Variant report

Variant	rs9656664
Chromosome Location	chr7:50661972-50661973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50660290..50662037-chr7:50859563..50861676,2	K562	blood:
2	chr7:50660134..50662385-chr7:50662539..50664093,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1107743	0.80[CHB][hapmap]
rs11575282	0.80[CHB][hapmap];0.80[GIH][hapmap];0.84[ASN][1000 genomes]
rs11575286	0.80[CHB][hapmap];0.80[GIH][hapmap];0.84[ASN][1000 genomes]
rs11575313	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs11575321	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs11575322	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs11575338	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs11575349	0.82[ASN][1000 genomes]
rs11575548	0.80[CHB][hapmap]
rs1349491	0.80[CHB][hapmap];0.84[ASN][1000 genomes]
rs17634717	0.80[CHB][hapmap]
rs17634958	0.80[CHB][hapmap]
rs17635123	0.80[CHB][hapmap]
rs2100279	0.82[ASN][1000 genomes]
rs2122817	0.89[CHB][hapmap]
rs2329367	0.80[CHB][hapmap]
rs2876830	0.84[ASN][1000 genomes]
rs3735271	0.85[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3807550	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3807551	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3807553	0.80[CHB][hapmap];0.80[GIH][hapmap];0.82[ASN][1000 genomes]
rs4469405	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4947406	0.82[CHB][hapmap];0.85[CHD][hapmap]
rs4947710	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55834323	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6966169	0.85[YRI][hapmap]
rs73123220	0.82[ASN][1000 genomes]
rs73123247	0.82[ASN][1000 genomes]
rs73123249	0.82[ASN][1000 genomes]
rs73123251	0.82[ASN][1000 genomes]
rs73123254	0.82[ASN][1000 genomes]
rs73123257	0.82[ASN][1000 genomes]
rs73123261	0.82[ASN][1000 genomes]
rs73123264	0.82[ASN][1000 genomes]
rs73123266	0.82[ASN][1000 genomes]
rs73123283	0.84[ASN][1000 genomes]
rs73123285	0.84[ASN][1000 genomes]
rs73123291	0.84[ASN][1000 genomes]
rs73125208	0.86[ASN][1000 genomes]
rs73125215	0.86[ASN][1000 genomes]
rs73125225	0.86[ASN][1000 genomes]
rs73129082	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73129084	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73129088	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73129091	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73129096	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73131006	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73131008	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73131013	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73131015	0.93[ASN][1000 genomes]
rs73131078	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers 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 target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50652000-50671800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:50652400-50687400	Weak transcription	Right Atrium	heart
3	chr7:50653200-50672400	Weak transcription	NHEK	skin
4	chr7:50653400-50670600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:50654000-50680000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:50657000-50662400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:50657200-50670800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:50657200-50678000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:50657800-50670600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:50658000-50666800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:50658200-50662200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:50658200-50675800	Strong transcription	HSMMtube	muscle
13	chr7:50658200-50682000	Weak transcription	Colonic Mucosa	Colon
14	chr7:50658200-50690400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:50658400-50667800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:50658400-50670800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:50658600-50662000	Weak transcription	Psoas Muscle	Psoas
18	chr7:50658600-50668600	Strong transcription	Liver	Liver
19	chr7:50658600-50670800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:50658800-50662000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr7:50658800-50665800	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:50658800-50669200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:50658800-50669600	Weak transcription	HSMM	muscle
24	chr7:50658800-50671000	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:50658800-50673200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:50658800-50686800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:50658800-50690000	Weak transcription	Fetal Kidney	kidney
28	chr7:50659000-50663000	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:50659000-50663200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr7:50659000-50663400	Strong transcription	Fetal Stomach	stomach
31	chr7:50659000-50663600	Strong transcription	Lung	lung
32	chr7:50659000-50667400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:50659000-50667800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:50659000-50668600	Weak transcription	Brain Substantia Nigra	brain
35	chr7:50659000-50678600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:50659200-50662800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr7:50659200-50662800	Strong transcription	Spleen	Spleen
38	chr7:50659200-50664200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:50659200-50672200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr7:50659200-50677000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:50659200-50680000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:50659200-50683600	Weak transcription	Small Intestine	intestine
43	chr7:50659400-50662400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr7:50659400-50663000	Strong transcription	Placenta	Placenta
45	chr7:50659400-50663200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:50659400-50667200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:50659400-50675800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:50659600-50663000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr7:50659600-50664200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr7:50659600-50675600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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