14:21555795-21556053	Hela-S3	cervix:	n/a	n/a
20	JUN	chr14:21555722-21556187	HUVEC	blood vessel:	n/a	chr14:21556010-21556020 chr14:21556010-21556020 chr14:21556010-21556019 chr14:21556010-21556020 chr14:21556010-21556020 chr14:21556009-21556021
21	POLR2A	chr14:21555318-21556559	PFSK-1	brain:	n/a	n/a
22	MXI1	chr14:21555697-21556030	HepG2	liver:	n/a	chr14:21555722-21555737 chr14:21555778-21555793 chr14:21555854-21555869 chr14:21555724-21555739 chr14:21555852-21555867
23	JUND	chr14:21555414-21556163	H1-hESC	embryonic stem cell:	n/a	chr14:21556010-21556020 chr14:21556010-21556020 chr14:21556009-21556020 chr14:21556010-21556019 chr14:21556010-21556020 chr14:21556010-21556020 chr14:21556009-21556021
24	STAT3	chr14:21555871-21556139	MCF10A-Er-Src	breast:	n/a	chr14:21555966-21555974
25	MXI1	chr14:21555625-21556090	K562	blood:	n/a	chr14:21555722-21555737 chr14:21555778-21555793 chr14:21555854-21555869 chr14:21555724-21555739 chr14:21555852-21555867
26	POLR2A	chr14:21555008-21556591	HepG2	liver:	n/a	n/a
27	POLR2A	chr14:21555755-21556244	A549	lung:	n/a	n/a
28	POLR2A	chr14:21555423-21556621	HepG2	liver:	n/a	n/a
29	SIN3AK20	chr14:21555695-21556079	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr14:21555069-21556608	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr14:21555101-21556059	HepG2	liver:	n/a	n/a
32	FOS	chr14:21555843-21556180	MCF10A-Er-Src	breast:	n/a	chr14:21556010-21556020 chr14:21556010-21556020 chr14:21556009-21556020 chr14:21556010-21556019 chr14:21556010-21556020 chr14:21556010-21556020 chr14:21556009-21556021
33	POLR2A	chr14:21555074-21557640	HepG2	liver:	n/a	n/a
34	FOSL2	chr14:21555384-21556171	HepG2	liver:	n/a	chr14:21556010-21556020 chr14:21556010-21556020 chr14:21556010-21556019 chr14:21556010-21556020 chr14:21556010-21556020 chr14:21556009-21556021
35	FOS	chr14:21555609-21556205	HUVEC	blood vessel:	n/a	chr14:21556010-21556020 chr14:21556010-21556020 chr14:21556009-21556020 chr14:21556010-21556019 chr14:21556010-21556020 chr14:21556010-21556020 chr14:21556009-21556021
36	POLR2A	chr14:21555647-21556143	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr14:21555140-21556218	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr14:21555032-21556135	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr14:21555319-21556594	SK-N-MC	brain:	n/a	n/a
40	GABPA	chr14:21555730-21556138	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr14:21555080-21556300	H1-hESC	embryonic stem cell:	n/a	n/a
42	REST	chr14:21555176-21556414	H1-neurons	neurons:	n/a	chr14:21555272-21555282 chr14:21555452-21555465 chr14:21555270-21555284
43	POLR2A	chr14:21555735-21556051	HepG2	liver:	n/a	n/a
44	SPI1	chr14:21555568-21555991	HL-60	blood:	n/a	chr14:21555820-21555827
45	POLR2A	chr14:21555828-21556079	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr14:21555717-21556104	SK-N-SH	brain:	n/a	n/a
47	SIN3A	chr14:21555508-21556171	H1-hESC	embryonic stem cell:	n/a	n/a
48	RCOR1	chr14:21555629-21556112	K562	blood:	n/a	n/a
49	POLR2A	chr14:21555650-21556081	HepG2	liver:	n/a	n/a
50	SPI1	chr14:21555576-21556084	HL-60	blood:	n/a	chr14:21555820-21555827

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21537028..21541987-chr14:21553672..21557659,5	MCF-7	breast:
2	chr14:21554536..21557274-chr14:21571026..21572817,2	K562	blood:

Variant related genes	Relation type
ENSG00000258714	TF binding region
ARHGEF40	TF binding region
ENSG00000165801	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000165795	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10146334	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11621987	0.82[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2274679	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2274680	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3827912	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4982411	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs57471121	0.97[ASN][1000 genomes]
rs61405772	0.90[ASN][1000 genomes]
rs61744857	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73571904	0.85[ASN][1000 genomes]
rs73571905	0.82[ASN][1000 genomes]
rs8006832	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv528337	chr14:21540863-21565189	Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv525724	chr14:21540863-21574690	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21541000-21561000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:21541200-21557000	Weak transcription	Hela-S3	cervix
3	chr14:21541200-21561400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:21541400-21558000	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:21541400-21560200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:21541400-21560200	Strong transcription	Placenta	Placenta
7	chr14:21541600-21557000	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr14:21541600-21558800	Strong transcription	Fetal Lung	lung
9	chr14:21541600-21560400	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:21542000-21559800	Strong transcription	Stomach Smooth Muscle	stomach
11	chr14:21542400-21560200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:21542400-21560400	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:21543800-21561400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:21544200-21562200	Weak transcription	K562	blood
15	chr14:21545200-21565600	Weak transcription	Psoas Muscle	Psoas
16	chr14:21546200-21560400	Strong transcription	Pancreas	Pancrea
17	chr14:21548200-21562000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:21549200-21559000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:21550600-21557400	Strong transcription	Fetal Kidney	kidney
20	chr14:21551400-21562000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:21551800-21556400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:21552000-21556200	Genic enhancers	Adipose Nuclei	Adipose
23	chr14:21552400-21557200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:21553000-21556400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr14:21553400-21564400	Weak transcription	Right Atrium	heart
26	chr14:21553600-21556400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:21553600-21557200	Weak transcription	Stomach Mucosa	stomach
28	chr14:21553600-21558200	Weak transcription	Dnd41	blood
29	chr14:21553800-21559800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:21554000-21557000	Weak transcription	Esophagus	oesophagus
31	chr14:21554000-21557000	Weak transcription	Gastric	stomach
32	chr14:21554000-21557000	Weak transcription	HMEC	breast
33	chr14:21554000-21557800	Weak transcription	Small Intestine	intestine
34	chr14:21554000-21559800	Strong transcription	Liver	Liver
35	chr14:21554000-21560400	Strong transcription	HepG2	liver
36	chr14:21554000-21560600	Strong transcription	Fetal Intestine Small	intestine
37	chr14:21554000-21560800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:21554200-21556600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr14:21554200-21560600	Strong transcription	Fetal Intestine Large	intestine
40	chr14:21554800-21556400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:21554800-21556600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:21554800-21556600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr14:21554800-21556600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr14:21554800-21557000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr14:21554800-21557400	Genic enhancers	NHDF-Ad	bronchial
46	chr14:21554800-21557800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
47	chr14:21555000-21556200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:21555000-21556200	Enhancers	Primary hematopoietic stem cells	blood
49	chr14:21555000-21556200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr14:21555000-21556400	Enhancers	Primary B cells from cord blood	blood

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