Variant report

Variant	rs60244300
Chromosome Location	chr7:124502017-124502018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs57891354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv889134	chr7:124462081-124552802	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv889135	chr7:124462081-124584834	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1792357	chr7:124470044-124506088	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv464707	chr7:124486980-124572288	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv608341	chr7:124486980-124572288	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv889136	chr7:124492038-124552802	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124461400-124530800	Weak transcription	NHDF-Ad	bronchial
2	chr7:124462200-124510200	Weak transcription	Brain Angular Gyrus	brain
3	chr7:124462200-124568200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:124462600-124504000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:124464000-124506400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:124464000-124510400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:124464200-124519400	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:124464400-124508800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:124464600-124530600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:124466400-124540800	Weak transcription	Right Ventricle	heart
11	chr7:124466400-124562200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:124466600-124563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr7:124466800-124540800	Weak transcription	Gastric	stomach
14	chr7:124467000-124508200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:124467600-124530600	Weak transcription	NH-A	brain
16	chr7:124467800-124510600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:124474200-124509600	Weak transcription	HMEC	breast
18	chr7:124475400-124506000	Weak transcription	Fetal Kidney	kidney
19	chr7:124475400-124506000	Weak transcription	Fetal Lung	lung
20	chr7:124475400-124511400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:124477000-124530800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr7:124482400-124508200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:124482400-124508600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:124484200-124554400	Weak transcription	HUVEC	blood vessel
25	chr7:124486800-124504800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:124487000-124504200	Weak transcription	Brain Substantia Nigra	brain
27	chr7:124487200-124504400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:124487200-124534800	Weak transcription	Fetal Heart	heart
29	chr7:124488000-124506000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:124488000-124513200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr7:124488200-124506000	Weak transcription	HSMM	muscle
32	chr7:124488400-124531200	Weak transcription	Osteobl	bone
33	chr7:124488600-124506000	Weak transcription	K562	blood
34	chr7:124488600-124508200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:124488800-124502800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:124489200-124507600	Weak transcription	NHEK	skin
37	chr7:124489800-124503600	Weak transcription	Placenta	Placenta
38	chr7:124489800-124504600	Weak transcription	Esophagus	oesophagus
39	chr7:124490800-124540600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:124491400-124506200	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:124491400-124506200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:124491600-124506000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:124491600-124508800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:124491800-124502400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:124491800-124502400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:124491800-124511200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr7:124492000-124506000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:124492200-124502200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:124493000-124514400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:124498000-124506200	Weak transcription	Fetal Muscle Trunk	muscle

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