Variant report

Variant	rs7016962
Chromosome Location	chr8:103841203-103841204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103840357..103844768-chr8:103847000..103852337,5	MCF-7	breast:
2	chr8:103839744..103841378-chr8:103866683..103868254,2	K562	blood:
3	chr8:103838838..103843529-chr8:103874630..103876913,6	K562	blood:
4	chr8:103839572..103843466-chr8:103874674..103877109,4	K562	blood:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253385	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1019975	0.86[ASN][1000 genomes]
rs12546634	0.86[ASN][1000 genomes]
rs12547200	0.86[ASN][1000 genomes]
rs13123	0.86[ASN][1000 genomes]
rs2304348	0.86[ASN][1000 genomes]
rs2304349	0.86[ASN][1000 genomes]
rs28542883	0.94[EUR][1000 genomes]
rs4734672	0.86[ASN][1000 genomes]
rs62522599	0.86[ASN][1000 genomes]
rs62522602	0.86[ASN][1000 genomes]
rs62522603	0.86[ASN][1000 genomes]
rs6999267	0.86[ASN][1000 genomes]
rs7016840	1.00[AMR][1000 genomes]
rs7821657	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7843670	0.85[AMR][1000 genomes]
rs7846320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103823000-103841400	Weak transcription	Pancreas	Pancrea
2	chr8:103823000-103855000	Weak transcription	Esophagus	oesophagus
3	chr8:103823200-103841800	Weak transcription	Aorta	Aorta
4	chr8:103823200-103844000	Weak transcription	Right Ventricle	heart
5	chr8:103823200-103853400	Weak transcription	Right Atrium	heart
6	chr8:103823400-103870600	Weak transcription	Stomach Mucosa	stomach
7	chr8:103825600-103841600	Weak transcription	Lung	lung
8	chr8:103826800-103841400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:103826800-103871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:103827800-103844800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:103833000-103858600	Strong transcription	A549	lung
12	chr8:103833400-103870800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:103833600-103848200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:103833800-103855200	Weak transcription	Small Intestine	intestine
15	chr8:103834400-103853800	Strong transcription	HSMM	muscle
16	chr8:103834600-103853800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:103834600-103856800	Strong transcription	Osteobl	bone
18	chr8:103834600-103867800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr8:103834600-103871200	Strong transcription	K562	blood
20	chr8:103835000-103856600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:103835000-103856800	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr8:103835000-103868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:103835000-103871000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:103835200-103843000	Strong transcription	NH-A	brain
25	chr8:103835200-103850600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:103835200-103856200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:103835200-103856800	Strong transcription	NHLF	lung
28	chr8:103835200-103870200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:103835200-103874200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:103835400-103856200	Strong transcription	Placenta	Placenta
31	chr8:103835400-103856600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr8:103835600-103842800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:103835600-103845200	Strong transcription	Left Ventricle	heart
34	chr8:103835600-103856600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:103835600-103856800	Strong transcription	Fetal Thymus	thymus
36	chr8:103835600-103857400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:103835600-103867800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr8:103835800-103861800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:103835800-103871000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:103836000-103856200	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr8:103836000-103867800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:103836000-103871000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:103836200-103856600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr8:103836200-103868000	Strong transcription	HMEC	breast
45	chr8:103836200-103873000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:103836400-103849000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:103836600-103842800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:103836600-103849200	Strong transcription	HSMMtube	muscle
49	chr8:103836600-103856600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr8:103836600-103856800	Strong transcription	Fetal Intestine Large	intestine

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