Variant report

Variant	rs57120328
Chromosome Location	chr7:152521497-152521498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs3763421	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56697870	1.00[EUR][1000 genomes]
rs57407038	0.93[ASN][1000 genomes]
rs58352850	1.00[EUR][1000 genomes]
rs58528196	1.00[ASN][1000 genomes]
rs58882315	0.93[ASN][1000 genomes]
rs60843196	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60937939	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60982321	1.00[EUR][1000 genomes]
rs61063791	1.00[EUR][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	nsv1033496	chr7:152125903-152615617	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv539208	chr7:152125903-152615617	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv1027100	chr7:152294734-152935140	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv831193	chr7:152353544-152592678	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv532221	chr7:152371297-152884547	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv868873	chr7:152371297-152900113	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv532222	chr7:152504090-153450290	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv970617	chr7:152517945-152544433	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152488800-152545600	Weak transcription	Primary T cells from cord blood	blood
2	chr7:152489800-152568800	Weak transcription	Hela-S3	cervix
3	chr7:152497600-152549200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:152498400-152528200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr7:152498400-152556000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:152498400-152559200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr7:152498600-152526800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:152498800-152539600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:152499200-152546800	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:152500600-152556000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr7:152501400-152550400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:152502000-152539200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:152504000-152555000	Weak transcription	K562	blood
14	chr7:152508400-152549200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:152509200-152551200	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:152510200-152534000	Weak transcription	Fetal Thymus	thymus
17	chr7:152510200-152569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:152511200-152528000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:152511600-152522800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:152511600-152526600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:152513400-152549200	Weak transcription	Placenta	Placenta
22	chr7:152513400-152550400	Weak transcription	Esophagus	oesophagus
23	chr7:152513600-152546000	Weak transcription	Spleen	Spleen
24	chr7:152514400-152549400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:152514400-152554800	Weak transcription	Osteobl	bone
26	chr7:152514800-152555000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:152515600-152521800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:152516400-152522800	Weak transcription	HMEC	breast
29	chr7:152516400-152525400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:152516800-152547200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:152518000-152522800	Weak transcription	Aorta	Aorta
32	chr7:152518000-152526800	Weak transcription	Brain Anterior Caudate	brain
33	chr7:152518000-152546000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:152518000-152546000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:152518000-152548200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:152518000-152548400	Weak transcription	Pancreas	Pancrea
37	chr7:152518000-152548800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:152518000-152550400	Weak transcription	Right Ventricle	heart
39	chr7:152518000-152558800	Weak transcription	Dnd41	blood
40	chr7:152518200-152529000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:152518200-152545800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:152518200-152546000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:152518200-152548800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:152518400-152546600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:152518400-152550400	Weak transcription	Liver	Liver
46	chr7:152518600-152551400	Weak transcription	HSMMtube	muscle
47	chr7:152518800-152542400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:152518800-152548400	Weak transcription	Left Ventricle	heart
49	chr7:152519000-152522800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:152519000-152539600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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