Variant report

Variant	rs9690688
Chromosome Location	chr7:107720162-107720163
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107712773..107718092-chr7:107719257..107721672,4	K562	blood:
2	chr7:107719530..107722382-chr7:107729681..107732039,2	MCF-7	breast:
3	chr7:107719784..107721782-chr7:107727829..107731774,3	K562	blood:
4	chr7:107714760..107717212-chr7:107718559..107721674,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10226708	0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.86[ASN][1000 genomes]
rs10253744	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10257477	1.00[JPT][hapmap]
rs10260756	1.00[CHD][hapmap]
rs10268853	0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.86[ASN][1000 genomes]
rs10269369	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1109110	0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[ASN][1000 genomes]
rs11487091	1.00[JPT][hapmap]
rs11487092	1.00[JPT][hapmap]
rs11974677	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11974886	0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[ASN][1000 genomes]
rs11976667	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11978694	0.86[ASN][1000 genomes]
rs1614188	0.81[GIH][hapmap]
rs1616041	0.81[GIH][hapmap]
rs1627354	0.87[GIH][hapmap]
rs1636944	0.81[GIH][hapmap]
rs1636945	0.81[GIH][hapmap]
rs1636951	0.81[GIH][hapmap]
rs17154848	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17154865	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17154878	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17154911	0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[ASN][1000 genomes]
rs17154930	1.00[CHD][hapmap]
rs1732153	0.81[GIH][hapmap]
rs1732154	0.81[GIH][hapmap]
rs1732157	0.81[GIH][hapmap]
rs62468026	0.86[ASN][1000 genomes]
rs6942816	1.00[JPT][hapmap]
rs6962826	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs73725319	0.86[ASN][1000 genomes]
rs7798163	0.86[ASN][1000 genomes]
rs7798165	0.86[ASN][1000 genomes]
rs7801775	1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv1017114	chr7:107692403-107720162	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107700800-107733600	Weak transcription	Pancreas	Pancrea
2	chr7:107716600-107721000	Enhancers	Fetal Lung	lung
3	chr7:107717000-107722000	Enhancers	Fetal Stomach	stomach
4	chr7:107717600-107722000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:107718200-107721800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:107718200-107722400	Enhancers	Small Intestine	intestine
7	chr7:107718400-107720400	Enhancers	Fetal Muscle Trunk	muscle
8	chr7:107718400-107721000	Enhancers	Stomach Mucosa	stomach
9	chr7:107718400-107721200	Enhancers	Rectal Smooth Muscle	rectum
10	chr7:107718400-107722200	Enhancers	Fetal Intestine Small	intestine
11	chr7:107718600-107720200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:107718600-107721000	Enhancers	Adipose Nuclei	Adipose
13	chr7:107718600-107721200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr7:107718600-107721200	Enhancers	Fetal Muscle Leg	muscle
15	chr7:107718600-107721200	Enhancers	NHDF-Ad	bronchial
16	chr7:107718600-107721200	Enhancers	Osteobl	bone
17	chr7:107718600-107721800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:107718600-107721800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:107718600-107722000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:107718600-107722000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:107718600-107722200	Enhancers	Fetal Intestine Large	intestine
22	chr7:107718800-107720200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:107718800-107720800	Enhancers	HMEC	breast
24	chr7:107718800-107721000	Enhancers	Stomach Smooth Muscle	stomach
25	chr7:107718800-107721400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:107718800-107721400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:107719000-107720200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:107719000-107720200	Enhancers	K562	blood
29	chr7:107719000-107720800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:107719000-107721600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:107719200-107720200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr7:107719200-107720400	Enhancers	Ovary	ovary
33	chr7:107719200-107720800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:107719200-107721800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr7:107719400-107720200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:107719400-107720400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:107719400-107720400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:107719400-107720400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:107719400-107721000	Enhancers	Colon Smooth Muscle	Colon
40	chr7:107719600-107720600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:107719800-107720200	Flanking Active TSS	NHLF	lung
42	chr7:107719800-107720600	Enhancers	Fetal Kidney	kidney
43	chr7:107719800-107720800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:107719800-107720800	Enhancers	NHEK	skin
45	chr7:107719800-107721000	Enhancers	HSMM	muscle
46	chr7:107719800-107722400	Enhancers	HepG2	liver
47	chr7:107720000-107720200	Enhancers	Placenta	Placenta
48	chr7:107720000-107720200	Enhancers	Right Atrium	heart
49	chr7:107720000-107720400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:107720000-107720400	Enhancers	Aorta	Aorta

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