Variant report

Variant	rs10953382
Chromosome Location	chr7:102771972-102771973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102761173..102767210-chr7:102768594..102775189,9	K562	blood:
2	chr7:102770229..102775157-chr7:102775428..102783246,10	K562	blood:
3	chr7:102767416..102772548-chr7:102787742..102792429,7	K562	blood:

Variant related genes	Relation type
ENSG00000161048	Chromatin interaction
ENSG00000224415	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10808120	0.80[ASN][1000 genomes]
rs10953380	0.89[ASN][1000 genomes]
rs11770319	0.96[ASN][1000 genomes]
rs12666317	0.83[ASN][1000 genomes]
rs12667116	0.83[ASN][1000 genomes]
rs13221585	0.80[ASN][1000 genomes]
rs13221979	0.93[ASN][1000 genomes]
rs13222980	0.83[ASN][1000 genomes]
rs13232194	0.90[ASN][1000 genomes]
rs1829957	0.82[ASN][1000 genomes]
rs2222539	0.80[ASN][1000 genomes]
rs2298854	0.87[ASN][1000 genomes]
rs4729866	0.81[ASN][1000 genomes]
rs4729873	0.87[ASN][1000 genomes]
rs6978630	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7780405	0.83[ASN][1000 genomes]
rs7796678	0.94[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	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102738400-102773600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:102747400-102781800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:102747600-102775200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:102747600-102789200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:102754200-102773600	Weak transcription	HSMMtube	muscle
6	chr7:102755200-102772000	Weak transcription	HMEC	breast
7	chr7:102755600-102775400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:102760600-102782000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:102760600-102782200	Weak transcription	HSMM	muscle
10	chr7:102764000-102781800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:102764200-102787000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:102767200-102786000	Weak transcription	GM12878-XiMat	blood
13	chr7:102768600-102774200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:102768800-102772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:102768800-102773400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:102768800-102773600	Weak transcription	Spleen	Spleen
17	chr7:102768800-102775200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:102768800-102775600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:102768800-102775800	Weak transcription	Gastric	stomach
20	chr7:102768800-102781800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:102768800-102782000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:102768800-102782000	Weak transcription	Pancreas	Pancrea
23	chr7:102768800-102786000	Weak transcription	Brain Germinal Matrix	brain
24	chr7:102768800-102786200	Weak transcription	Fetal Heart	heart
25	chr7:102768800-102786600	Weak transcription	Lung	lung
26	chr7:102768800-102788600	Weak transcription	Right Ventricle	heart
27	chr7:102769000-102774200	Weak transcription	NH-A	brain
28	chr7:102769000-102775200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:102769000-102775200	Weak transcription	NHDF-Ad	bronchial
30	chr7:102769000-102775400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:102769000-102775400	Weak transcription	Fetal Brain Female	brain
32	chr7:102769000-102775800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:102769000-102775800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:102769000-102781400	Weak transcription	Dnd41	blood
35	chr7:102769000-102782000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:102769000-102786000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:102769000-102786000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:102769000-102786000	Weak transcription	Fetal Brain Male	brain
39	chr7:102769000-102786600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:102769000-102786800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:102769000-102787000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:102769200-102772600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr7:102769200-102773000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr7:102769200-102773600	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:102769200-102773800	Weak transcription	Left Ventricle	heart
46	chr7:102769200-102775200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:102769200-102775200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:102769200-102775400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:102769200-102775400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:102769200-102775600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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