Variant report

Variant	rs2256826
Chromosome Location	chr1:119544972-119544973
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	FOSL2	chr1:119544680-119545079	MCF-7	breast:	n/a	chr1:119544836-119544844 chr1:119544833-119544841
2	CEBPB	chr1:119544603-119545099	MCF-7	breast:	n/a	chr1:119544848-119544861
3	CEBPB	chr1:119544663-119545114	MCF-7	breast:	n/a	chr1:119544848-119544861
4	CEBPB	chr1:119544639-119545016	K562	blood:	n/a	chr1:119544848-119544861
5	JUN	chr1:119544571-119545280	K562	blood:	n/a	chr1:119545146-119545155 chr1:119544836-119544844 chr1:119544833-119544841
6	GATA2	chr1:119544718-119545099	HUVEC	blood vessel:	n/a	n/a
7	MYC	chr1:119544646-119545025	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr1:119543860-119545134	U87	brain:	n/a	n/a
9	ATF1	chr1:119544684-119545016	K562	blood:	n/a	n/a
10	FOSL1	chr1:119544670-119544994	K562	blood:	n/a	chr1:119544836-119544844 chr1:119544833-119544841
11	CEBPB	chr1:119544659-119545048	Hela-S3	cervix:	n/a	chr1:119544848-119544861
12	POLR2A	chr1:119544446-119545050	U87	brain:	n/a	n/a
13	POLR2A	chr1:119543860-119545140	U87	brain:	n/a	n/a
14	USF1	chr1:119544952-119545362	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr1:119544605-119545046	ECC-1	luminal epithelium:	n/a	chr1:119544848-119544861
16	FOS	chr1:119544646-119545000	MCF10A-Er-Src	breast:	n/a	chr1:119544831-119544842 chr1:119544836-119544844 chr1:119544833-119544841
17	MYC	chr1:119544270-119545068	NB4	blood:	n/a	n/a
18	FOS	chr1:119544652-119545017	HUVEC	blood vessel:	n/a	chr1:119544831-119544842 chr1:119544836-119544844 chr1:119544833-119544841
19	POLR2A	chr1:119544462-119545050	U87	brain:	n/a	n/a
20	CEBPB	chr1:119544792-119544999	HepG2	liver:	n/a	chr1:119544848-119544861
21	CEBPB	chr1:119544723-119545010	K562	blood:	n/a	chr1:119544848-119544861
22	CEBPB	chr1:119544669-119545052	IMR90	lung:	n/a	chr1:119544848-119544861
23	SUZ12	chr1:119541547-119545380	H1-hESC	embryonic stem cell:	n/a	n/a
24	STAT3	chr1:119544685-119545123	MCF10A-Er-Src	breast:	n/a	n/a
25	TEAD4	chr1:119544585-119545028	K562	blood:	n/a	chr1:119544878-119544887
26	FOS	chr1:119544636-119545021	MCF10A-Er-Src	breast:	n/a	chr1:119544831-119544842 chr1:119544836-119544844 chr1:119544833-119544841
27	CEBPB	chr1:119544662-119545019	K562	blood:	n/a	chr1:119544848-119544861
28	MYC	chr1:119544554-119545019	MCF10A-Er-Src	breast:	n/a	n/a
29	CEBPB	chr1:119544562-119545130	HCT-116	colon:	n/a	chr1:119544848-119544861
30	MYC	chr1:119544728-119544974	K562	blood:	n/a	n/a
31	JUND	chr1:119544536-119545070	K562	blood:	n/a	chr1:119544836-119544844 chr1:119544833-119544841
32	SMC3	chr1:119544705-119544974	Hela-S3	cervix:	n/a	n/a
33	FOS	chr1:119544542-119545024	MCF10A-Er-Src	breast:	n/a	chr1:119544831-119544842 chr1:119544836-119544844 chr1:119544833-119544841
34	MAX	chr1:119543928-119545396	NB4	blood:	n/a	chr1:119544244-119544254 chr1:119544240-119544250
35	CEBPB	chr1:119544806-119544984	H1-hESC	embryonic stem cell:	n/a	chr1:119544848-119544861
36	FOS	chr1:119544634-119545022	MCF10A-Er-Src	breast:	n/a	chr1:119544831-119544842 chr1:119544836-119544844 chr1:119544833-119544841
37	RAD21	chr1:119544817-119545004	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:119539034..119541782-chr1:119544151..119546795,2	K562	blood:
2	chr1:119429635..119431905-chr1:119544263..119546564,2	MCF-7	breast:
3	chr1:119543314..119545923-chr1:119682082..119684862,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239216	TF binding region
ENSG00000226172	TF binding region
ENSG00000116874	Chromatin interaction
ENSG00000231365	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1014098	0.93[YRI][hapmap]
rs17022901	0.90[AFR][1000 genomes]
rs2256171	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645286	0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs2645287	0.90[AFR][1000 genomes]
rs2645298	0.86[AFR][1000 genomes]
rs2645304	0.90[AFR][1000 genomes]
rs2645306	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645307	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2765535	0.90[AFR][1000 genomes]
rs2799756	0.86[AFR][1000 genomes]
rs2799757	0.90[AFR][1000 genomes]
rs2799758	0.90[AFR][1000 genomes]
rs2810933	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs2810934	0.84[AFR][1000 genomes]
rs74112208	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv997707	chr1:119199568-119595949	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
5	nsv1001322	chr1:119527403-119569504	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119542000-119545000	Weak transcription	HepG2	liver
2	chr1:119542800-119545000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
3	chr1:119542800-119545200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:119542800-119545200	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr1:119542800-119545200	Enhancers	NHDF-Ad	bronchial
6	chr1:119543000-119545000	Bivalent Enhancer	Liver	Liver
7	chr1:119543000-119545200	Bivalent Enhancer	Lung	lung
8	chr1:119543000-119545400	Bivalent Enhancer	Placenta	Placenta
9	chr1:119543400-119545000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
10	chr1:119543800-119545400	Enhancers	HSMM	muscle
11	chr1:119544000-119545000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:119544000-119545000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:119544000-119545000	Bivalent Enhancer	Left Ventricle	heart
14	chr1:119544000-119545200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:119544000-119545400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:119544200-119545200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:119544200-119545200	Bivalent Enhancer	Esophagus	oesophagus
18	chr1:119544200-119545200	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr1:119544400-119545000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
20	chr1:119544400-119545200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr1:119544400-119545200	Flanking Active TSS	Hela-S3	cervix
22	chr1:119544400-119545200	Enhancers	HSMMtube	muscle
23	chr1:119544400-119545200	Bivalent Enhancer	NHLF	lung
24	chr1:119544400-119545200	Flanking Active TSS	Osteobl	bone
25	chr1:119544400-119545400	Bivalent Enhancer	GM12878-XiMat	blood
26	chr1:119544400-119545400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
27	chr1:119544400-119546000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:119544400-119546000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr1:119544600-119545000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr1:119544600-119545000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
31	chr1:119544600-119545000	Enhancers	Right Ventricle	heart
32	chr1:119544600-119545000	Bivalent Enhancer	NH-A	brain
33	chr1:119544600-119545200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:119544600-119545200	Flanking Active TSS	NHEK	skin
35	chr1:119544600-119545400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:119544600-119545400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:119544600-119546000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
38	chr1:119544600-119547000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:119544800-119545000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
40	chr1:119544800-119545000	Bivalent Enhancer	Primary B cells from cord blood	blood
41	chr1:119544800-119545000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
42	chr1:119544800-119545000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
43	chr1:119544800-119545000	Bivalent/Poised TSS	Colonic Mucosa	Colon
44	chr1:119544800-119545000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
45	chr1:119544800-119545000	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr1:119544800-119545000	Bivalent Enhancer	Spleen	Spleen
47	chr1:119544800-119545000	Bivalent Enhancer	HUVEC	blood vessel
48	chr1:119544800-119545200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
49	chr1:119544800-119545200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:119544800-119545200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon

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