Variant report

Variant	rs7944319
Chromosome Location	chr11:58984030-58984031
allele	A/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	RELA	chr11:58984025-58984817	GM18505	blood:	n/a	n/a
2	RELA	chr11:58983980-58984877	GM19099	blood:	n/a	n/a
3	SP1	chr11:58983940-58984772	GM12878	blood:	n/a	n/a
4	ATF2	chr11:58983830-58984962	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:58983973-58984862	GM12892	blood:	n/a	n/a
6	CREB1	chr11:58984006-58984885	GM12878	blood:	n/a	n/a
7	PAX5	chr11:58983901-58984896	GM12878	blood:	n/a	chr11:58984452-58984461 chr11:58984449-58984458
8	RUNX3	chr11:58983838-58985112	GM12878	blood:	n/a	n/a
9	STAT5A	chr11:58983968-58985011	GM12878	blood:	n/a	chr11:58984476-58984483
10	IRF4	chr11:58983848-58984869	GM12878	blood:	n/a	n/a
11	CREB1	chr11:58983961-58984861	GM12878	blood:	n/a	n/a
12	TCF12	chr11:58983998-58984781	GM12878	blood:	n/a	chr11:58984598-58984605
13	BATF	chr11:58984024-58984785	GM12878	blood:	n/a	n/a
14	BCLAF1	chr11:58983977-58984746	GM12878	blood:	n/a	chr11:58984449-58984458
15	EP300	chr11:58983922-58984792	GM12878	blood:	n/a	chr11:58984473-58984482 chr11:58984144-58984158 chr11:58984449-58984463
16	PML	chr11:58983861-58985185	GM12878	blood:	n/a	n/a
17	RELA	chr11:58983983-58984936	GM19193	blood:	n/a	n/a
18	EBF1	chr11:58984030-58984704	GM12878	blood:	n/a	n/a
19	POU2F2	chr11:58984029-58984699	GM12878	blood:	n/a	chr11:58984317-58984330 chr11:58984317-58984330 chr11:58984318-58984332 chr11:58984317-58984330
20	SPI1	chr11:58983867-58984860	GM12891	blood:	n/a	chr11:58984226-58984239 chr11:58984228-58984237 chr11:58984449-58984458 chr11:58984225-58984238 chr11:58984610-58984623
21	RELA	chr11:58983871-58984949	GM18951	blood:	n/a	n/a
22	IRF4	chr11:58983877-58984874	GM12878	blood:	n/a	n/a
23	TBL1XR1	chr11:58983973-58984937	GM12878	blood:	n/a	n/a
24	POU2F2	chr11:58984009-58984760	GM12878	blood:	n/a	chr11:58984317-58984330 chr11:58984317-58984330 chr11:58984318-58984332 chr11:58984317-58984330
25	CEBPB	chr11:58983839-58984882	GM12878	blood:	n/a	n/a
26	RELA	chr11:58983952-58985051	GM15510	blood:	n/a	n/a
27	IKZF1	chr11:58983887-58985123	GM12878	blood:	n/a	n/a
28	FOXM1	chr11:58983923-58985000	GM12878	blood:	n/a	n/a
29	PML	chr11:58983992-58984702	GM12878	blood:	n/a	n/a
30	MTA3	chr11:58983890-58984879	GM12878	blood:	n/a	n/a
31	BCL3	chr11:58983982-58984768	GM12878	blood:	n/a	chr11:58984449-58984458
32	BATF	chr11:58983806-58984982	GM12878	blood:	n/a	n/a
33	BCL11A	chr11:58983913-58984830	GM12878	blood:	n/a	chr11:58984449-58984458
34	RUNX3	chr11:58983839-58985157	GM12878	blood:	n/a	n/a
35	BCLAF1	chr11:58983847-58984902	GM12878	blood:	n/a	chr11:58984449-58984458
36	RELA	chr11:58983767-58985004	GM12891	blood:	n/a	n/a
37	REST	chr11:58983956-58984732	Hela-S3	cervix:	n/a	n/a
38	FOXM1	chr11:58983804-58985009	GM12878	blood:	n/a	n/a
39	BCL11A	chr11:58984030-58984800	GM12878	blood:	n/a	chr11:58984449-58984458
40	ATF2	chr11:58983868-58985051	GM12878	blood:	n/a	n/a
41	NFATC1	chr11:58983856-58985142	GM12878	blood:	n/a	n/a
42	MEF2A	chr11:58983926-58984864	GM12878	blood:	n/a	n/a
43	RCOR1	chr11:58984010-58985045	GM12878	blood:	n/a	n/a
44	MTA3	chr11:58983751-58985251	GM12878	blood:	n/a	n/a
45	POU2F2	chr11:58983983-58984722	GM12878	blood:	n/a	chr11:58984317-58984330 chr11:58984317-58984330 chr11:58984318-58984332 chr11:58984317-58984330
46	NFIC	chr11:58983826-58985160	GM12878	blood:	n/a	n/a
47	NFATC1	chr11:58983923-58984939	GM12878	blood:	n/a	n/a
48	NFIC	chr11:58983828-58985049	GM12878	blood:	n/a	n/a
49	SPI1	chr11:58983898-58984779	GM12878	blood:	n/a	chr11:58984226-58984239 chr11:58984228-58984237 chr11:58984449-58984458 chr11:58984225-58984238 chr11:58984610-58984623
50	STAT5A	chr11:58983923-58984863	GM12878	blood:	n/a	chr11:58984476-58984483

Variant related genes	Relation type
MPEG1	TF binding region
RN7SL42P	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11600401	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11606140	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11607278	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11607673	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12419479	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2000478	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2211912	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34697089	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3944255	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4369428	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4939269	0.83[EUR][1000 genomes]
rs5029315	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610123	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61903328	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6591509	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113633	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7113936	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7131079	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7928981	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7942710	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7944135	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7952377	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv3351601	chr11:58979308-59052763	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7944319	DTX4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58975400-58986600	Weak transcription	Gastric	stomach
2	chr11:58976000-58989400	Weak transcription	Stomach Mucosa	stomach
3	chr11:58979200-58989600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:58979800-58985200	Weak transcription	Pancreas	Pancrea
5	chr11:58980000-58984200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:58980400-58984200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:58980400-58984200	Weak transcription	Fetal Thymus	thymus
8	chr11:58980400-58984400	Weak transcription	Fetal Intestine Small	intestine
9	chr11:58980400-58991200	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:58981000-58984200	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:58981000-58984200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:58981000-58991600	Weak transcription	Spleen	Spleen
13	chr11:58982800-58986000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:58983000-58984400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr11:58983000-58984600	Enhancers	Placenta	Placenta
16	chr11:58983000-58985200	Enhancers	Primary hematopoietic stem cells	blood
17	chr11:58983200-58985000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:58983600-58984200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:58983600-58985000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:58983600-58985000	Flanking Active TSS	GM12878-XiMat	blood
21	chr11:58983600-58985200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr11:58983800-58984200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:58983800-58984200	Enhancers	Dnd41	blood
24	chr11:58983800-58985000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:58983800-58985400	Enhancers	Fetal Stomach	stomach
26	chr11:58984000-58984200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:58984000-58984400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr11:58984000-58984400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:58984000-58984600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr11:58984000-58984600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr11:58984000-58984600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr11:58984000-58984600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:58984000-58984800	Enhancers	Primary T cells from cord blood	blood
34	chr11:58984000-58984800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr11:58984000-58984800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:58984000-58984800	Flanking Active TSS	NHDF-Ad	bronchial
37	chr11:58984000-58985000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:58984000-58985000	Enhancers	Colon Smooth Muscle	Colon
39	chr11:58984000-58985000	Enhancers	HMEC	breast
40	chr11:58984000-58985000	Enhancers	NHEK	skin
41	chr11:58984000-58985200	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr11:58984000-58985200	Enhancers	Fetal Kidney	kidney
43	chr11:58984000-58985200	Enhancers	Fetal Lung	lung
44	chr11:58984000-58985800	Enhancers	Adipose Nuclei	Adipose

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