Variant report

Variant	rs3796221
Chromosome Location	chr3:191048736-191048737
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	MAX	chr3:191046768-191048822	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr3:191046549-191048828	HUVEC	blood vessel:	n/a	n/a
3	RELA	chr3:191046517-191048835	GM18951	blood:	n/a	n/a
4	MXI1	chr3:191047769-191049062	Hela-S3	cervix:	n/a	n/a
5	RFX5	chr3:191046576-191049678	Hela-S3	cervix:	n/a	n/a
6	ELK4	chr3:191047896-191048798	Hela-S3	cervix:	n/a	n/a
7	CUX1	chr3:191047969-191048970	K562	blood:	n/a	n/a
8	GTF2F1	chr3:191047516-191048903	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr3:191047937-191050305	PFSK-1	brain:	n/a	n/a
10	RCOR1	chr3:191046379-191049021	Hela-S3	cervix:	n/a	n/a
11	CHD1	chr3:191046720-191049324	GM12878	blood:	n/a	n/a
12	POLR2A	chr3:191046465-191048917	Hela-S3	cervix:	n/a	n/a
13	SMC3	chr3:191047778-191049011	Hela-S3	cervix:	n/a	n/a
14	TBP	chr3:191047805-191049575	Hela-S3	cervix:	n/a	n/a
15	FOS	chr3:191048225-191048818	MCF10A-Er-Src	breast:	n/a	n/a
16	CCNT2	chr3:191048215-191048802	K562	blood:	n/a	n/a
17	POLR2A	chr3:191046459-191049825	IMR90	lung:	n/a	n/a
18	STAT3	chr3:191048697-191049136	GM12878	blood:	n/a	n/a
19	MAFK	chr3:191047806-191048757	Hela-S3	cervix:	n/a	chr3:191048280-191048291 chr3:191048366-191048382
20	EP300	chr3:191048166-191048781	Hela-S3	cervix:	n/a	n/a
21	SMC3	chr3:191048710-191048894	GM12878	blood:	n/a	n/a
22	SMARCC1	chr3:191046178-191049116	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr3:191047888-191049561	Hela-S3	cervix:	n/a	chr3:191048415-191048422
24	POLR2A	chr3:191046715-191049414	MCF10A-Er-Src	breast:	n/a	n/a
25	CHD2	chr3:191046509-191048808	Hela-S3	cervix:	n/a	n/a
26	TCF7L2	chr3:191047699-191048925	Hela-S3	cervix:	n/a	chr3:191048762-191048778
27	MAX	chr3:191048604-191048802	GM12878	blood:	n/a	n/a
28	POLR2A	chr3:191046524-191048991	GM12878	blood:	n/a	n/a
29	POLR2A	chr3:191046119-191048998	HepG2	liver:	n/a	n/a
30	POLR2A	chr3:191046800-191048836	Hela-S3	cervix:	n/a	n/a
31	RAD21	chr3:191047831-191049236	Hela-S3	cervix:	n/a	n/a
32	RCOR1	chr3:191046313-191048935	K562	blood:	n/a	n/a
33	RAD21	chr3:191046474-191048770	IMR90	lung:	n/a	n/a
34	MAZ	chr3:191046379-191048760	Hela-S3	cervix:	n/a	n/a
35	HCFC1	chr3:191046615-191050300	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr3:191048595-191048912	GM12878	blood:	n/a	n/a
37	TFAP2A	chr3:191046616-191048857	Hela-S3	cervix:	n/a	chr3:191048453-191048463 chr3:191048453-191048463 chr3:191047605-191047620 chr3:191048453-191048463 chr3:191048451-191048465 chr3:191048453-191048463 chr3:191048449-191048464 chr3:191048451-191048465
38	MXI1	chr3:191048661-191048781	GM12878	blood:	n/a	n/a
39	WRNIP1	chr3:191047769-191048922	GM12878	blood:	n/a	n/a
40	JUND	chr3:191046235-191048838	K562	blood:	n/a	chr3:191047734-191047743 chr3:191047650-191047659 chr3:191047735-191047744 chr3:191047733-191047742 chr3:191047131-191047140 chr3:191047736-191047745 chr3:191047737-191047746 chr3:191047732-191047741
41	POLR2A	chr3:191048680-191048944	GM12878	blood:	n/a	n/a
42	POLR2A	chr3:191046203-191049324	PFSK-1	brain:	n/a	n/a
43	CEBPB	chr3:191046462-191049578	Hela-S3	cervix:	n/a	chr3:191049272-191049285 chr3:191048401-191048412 chr3:191049287-191049298 chr3:191049286-191049303 chr3:191049287-191049300
44	CTCF	chr3:191048620-191048770	AG10803	skin:	n/a	n/a
45	TFAP2C	chr3:191046655-191048851	Hela-S3	cervix:	n/a	chr3:191047002-191047017
46	MXI1	chr3:191046334-191049099	IMR90	lung:	n/a	n/a
47	STAT3	chr3:191048203-191048742	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:190999845..191001643-chr3:191046703..191048798,2	MCF-7	breast:
2	chr3:191044441..191046950-chr3:191048340..191050123,2	K562	blood:
3	chr3:191040727..191042782-chr3:191048690..191050296,2	K562	blood:

Variant related genes	Relation type
UTS2B	TF binding region
ENSG00000188958	Chromatin interaction
ENSG00000152492	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12636442	1.00[EUR][1000 genomes]
rs12636482	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16866491	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3796222	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56772293	1.00[EUR][1000 genomes]
rs61177977	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6789446	0.85[EUR][1000 genomes]
rs73888563	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv878101	chr3:190891939-191059322	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1851611	chr3:191028147-191073560	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv4169	chr3:191036298-191063465	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv10370	chr3:191046223-191049560	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv980108	chr3:191047936-191051389	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191046200-191049200	Active TSS	Brain Angular Gyrus	brain
2	chr3:191046200-191049800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:191046200-191049800	Active TSS	Stomach Smooth Muscle	stomach
4	chr3:191046400-191048800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:191046400-191049800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr3:191046600-191048800	Active TSS	Fetal Muscle Trunk	muscle
7	chr3:191046600-191049000	Active TSS	Colonic Mucosa	Colon
8	chr3:191046600-191049000	Active TSS	Fetal Intestine Large	intestine
9	chr3:191046600-191049000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr3:191046600-191049000	Active TSS	Left Ventricle	heart
11	chr3:191046600-191049200	Active TSS	HSMM	muscle
12	chr3:191046600-191049600	Active TSS	HSMMtube	muscle
13	chr3:191046600-191049800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:191046600-191049800	Active TSS	Ovary	ovary
15	chr3:191046600-191049800	Active TSS	Right Ventricle	heart
16	chr3:191046600-191050000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:191046600-191050200	Active TSS	Psoas Muscle	Psoas
18	chr3:191046600-191050600	Active TSS	Aorta	Aorta
19	chr3:191046600-191050600	Active TSS	Right Atrium	heart
20	chr3:191046800-191048800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr3:191046800-191048800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:191046800-191048800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:191046800-191048800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:191046800-191048800	Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr3:191046800-191048800	Active TSS	Colon Smooth Muscle	Colon
26	chr3:191046800-191048800	Active TSS	Esophagus	oesophagus
27	chr3:191046800-191048800	Active TSS	Fetal Kidney	kidney
28	chr3:191046800-191048800	Active TSS	Gastric	stomach
29	chr3:191046800-191048800	Active TSS	Small Intestine	intestine
30	chr3:191046800-191048800	Active TSS	NHDF-Ad	bronchial
31	chr3:191046800-191049000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:191046800-191049000	Active TSS	Lung	lung
33	chr3:191046800-191049000	Active TSS	A549	lung
34	chr3:191046800-191049000	Bivalent/Poised TSS	HepG2	liver
35	chr3:191046800-191049400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:191046800-191049400	Active TSS	Fetal Brain Female	brain
37	chr3:191046800-191049600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:191046800-191049800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:191047000-191048800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:191047000-191048800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr3:191047000-191048800	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr3:191047000-191048800	Active TSS	Fetal Brain Male	brain
43	chr3:191047000-191049000	Active TSS	Brain Anterior Caudate	brain
44	chr3:191047000-191049200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:191047000-191049200	Active TSS	Muscle Satellite Cultured Cells	--
46	chr3:191047000-191049200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:191047000-191049600	Active TSS	HUVEC	blood vessel
48	chr3:191047000-191049600	Active TSS	NHEK	skin
49	chr3:191047000-191049800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr3:191047000-191049800	Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links