Variant report

Variant	rs11760139
Chromosome Location	chr6:33587392-33587393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:33587280-33587430	HRE	kidney:	n/a	n/a
2	CTCF	chr6:33587360-33587510	HCT-116	colon:	n/a	n/a
3	CTCF	chr6:33587260-33587410	HCPEpiC	choroid plexus:	n/a	n/a
4	SMARCC1	chr6:33586961-33588673	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr6:33587260-33587410	GM12870	blood:	n/a	n/a
6	POLR2A	chr6:33587236-33590289	HUVEC	blood vessel:	n/a	n/a
7	MAX	chr6:33587120-33587595	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr6:33587360-33587510	SAEC	small airway:	n/a	n/a
9	FOS	chr6:33587314-33587506	MCF10A-Er-Src	breast:	n/a	n/a
10	SMC3	chr6:33587033-33587411	Hela-S3	cervix:	n/a	n/a
11	TBP	chr6:33587343-33588752	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr6:33587180-33587450	NHEK	skin:	n/a	n/a
13	STAT3	chr6:33587359-33587559	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:56735246..56737826-chr6:33586590..33589099,2	MCF-7	breast:
2	chr6:33587172..33590152-chr6:34203876..34205466,2	K562	blood:
3	chr6:33550022..33555745-chr6:33586647..33590467,5	MCF-7	breast:

No data

Variant related genes	Relation type
ITPR3	TF binding region
ENSG00000204188	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11754153	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41271247	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55694657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59929559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6902606	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913427	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers 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	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS 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	34 gene(s)	inside rSNPs	diseases
4	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
5	nsv5250	chr6:33565017-33598370	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
6	esv3471778	chr6:33581874-33587572	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3502822	chr6:33582379-33587443	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv1814733	chr6:33584788-33587443	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv1822053	chr6:33584788-33587443	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	esv1822157	chr6:33584788-33587443	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33578800-33588000	Weak transcription	Gastric	stomach
2	chr6:33579400-33588000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:33580000-33587600	Weak transcription	Brain Substantia Nigra	brain
4	chr6:33581600-33588000	Weak transcription	Brain Anterior Caudate	brain
5	chr6:33582000-33587400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:33582000-33587400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:33582000-33587400	Weak transcription	NHLF	lung
8	chr6:33582200-33587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:33583800-33587800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:33584000-33587800	Enhancers	Fetal Intestine Small	intestine
11	chr6:33585200-33587600	Weak transcription	Osteobl	bone
12	chr6:33585400-33587400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:33586000-33587400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:33586000-33587600	Enhancers	HSMM	muscle
15	chr6:33586000-33588000	Enhancers	Spleen	Spleen
16	chr6:33586400-33587800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr6:33586600-33587400	Enhancers	Dnd41	blood
18	chr6:33586600-33587600	Enhancers	Fetal Lung	lung
19	chr6:33586600-33587600	Enhancers	HMEC	breast
20	chr6:33586600-33587800	Enhancers	Primary T cells from cord blood	blood
21	chr6:33586600-33587800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:33586600-33587800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr6:33586600-33587800	Enhancers	Fetal Intestine Large	intestine
24	chr6:33586600-33587800	Enhancers	Placenta	Placenta
25	chr6:33586600-33587800	Enhancers	Fetal Thymus	thymus
26	chr6:33586600-33587800	Enhancers	Right Ventricle	heart
27	chr6:33586600-33587800	Enhancers	NHEK	skin
28	chr6:33586600-33588200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:33586800-33587400	Enhancers	A549	lung
30	chr6:33586800-33587600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr6:33586800-33587600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
32	chr6:33586800-33587600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr6:33586800-33587600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr6:33586800-33587600	Enhancers	Duodenum Mucosa	Duodenum
35	chr6:33586800-33587800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:33586800-33587800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:33586800-33587800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr6:33586800-33587800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:33586800-33587800	Enhancers	Colonic Mucosa	Colon
40	chr6:33586800-33587800	Enhancers	Fetal Muscle Trunk	muscle
41	chr6:33586800-33587800	Enhancers	Lung	lung
42	chr6:33586800-33587800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr6:33586800-33587800	Enhancers	Thymus	Thymus
44	chr6:33586800-33588000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:33586800-33588000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:33586800-33588000	Enhancers	Stomach Mucosa	stomach
47	chr6:33586800-33588600	Flanking Bivalent TSS/Enh	HepG2	liver
48	chr6:33587000-33587600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
49	chr6:33587000-33587600	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr6:33587000-33587600	Enhancers	Primary T helper cells fromperipheralblood	blood

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