Variant report

Variant	rs11785482
Chromosome Location	chr8:125660539-125660540
allele	C/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125660023..125660895-chr8:125965641..125966178,2	MCF-7	breast:
2	chr8:125654543..125656464-chr8:125660143..125662820,2	MCF-7	breast:
3	chr8:125658235..125661140-chr8:125662893..125664695,2	K562	blood:
4	chr8:125658978..125663524-chr8:125664698..125669211,7	MCF-7	breast:
5	chr8:125605296..125605889-chr8:125659766..125660575,2	MCF-7	breast:
6	chr8:125654604..125657235-chr8:125659497..125661452,3	K562	blood:
7	chr8:125604840..125605996-chr8:125659534..125660716,13	MCF-7	breast:
8	chr8:125659876..125664799-chr8:125825896..125829544,9	K562	blood:
9	chr8:125604891..125605818-chr8:125659721..125660571,4	K562	blood:
10	chr8:125628662..125631478-chr8:125658483..125661336,2	MCF-7	breast:
11	chr8:125649100..125650648-chr8:125660221..125663028,2	K562	blood:
12	chr8:125550141..125552215-chr8:125659914..125663008,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11775349	0.80[ASN][1000 genomes]
rs11780949	0.85[JPT][hapmap]
rs11783312	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4007936	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4510845	0.85[JPT][hapmap]
rs4871527	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57174114	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59676492	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62530691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62530692	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6992199	0.85[JPT][hapmap]
rs6997870	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7017138	0.85[JPT][hapmap]
rs73343952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827042	0.85[JPT][hapmap]
rs7843950	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125641200-125664200	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:125643800-125666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:125645600-125661800	Enhancers	Fetal Thymus	thymus
4	chr8:125649800-125662800	Weak transcription	Pancreas	Pancrea
5	chr8:125650000-125665200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:125650000-125665200	Weak transcription	Fetal Intestine Small	intestine
7	chr8:125650000-125666800	Weak transcription	Esophagus	oesophagus
8	chr8:125650800-125660600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:125651400-125663400	Weak transcription	Placenta	Placenta
10	chr8:125653800-125661200	Weak transcription	Brain Substantia Nigra	brain
11	chr8:125654000-125661000	Weak transcription	Psoas Muscle	Psoas
12	chr8:125654000-125666800	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:125655000-125661000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:125655000-125666800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:125655000-125672200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:125655200-125661400	Weak transcription	Right Atrium	heart
17	chr8:125655200-125666400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:125655200-125667400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:125655200-125667400	Weak transcription	NHDF-Ad	bronchial
20	chr8:125655400-125661600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:125655600-125663000	Weak transcription	Stomach Mucosa	stomach
22	chr8:125655800-125661400	Weak transcription	Lung	lung
23	chr8:125656400-125661800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:125656600-125661400	Weak transcription	Adipose Nuclei	Adipose
25	chr8:125656800-125660600	Enhancers	Primary B cells from cord blood	blood
26	chr8:125656800-125666200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:125656800-125666200	Weak transcription	HMEC	breast
28	chr8:125657000-125660600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:125657000-125661000	Weak transcription	HUVEC	blood vessel
30	chr8:125657000-125661600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:125657000-125661600	Weak transcription	Fetal Brain Female	brain
32	chr8:125657000-125667400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:125657000-125667600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:125657400-125661800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:125657400-125666000	Weak transcription	HepG2	liver
36	chr8:125657600-125661200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:125657800-125661800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr8:125658000-125662800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:125658200-125661600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr8:125658400-125661600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:125658600-125663600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:125658600-125667600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:125658800-125662800	Weak transcription	Primary T cells from cord blood	blood
44	chr8:125659000-125661000	Weak transcription	Fetal Heart	heart
45	chr8:125659000-125662600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:125659000-125665000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:125659200-125661600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:125659400-125660800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr8:125659600-125662800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:125659800-125660600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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