Variant report

Variant	rs2970497
Chromosome Location	chr7:101511133-101511134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101509122..101511427-chr7:101544764..101546984,2	K562	blood:
2	chr7:101459336..101463472-chr7:101510229..101514118,3	K562	blood:
3	chr7:101497978..101502748-chr7:101507506..101511659,5	K562	blood:
4	chr7:101508293..101510760-chr7:101510780..101514938,6	K562	blood:
5	chr7:101500573..101502612-chr7:101510489..101512121,2	K562	blood:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10224064	0.88[ASN][1000 genomes]
rs10229003	0.85[ASN][1000 genomes]
rs10245008	0.85[ASN][1000 genomes]
rs10266326	0.85[ASN][1000 genomes]
rs11768899	0.83[ASN][1000 genomes]
rs4729755	0.88[ASN][1000 genomes]
rs6979596	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101500400-101513400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:101500600-101511800	Weak transcription	Esophagus	oesophagus
3	chr7:101500600-101513200	Weak transcription	Aorta	Aorta
4	chr7:101500800-101511400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:101501000-101511400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:101501000-101511400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:101501000-101511800	Weak transcription	Colonic Mucosa	Colon
8	chr7:101501000-101511800	Weak transcription	NHLF	lung
9	chr7:101501000-101513400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:101501000-101513400	Weak transcription	Osteobl	bone
11	chr7:101501000-101517600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:101501000-101523600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:101501000-101525000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:101501200-101511600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:101501200-101512200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:101501200-101512600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:101501800-101511600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:101502000-101513000	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:101502800-101512000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:101503000-101511400	Weak transcription	Fetal Intestine Large	intestine
21	chr7:101503000-101513000	Weak transcription	Brain Angular Gyrus	brain
22	chr7:101503000-101513200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:101503200-101513200	Weak transcription	Brain Substantia Nigra	brain
24	chr7:101503400-101517400	Weak transcription	Primary B cells from cord blood	blood
25	chr7:101504000-101511600	Weak transcription	Fetal Lung	lung
26	chr7:101504000-101513400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:101504000-101513400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:101504200-101511400	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:101504400-101513000	Weak transcription	Fetal Brain Female	brain
30	chr7:101504800-101518200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:101505200-101512000	Weak transcription	Brain Germinal Matrix	brain
32	chr7:101505800-101513200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:101506000-101511400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:101506000-101511600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr7:101506000-101511800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:101506000-101511800	Weak transcription	Stomach Mucosa	stomach
37	chr7:101506000-101512600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:101506000-101513400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:101506200-101511400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:101506200-101511400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:101506200-101513200	Weak transcription	HSMM	muscle
42	chr7:101506400-101511400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:101506400-101511400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:101506400-101511600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:101506400-101511600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:101506400-101511800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:101506600-101511400	Weak transcription	Fetal Heart	heart
48	chr7:101506600-101511600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:101506600-101512600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:101507400-101511600	Strong transcription	Fetal Intestine Small	intestine

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