Variant report

Variant	rs17158724
Chromosome Location	chr7:83821004-83821005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10238863	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10281654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158707	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158734	1.00[AFR][1000 genomes];1.00[AMR][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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83803400-83821800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:83814000-83823200	Weak transcription	Brain Substantia Nigra	brain
3	chr7:83814200-83823200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:83814400-83823800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:83816400-83823600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr7:83816800-83823600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr7:83817600-83821200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:83817600-83821200	Weak transcription	Fetal Kidney	kidney
9	chr7:83817800-83823200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:83818000-83823200	Weak transcription	HUVEC	blood vessel
11	chr7:83818200-83821200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:83818200-83821200	Weak transcription	NHEK	skin
13	chr7:83818200-83821600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:83818400-83821200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:83818400-83823600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:83818600-83821200	Weak transcription	Primary T cells from cord blood	blood
17	chr7:83818600-83821200	Weak transcription	Hela-S3	cervix
18	chr7:83818600-83821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:83818600-83823200	Weak transcription	Adipose Nuclei	Adipose
20	chr7:83818800-83821800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:83819200-83821200	Enhancers	HMEC	breast
22	chr7:83819200-83821200	Enhancers	Osteobl	bone
23	chr7:83819400-83825800	Active TSS	Stomach Smooth Muscle	stomach
24	chr7:83819400-83826000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:83819600-83821400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:83819600-83824800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:83819600-83826000	Active TSS	NHLF	lung
28	chr7:83819800-83823200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:83820000-83825800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:83820400-83821400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:83820400-83821600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:83820600-83821400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:83820600-83821600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr7:83820600-83821800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr7:83820600-83822000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:83820600-83822000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:83820600-83823800	Active TSS	Brain Anterior Caudate	brain
38	chr7:83820600-83824600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:83820600-83825600	Active TSS	Fetal Intestine Large	intestine
40	chr7:83820600-83825800	Active TSS	Fetal Stomach	stomach
41	chr7:83820600-83826000	Active TSS	Colon Smooth Muscle	Colon
42	chr7:83820600-83826000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr7:83820600-83826000	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr7:83820800-83821200	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr7:83820800-83821200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr7:83820800-83821200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:83820800-83821200	Active TSS	Fetal Brain Male	brain
48	chr7:83820800-83821200	Enhancers	Fetal Lung	lung
49	chr7:83820800-83824600	Active TSS	Fetal Brain Female	brain
50	chr7:83820800-83825000	Active TSS	HUES6 Cell Line	embryonic stem cell

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