Variant report

Variant	rs17135923
Chromosome Location	chr7:102553603-102553604
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10487279	0.88[YRI][hapmap]
rs12533076	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12535788	1.00[CEU][hapmap]
rs59552452	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73406288	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102517200-102578200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:102547200-102554800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:102548200-102558000	Weak transcription	Pancreas	Pancrea
4	chr7:102551600-102554600	Strong transcription	K562	blood
5	chr7:102552800-102556200	Active TSS	Fetal Lung	lung
6	chr7:102552800-102556800	Active TSS	Ovary	ovary
7	chr7:102553000-102553800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr7:102553000-102554400	Active TSS	Fetal Muscle Leg	muscle
9	chr7:102553000-102554400	Active TSS	Right Atrium	heart
10	chr7:102553000-102554800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:102553000-102555000	Active TSS	HSMMtube	muscle
12	chr7:102553000-102555200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:102553000-102555800	Active TSS	Fetal Stomach	stomach
14	chr7:102553200-102553800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:102553200-102553800	Active TSS	Brain Cingulate Gyrus	brain
16	chr7:102553200-102553800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr7:102553200-102554000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:102553200-102554000	Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr7:102553200-102554200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:102553200-102554400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:102553200-102554400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:102553200-102554400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:102553200-102554400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:102553200-102554400	Active TSS	Adipose Nuclei	Adipose
25	chr7:102553200-102554400	Flanking Active TSS	HUVEC	blood vessel
26	chr7:102553200-102554600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:102553200-102554600	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr7:102553200-102555200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:102553200-102555400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:102553200-102555400	Active TSS	Fetal Intestine Small	intestine
31	chr7:102553200-102555400	Active TSS	Stomach Smooth Muscle	stomach
32	chr7:102553200-102555400	Active TSS	NHLF	lung
33	chr7:102553200-102555600	Active TSS	Fetal Kidney	kidney
34	chr7:102553200-102555600	Active TSS	Fetal Muscle Trunk	muscle
35	chr7:102553200-102556000	Active TSS	HSMM	muscle
36	chr7:102553400-102553800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr7:102553400-102553800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr7:102553400-102553800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr7:102553400-102553800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr7:102553400-102553800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:102553400-102553800	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr7:102553400-102553800	Flanking Active TSS	Fetal Brain Female	brain
43	chr7:102553400-102553800	Active TSS	Rectal Smooth Muscle	rectum
44	chr7:102553400-102553800	Active TSS	Right Ventricle	heart
45	chr7:102553400-102554000	Flanking Active TSS	NHDF-Ad	bronchial
46	chr7:102553400-102554200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:102553400-102554200	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr7:102553400-102554400	Bivalent/Poised TSS	Fetal Brain Male	brain
49	chr7:102553400-102555200	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr7:102553400-102555200	Active TSS	Fetal Intestine Large	intestine

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