Variant report

Variant	rs11764968
Chromosome Location	chr7:6770777-6770778
allele	C/G
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	chr7:6770750-6771063	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:6768791-6771030	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6746161..6747688-chr7:6768318..6771249,2	MCF-7	breast:
2	chr7:6768428..6771621-chr7:6773707..6775724,3	MCF-7	breast:
3	chr7:6744871..6747873-chr7:6767656..6771321,4	K562	blood:
4	chr7:6745224..6747442-chr7:6767898..6770902,3	MCF-7	breast:

Variant related genes	Relation type
PMS2CL	TF binding region
ENSG00000164631	Chromatin interaction
ENSG00000187953	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs62439721	0.85[EUR][1000 genomes]
rs62439728	0.82[EUR][1000 genomes]
rs62439731	0.85[EUR][1000 genomes]
rs62441318	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1015646	chr7:6738483-6779270	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
4	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv1819001	chr7:6746810-6785602	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv966754	chr7:6750289-6838266	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv887442	chr7:6753286-6820508	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv887443	chr7:6753286-6832265	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv887444	chr7:6753286-6855510	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887445	chr7:6758018-6843722	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887446	chr7:6758018-6870635	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv887447	chr7:6764583-6843722	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv887448	chr7:6764583-6855510	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv887449	chr7:6764583-6870635	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	esv2757207	chr7:6764583-6977214	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	esv2759504	chr7:6764583-6977214	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6768600-6770800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr7:6768600-6770800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr7:6768600-6770800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:6768600-6770800	Active TSS	Fetal Brain Female	brain
5	chr7:6768600-6770800	Active TSS	HSMM	muscle
6	chr7:6768600-6771000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:6768600-6771000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr7:6768600-6771000	Active TSS	Rectal Smooth Muscle	rectum
9	chr7:6768800-6771000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:6769000-6770800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:6769000-6770800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:6769000-6770800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr7:6769000-6771000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:6769200-6771000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:6769200-6771000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:6769200-6771000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:6769200-6771200	Active TSS	A549	lung
18	chr7:6769400-6770800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:6769400-6770800	Active TSS	GM12878-XiMat	blood
20	chr7:6769400-6770800	Active TSS	HSMMtube	muscle
21	chr7:6769400-6770800	Active TSS	NHDF-Ad	bronchial
22	chr7:6769400-6771000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:6769400-6771400	Transcr. at gene 5' and 3'	Dnd41	blood
24	chr7:6769800-6771000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr7:6769800-6771000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:6770000-6770800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:6770000-6771200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:6770000-6783400	Weak transcription	Aorta	Aorta
29	chr7:6770200-6770800	Enhancers	Fetal Brain Male	brain
30	chr7:6770200-6770800	Weak transcription	Stomach Mucosa	stomach
31	chr7:6770200-6770800	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr7:6770200-6771000	Enhancers	Brain Substantia Nigra	brain
33	chr7:6770200-6771200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:6770200-6771200	Active TSS	HepG2	liver
35	chr7:6770200-6771400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr7:6770200-6772000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:6770200-6775600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:6770200-6779000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr7:6770200-6779200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:6770200-6782600	Weak transcription	Small Intestine	intestine
41	chr7:6770400-6770800	Enhancers	Primary T cells from cord blood	blood
42	chr7:6770400-6770800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr7:6770400-6770800	Enhancers	Brain Cingulate Gyrus	brain
44	chr7:6770400-6770800	Flanking Active TSS	NH-A	brain
45	chr7:6770400-6771000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr7:6770400-6771000	Enhancers	Primary B cells from cord blood	blood
47	chr7:6770400-6771000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:6770400-6771000	Enhancers	Liver	Liver
49	chr7:6770400-6771000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr7:6770400-6771000	Enhancers	Fetal Muscle Trunk	muscle

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