Variant report

Variant	rs3757294
Chromosome Location	chr6:57181160-57181161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:57181101-57181964	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr6:57181158-57182915	HCT-116	colon:	n/a	n/a
3	MXI1	chr6:57181158-57183337	SK-N-SH	brain:	n/a	n/a
4	MXI1	chr6:57181072-57182912	IMR90	lung:	n/a	n/a
5	CTCF	chr6:57181131-57182585	A549	lung:	n/a	n/a
6	CTCF	chr6:57181140-57181290	HAc	cerebellar:	n/a	n/a
7	SMC3	chr6:57180994-57182747	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr6:57181123-57181959	HCT-116	colon:	n/a	n/a
9	MYBL2	chr6:57181124-57182808	HepG2	liver:	n/a	chr6:57182184-57182199 chr6:57182190-57182200
10	CTCF	chr6:57181148-57181784	HCT-116	colon:	n/a	n/a
11	CBX3	chr6:57181128-57181926	K562	blood:	n/a	n/a
12	FOXM1	chr6:57181152-57182801	GM12878	blood:	n/a	n/a
13	MYBL2	chr6:57181157-57182794	HepG2	liver:	n/a	chr6:57182184-57182199 chr6:57182190-57182200
14	RAD21	chr6:57181096-57182654	SK-N-SH	brain:	n/a	n/a
15	RAD21	chr6:57181155-57181770	A549	lung:	n/a	n/a
16	RUNX3	chr6:57181137-57182668	GM12878	blood:	n/a	n/a
17	SIN3AK20	chr6:57181131-57183058	MCF-7	breast:	n/a	n/a
18	RAD21	chr6:57181147-57182066	HCT-116	colon:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:56769038..56769893-chr6:57181008..57181695,4	K562	blood:
2	chr6:56818167..56820292-chr6:57177596..57182762,4	MCF-7	breast:
3	chr6:56917795..56920630-chr6:57180705..57182325,2	K562	blood:
4	chr6:56818015..56821855-chr6:57180367..57183028,4	K562	blood:
5	chr6:57084710..57087719-chr6:57179458..57182091,4	MCF-7	breast:
6	chr6:57054645..57055602-chr6:57180976..57181857,8	MCF-7	breast:
7	chr6:57132738..57133304-chr6:57181110..57181877,2	MCF-7	breast:
8	chr6:57036906..57039086-chr6:57181130..57183954,3	K562	blood:
9	chr6:57054194..57055111-chr6:57181143..57181875,2	K562	blood:
10	chr6:57177396..57179187-chr6:57179972..57181489,2	K562	blood:
11	chr6:57085596..57088404-chr6:57180850..57182470,2	MCF-7	breast:
12	chr6:56767444..56768237-chr6:57180983..57181496,2	K562	blood:

No data

Variant related genes	Relation type
PRIM2	TF binding region
ENSG00000151917	Chromatin interaction
ENSG00000151914	Chromatin interaction
ENSG00000112208	Chromatin interaction
ENSG00000226803	Chromatin interaction
ENSG00000112210	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1019210	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10733187	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11962881	0.80[AMR][1000 genomes]
rs1741916	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4712144	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4715654	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6459191	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7771738	0.97[ASN][1000 genomes]
rs9296865	0.83[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	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57176800-57181200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:57177000-57181200	Enhancers	NHDF-Ad	bronchial
3	chr6:57178600-57181200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:57178600-57181200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:57178600-57181200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:57178600-57181200	Enhancers	HSMM	muscle
7	chr6:57178600-57181200	Enhancers	Osteobl	bone
8	chr6:57178600-57181600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:57178800-57181200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:57178800-57181200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:57178800-57181200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:57178800-57181200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:57178800-57181200	Weak transcription	Stomach Mucosa	stomach
14	chr6:57178800-57181200	Weak transcription	K562	blood
15	chr6:57178800-57181400	Weak transcription	Fetal Intestine Small	intestine
16	chr6:57178800-57181400	Weak transcription	Ovary	ovary
17	chr6:57178800-57181400	Enhancers	Rectal Smooth Muscle	rectum
18	chr6:57178800-57181600	Weak transcription	Esophagus	oesophagus
19	chr6:57179000-57181200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:57179000-57181200	Weak transcription	Fetal Kidney	kidney
21	chr6:57179000-57181200	Weak transcription	Fetal Lung	lung
22	chr6:57179000-57181200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:57179200-57181400	Weak transcription	Colonic Mucosa	Colon
24	chr6:57179200-57181400	Enhancers	Colon Smooth Muscle	Colon
25	chr6:57179200-57181600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:57179400-57181200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:57179400-57181200	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:57179400-57181600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:57179600-57181200	Weak transcription	Hela-S3	cervix
30	chr6:57179800-57181200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:57179800-57181200	Weak transcription	A549	lung
32	chr6:57179800-57181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:57179800-57181400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:57179800-57181400	Weak transcription	Aorta	Aorta
35	chr6:57180000-57181400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:57180200-57181200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:57180200-57181200	Weak transcription	NH-A	brain
38	chr6:57180200-57181200	Weak transcription	NHEK	skin
39	chr6:57180200-57181200	Weak transcription	NHLF	lung
40	chr6:57180600-57181200	Weak transcription	HSMMtube	muscle
41	chr6:57180800-57181200	Enhancers	HMEC	breast
42	chr6:57180800-57181400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:57181000-57181200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:57181000-57181200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr6:57181000-57181200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:57181000-57181200	Enhancers	Stomach Smooth Muscle	stomach
47	chr6:57181000-57181200	Enhancers	Dnd41	blood
48	chr6:57181000-57181200	Active TSS	HepG2	liver
49	chr6:57181000-57181400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:57181000-57181400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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