Variant report

Variant	rs3782984
Chromosome Location	chr13:98019698-98019699
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	POLR2A	chr13:98019266-98019703	HL-60	blood:	n/a	n/a
2	POLR2A	chr13:98019240-98020216	U87	brain:	n/a	n/a
3	MAFK	chr13:98019613-98019982	IMR90	lung:	n/a	chr13:98019812-98019822
4	POLR2A	chr13:98019240-98020210	U87	brain:	n/a	n/a
5	JUND	chr13:98019687-98019948	H1-hESC	embryonic stem cell:	n/a	chr13:98019812-98019823 chr13:98019813-98019823 chr13:98019812-98019824 chr13:98019814-98019822 chr13:98019815-98019822 chr13:98019814-98019822
6	FOS	chr13:98019686-98019911	MCF10A-Er-Src	breast:	n/a	chr13:98019812-98019823 chr13:98019813-98019823 chr13:98019812-98019824 chr13:98019814-98019822 chr13:98019815-98019822 chr13:98019814-98019822
7	POLR2A	chr13:98019595-98019699	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr13:98019424-98020083	IMR90	lung:	n/a	n/a
9	MYC	chr13:98019285-98020186	NB4	blood:	n/a	chr13:98019922-98019933 chr13:98019561-98019571 chr13:98019813-98019822
10	CTCF	chr13:98019560-98019710	HCPEpiC	choroid plexus:	n/a	chr13:98019573-98019591
11	MAX	chr13:98019385-98019725	H1-hESC	embryonic stem cell:	n/a	chr13:98019561-98019571
12	BACH1	chr13:98019491-98020073	H1-hESC	embryonic stem cell:	n/a	chr13:98019811-98019825
13	MAX	chr13:98019262-98020163	NB4	blood:	n/a	chr13:98019922-98019933 chr13:98019561-98019571 chr13:98019813-98019822
14	SIN3A	chr13:98019387-98020063	H1-hESC	embryonic stem cell:	n/a	n/a
15	FOS	chr13:98019680-98019953	MCF10A-Er-Src	breast:	n/a	chr13:98019812-98019823 chr13:98019813-98019823 chr13:98019812-98019824 chr13:98019814-98019822 chr13:98019815-98019822 chr13:98019814-98019822
16	CTCF	chr13:98019560-98019710	HBMEC	blood vessel:	n/a	chr13:98019573-98019591
17	POLR2A	chr13:98014322-98022665	K562	blood:	n/a	n/a
18	POLR2A	chr13:98019691-98020259	HepG2	liver:	n/a	n/a
19	MAX	chr13:98019359-98019810	H1-hESC	embryonic stem cell:	n/a	chr13:98019561-98019571
20	RUNX3	chr13:98019281-98019774	GM12878	blood:	n/a	n/a
21	MXI1	chr13:98019068-98020148	IMR90	lung:	n/a	n/a
22	POLR2A	chr13:98019252-98020201	U87	brain:	n/a	n/a
23	RUNX3	chr13:98019344-98019756	GM12878	blood:	n/a	n/a
24	FOS	chr13:98019680-98019996	MCF10A-Er-Src	breast:	n/a	chr13:98019812-98019823 chr13:98019813-98019823 chr13:98019812-98019824 chr13:98019814-98019822 chr13:98019815-98019822 chr13:98019814-98019822
25	MAFK	chr13:98019404-98019969	H1-hESC	embryonic stem cell:	n/a	chr13:98019812-98019822

Variant related genes	Relation type
RNA5SP37	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11839205	1.00[CEU][hapmap];0.85[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11843522	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1553010	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap]
rs1553011	0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap]
rs17301432	0.91[CEU][hapmap];0.84[CHB][hapmap]
rs3782986	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7992346	0.82[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs875104	0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap]
rs9300406	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9513238	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9516916	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9582128	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9584563	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9584565	0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832694	chr13:97930561-98137882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1038798	chr13:98008467-98068130	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97982600-98020800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:97991600-98020800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr13:97992800-98020800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr13:97995400-98050200	Weak transcription	Small Intestine	intestine
5	chr13:98002400-98027200	Weak transcription	Lung	lung
6	chr13:98002400-98039600	Weak transcription	Spleen	Spleen
7	chr13:98002600-98021600	Weak transcription	Colonic Mucosa	Colon
8	chr13:98003200-98021200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr13:98004000-98021000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr13:98005400-98021600	Weak transcription	Thymus	Thymus
11	chr13:98006600-98020600	Strong transcription	HUVEC	blood vessel
12	chr13:98010000-98027400	Weak transcription	Esophagus	oesophagus
13	chr13:98010800-98027400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr13:98011800-98020800	Weak transcription	Stomach Mucosa	stomach
15	chr13:98012200-98020400	Strong transcription	Fetal Lung	lung
16	chr13:98012800-98020200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:98013000-98020200	Strong transcription	Primary T cells from cord blood	blood
18	chr13:98013800-98021200	Weak transcription	NHEK	skin
19	chr13:98014800-98020000	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr13:98015000-98019800	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr13:98015200-98036600	Weak transcription	Fetal Heart	heart
22	chr13:98015600-98020400	Strong transcription	HepG2	liver
23	chr13:98015800-98020400	Strong transcription	K562	blood
24	chr13:98015800-98023600	Weak transcription	Gastric	stomach
25	chr13:98016400-98020600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr13:98016800-98020400	Strong transcription	Ovary	ovary
27	chr13:98017000-98021000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr13:98017200-98023600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr13:98017400-98021000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr13:98018000-98020000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:98018400-98020000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr13:98018400-98020200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr13:98018400-98020400	Strong transcription	Fetal Intestine Large	intestine
34	chr13:98018400-98020600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:98018400-98020600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr13:98018400-98020600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr13:98018400-98025000	Weak transcription	Fetal Brain Male	brain
38	chr13:98018600-98019800	Genic enhancers	Fetal Kidney	kidney
39	chr13:98018600-98020000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:98018600-98020000	Strong transcription	Hela-S3	cervix
41	chr13:98018600-98020000	Strong transcription	HMEC	breast
42	chr13:98018600-98020200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:98018600-98020200	Strong transcription	Aorta	Aorta
44	chr13:98018600-98020200	Genic enhancers	Liver	Liver
45	chr13:98018600-98020200	Genic enhancers	Left Ventricle	heart
46	chr13:98018600-98020200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr13:98018600-98020200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
48	chr13:98018600-98020400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr13:98018600-98020400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:98018600-98020400	Genic enhancers	Fetal Muscle Leg	muscle

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