Variant report

Variant	rs2370143
Chromosome Location	chr11:67351774-67351775
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	chr11:67351683-67352153	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:67351565-67352066	GM12892	blood:	n/a	n/a
3	SIN3AK20	chr11:67350851-67351874	PANC-1	pancreas:	n/a	n/a
4	TAF1	chr11:67351642-67352008	A549	lung:	n/a	n/a
5	POLR2A	chr11:67351080-67352068	GM12878	blood:	n/a	n/a
6	UBTF	chr11:67351763-67351963	K562	blood:	n/a	n/a
7	POLR2A	chr11:67350935-67352160	GM12891	blood:	n/a	n/a
8	ETS1	chr11:67351769-67352009	K562	blood:	n/a	n/a
9	REST	chr11:67350865-67351980	HL-60	blood:	n/a	chr11:67351086-67351099 chr11:67351407-67351420
10	POLR2A	chr11:67351630-67352207	A549	lung:	n/a	n/a
11	POLR2A	chr11:67350885-67351997	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:67350848-67352065	SK-N-SH	brain:	n/a	n/a
13	HMGN3	chr11:67350873-67352133	K562	blood:	n/a	chr11:67351214-67351223
14	POLR2A	chr11:67350846-67356110	GM12878	blood:	n/a	n/a
15	MAZ	chr11:67350920-67352132	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:67350656-67352260	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr11:67350880-67353764	K562	blood:	n/a	n/a
18	POLR2A	chr11:67351705-67352052	HCT-116	colon:	n/a	n/a
19	POLR2A	chr11:67351557-67352126	K562	blood:	n/a	n/a
20	FOSL2	chr11:67350922-67351827	A549	lung:	n/a	chr11:67351214-67351226 chr11:67351216-67351224 chr11:67351215-67351225 chr11:67351237-67351246
21	POU2F2	chr11:67351594-67352569	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:67350894-67352184	GM12892	blood:	n/a	n/a
23	POLR2A	chr11:67350919-67352069	GM18526	blood:	n/a	n/a
24	SIN3AK20	chr11:67351622-67352012	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr11:67350946-67352254	GM19193	blood:	n/a	n/a
26	ELF1	chr11:67351561-67351979	K562	blood:	n/a	n/a
27	RAD21	chr11:67350848-67352077	SK-N-SH	brain:	n/a	n/a
28	MAX	chr11:67351526-67352020	K562	blood:	n/a	n/a
29	POLR2A	chr11:67350853-67353368	GM12892	blood:	n/a	n/a
30	MYC	chr11:67350861-67352553	MCF10A-Er-Src	breast:	n/a	n/a
31	TBL1XR1	chr11:67351658-67351941	K562	blood:	n/a	n/a
32	TAF1	chr11:67350842-67352136	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:67350918-67352665	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:67351526-67354804	H1-hESC	embryonic stem cell:	n/a	n/a
35	E2F6	chr11:67350855-67352087	H1-hESC	embryonic stem cell:	n/a	chr11:67351519-67351531 chr11:67351843-67351854 chr11:67351519-67351528 chr11:67351231-67351240 chr11:67351779-67351790
36	MAX	chr11:67350831-67352632	A549	lung:	n/a	n/a
37	POLR2A	chr11:67350855-67351968	K562	blood:	n/a	n/a
38	TEAD4	chr11:67351541-67351984	K562	blood:	n/a	n/a
39	PML	chr11:67350785-67352167	GM12878	blood:	n/a	n/a
40	TAF1	chr11:67351765-67352090	SK-N-SH	brain:	n/a	n/a
41	MYC	chr11:67350924-67352078	NB4	blood:	n/a	n/a
42	MAX	chr11:67351667-67352111	K562	blood:	n/a	n/a
43	JUND	chr11:67351719-67352089	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUN	chr11:67350726-67353062	K562	blood:	n/a	chr11:67351214-67351226 chr11:67351216-67351224 chr11:67351215-67351225 chr11:67351237-67351246
45	POLR2A	chr11:67350864-67353228	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr11:67350852-67352189	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr11:67351377-67351964	H1-hESC	embryonic stem cell:	n/a	chr11:67351520-67351530
48	STAT5A	chr11:67350809-67352592	GM12878	blood:	n/a	chr11:67351521-67351533 chr11:67351520-67351532 chr11:67350909-67350921 chr11:67351501-67351513
49	SPI1	chr11:67351575-67351968	HL-60	blood:	n/a	n/a
50	ZBTB7A	chr11:67350845-67352004	K562	blood:	n/a	chr11:67351483-67351491

No.	Distal block	Cell Line	Cell type
1	chr11:67349088..67352896-chr11:67377453..67387652,15	K562	blood:
2	chr11:67348020..67353194-chr11:67379787..67385803,14	K562	blood:
3	chr11:67269844..67272585-chr11:67351352..67354034,3	K562	blood:
4	chr11:67347575..67355744-chr11:67372717..67376912,13	K562	blood:
5	chr11:67347249..67355748-chr11:67372717..67377095,16	K562	blood:
6	chr11:67344360..67352769-chr11:67395394..67400721,12	K562	blood:
7	chr11:67269985..67274388-chr11:67349964..67354078,4	K562	blood:
8	chr11:67169390..67171344-chr11:67351281..67353180,2	K562	blood:
9	chr11:67348847..67353254-chr11:67396059..67399206,10	K562	blood:
10	chr11:67351259..67353873-chr11:67373020..67375265,2	MCF-7	breast:
11	chr11:67274528..67277767-chr11:67349958..67353064,4	K562	blood:

Variant related genes	Relation type
GSTP1	TF binding region
ENSG00000167797	Chromatin interaction
ENSG00000184224	Chromatin interaction
ENSG00000231793	Chromatin interaction
ENSG00000255119	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000110697	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1079719	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896181	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11603735	0.87[ASN][1000 genomes]
rs11605586	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17593068	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1871042	0.88[ASN][1000 genomes]
rs2370141	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2370142	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36211089	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4930436	0.84[EUR][1000 genomes]
rs55854833	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6591249	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6591251	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6591252	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6591253	0.81[ASN][1000 genomes]
rs6591254	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6591255	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6591256	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6591258	0.88[ASN][1000 genomes]
rs7103713	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7106423	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7106675	0.82[EUR][1000 genomes]
rs7108426	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs749174	0.87[ASN][1000 genomes]
rs762803	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927657	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7940813	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7941395	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7941648	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7945035	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7945927	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7948478	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7948823	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7948911	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7949394	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7949587	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7952081	0.82[EUR][1000 genomes]
rs947895	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
4	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
6	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
7	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv1050463	chr11:67343421-67717338	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
11	nsv1038189	chr11:67345320-67749246	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1047236	chr11:67345320-67764068	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv555268	chr11:67346743-67752972	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
14	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
15	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
16	nsv897815	chr11:67347595-67408791	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv1053811	chr11:67349444-67749246	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
18	esv1817852	chr11:67349899-67626567	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2370143	GSTP1	cis	Esophagus Muscularis	GTEx
rs2370143	PTPRCAP	cis	Nerve Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67350000-67351800	Active TSS	Brain Anterior Caudate	brain
2	chr11:67350000-67352000	Active TSS	Brain Germinal Matrix	brain
3	chr11:67350200-67351800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:67350200-67352000	Active TSS	Rectal Smooth Muscle	rectum
5	chr11:67350200-67352200	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr11:67350400-67352000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:67350400-67352000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:67350400-67352000	Active TSS	Duodenum Mucosa	Duodenum
9	chr11:67350400-67352000	Active TSS	Fetal Lung	lung
10	chr11:67350400-67352000	Active TSS	K562	blood
11	chr11:67350400-67352200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:67350400-67352200	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:67350400-67352200	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr11:67350400-67352200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:67350400-67352200	Active TSS	Psoas Muscle	Psoas
16	chr11:67350400-67352200	Active TSS	HSMMtube	muscle
17	chr11:67350400-67352400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:67350400-67352400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:67350400-67352400	Active TSS	HSMM	muscle
20	chr11:67350400-67352800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:67350600-67351800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:67350600-67351800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:67350600-67351800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr11:67350600-67351800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:67350600-67351800	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr11:67350600-67351800	Active TSS	Primary T cells from cord blood	blood
27	chr11:67350600-67351800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:67350600-67351800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr11:67350600-67351800	Active TSS	Fetal Brain Female	brain
30	chr11:67350600-67351800	Active TSS	Fetal Intestine Large	intestine
31	chr11:67350600-67352000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr11:67350600-67352000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:67350600-67352000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:67350600-67352000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:67350600-67352000	Active TSS	Brain Angular Gyrus	brain
36	chr11:67350600-67352000	Active TSS	Brain Cingulate Gyrus	brain
37	chr11:67350600-67352000	Active TSS	Brain Hippocampus Middle	brain
38	chr11:67350600-67352000	Active TSS	Fetal Stomach	stomach
39	chr11:67350600-67352000	Active TSS	Lung	lung
40	chr11:67350600-67352000	Active TSS	Stomach Smooth Muscle	stomach
41	chr11:67350600-67352000	Active TSS	A549	lung
42	chr11:67350600-67352000	Active TSS	GM12878-XiMat	blood
43	chr11:67350600-67352000	Active TSS	NHDF-Ad	bronchial
44	chr11:67350600-67352200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:67350600-67352200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:67350600-67352200	Active TSS	Muscle Satellite Cultured Cells	--
47	chr11:67350600-67352200	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr11:67350600-67352200	Active TSS	Left Ventricle	heart
49	chr11:67350600-67352200	Transcr. at gene 5' and 3'	Right Atrium	heart
50	chr11:67350600-67352200	Active TSS	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links