Variant report

Variant	rs7819510
Chromosome Location	chr8:125665073-125665074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125664797..125667579-chr8:125686939..125689871,2	K562	blood:
2	chr8:125650533..125653150-chr8:125663806..125665478,2	MCF-7	breast:
3	chr8:125662816..125665180-chr8:125675490..125677732,2	K562	blood:
4	chr8:125663736..125665496-chr8:125671253..125674701,3	MCF-7	breast:
5	chr8:125663706..125665321-chr8:125671326..125673228,2	K562	blood:
6	chr8:125658978..125663524-chr8:125664698..125669211,7	MCF-7	breast:
7	chr8:125663277..125665200-chr8:125679495..125682417,2	K562	blood:
8	chr8:125661234..125665296-chr8:125825896..125829074,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10094360	0.82[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10956192	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956193	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4311642	0.83[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6470257	0.86[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6981365	0.81[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7844234	0.88[CEU][hapmap];0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125643800-125666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:125650000-125665200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:125650000-125665200	Weak transcription	Fetal Intestine Small	intestine
4	chr8:125650000-125666800	Weak transcription	Esophagus	oesophagus
5	chr8:125654000-125666800	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:125655000-125666800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:125655000-125672200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:125655200-125666400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:125655200-125667400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:125655200-125667400	Weak transcription	NHDF-Ad	bronchial
11	chr8:125656800-125666200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:125656800-125666200	Weak transcription	HMEC	breast
13	chr8:125657000-125667400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:125657000-125667600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:125657400-125666000	Weak transcription	HepG2	liver
16	chr8:125658600-125667600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:125661600-125667200	Weak transcription	Fetal Intestine Large	intestine
18	chr8:125661800-125666200	Weak transcription	Adipose Nuclei	Adipose
19	chr8:125662000-125666200	Weak transcription	Brain Angular Gyrus	brain
20	chr8:125662000-125666800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:125662000-125666800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:125662000-125678400	Weak transcription	Fetal Brain Female	brain
23	chr8:125662200-125666200	Weak transcription	Brain Anterior Caudate	brain
24	chr8:125662200-125666400	Weak transcription	NHEK	skin
25	chr8:125662200-125667000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:125662200-125667600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:125662200-125667800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:125662600-125668600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr8:125662800-125666800	Weak transcription	Brain Substantia Nigra	brain
30	chr8:125662800-125667400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:125663000-125666200	Weak transcription	Lung	lung
32	chr8:125663000-125666200	Weak transcription	Spleen	Spleen
33	chr8:125663000-125668600	Weak transcription	HUVEC	blood vessel
34	chr8:125663600-125665400	Enhancers	Psoas Muscle	Psoas
35	chr8:125663600-125666000	Weak transcription	Fetal Kidney	kidney
36	chr8:125663800-125667400	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:125663800-125672200	Weak transcription	Fetal Stomach	stomach
38	chr8:125664000-125666000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:125664000-125666000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:125664000-125666400	Weak transcription	Stomach Mucosa	stomach
41	chr8:125664000-125666600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:125664000-125666800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:125664000-125666800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:125664000-125667400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:125664200-125665200	Weak transcription	Liver	Liver
46	chr8:125664200-125666200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:125664200-125666200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr8:125664200-125666200	Weak transcription	Left Ventricle	heart
49	chr8:125664200-125666200	Weak transcription	Right Atrium	heart
50	chr8:125664200-125666200	Weak transcription	Right Ventricle	heart

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