Variant report

Variant	rs11994513
Chromosome Location	chr8:125628486-125628487
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125627308..125630217-chr8:125638327..125642424,3	K562	blood:
2	chr8:125627353..125628937-chr8:125644773..125647709,2	K562	blood:
3	chr8:125628049..125629556-chr8:125636539..125638565,2	MCF-7	breast:
4	chr8:125627070..125629934-chr8:125632719..125634846,3	MCF-7	breast:
5	chr8:125625138..125627927-chr8:125628466..125631300,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10505448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995300	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28379655	0.87[EUR][1000 genomes]
rs3110545	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4870910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870911	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870913	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871516	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62530669	0.83[EUR][1000 genomes]
rs62530670	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984853	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs6989466	0.85[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs919544	0.87[TSI][hapmap]
rs9297695	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs9297696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9771920	0.84[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs9987267	0.94[EUR][1000 genomes]
rs9987275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125614000-125628800	Enhancers	Liver	Liver
2	chr8:125616000-125630200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:125617600-125631400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr8:125617800-125628600	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:125618000-125632800	Weak transcription	HUVEC	blood vessel
6	chr8:125618000-125640400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:125619200-125630800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:125619200-125649000	Weak transcription	Colonic Mucosa	Colon
9	chr8:125621800-125631400	Weak transcription	Esophagus	oesophagus
10	chr8:125623200-125630800	Weak transcription	Pancreas	Pancrea
11	chr8:125623200-125631600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:125623400-125630800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:125623600-125630400	Weak transcription	Gastric	stomach
14	chr8:125624200-125633800	Enhancers	Brain Hippocampus Middle	brain
15	chr8:125624600-125629000	Weak transcription	HSMMtube	muscle
16	chr8:125624800-125628800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:125624800-125631200	Enhancers	Brain Germinal Matrix	brain
18	chr8:125624800-125633000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:125625000-125628600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:125625000-125629400	Weak transcription	Fetal Brain Male	brain
21	chr8:125625200-125634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:125625400-125630600	Enhancers	Primary B cells from cord blood	blood
23	chr8:125625400-125632200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:125625800-125628600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:125626000-125630800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:125626200-125629400	Weak transcription	Psoas Muscle	Psoas
27	chr8:125626200-125629800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:125626200-125630400	Weak transcription	Osteobl	bone
29	chr8:125626400-125630600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:125626400-125630800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:125626400-125631400	Enhancers	Adipose Nuclei	Adipose
32	chr8:125626400-125631400	Weak transcription	NHEK	skin
33	chr8:125626400-125638800	Weak transcription	HMEC	breast
34	chr8:125626600-125628600	Enhancers	Spleen	Spleen
35	chr8:125626600-125630600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:125626600-125635600	Enhancers	Fetal Heart	heart
37	chr8:125627000-125629800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:125627000-125633400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr8:125627000-125633600	Enhancers	Brain Cingulate Gyrus	brain
40	chr8:125627200-125631400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr8:125627200-125631600	Enhancers	HepG2	liver
42	chr8:125627200-125632800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr8:125627200-125633000	Enhancers	Brain Angular Gyrus	brain
44	chr8:125627200-125633400	Enhancers	Brain Substantia Nigra	brain
45	chr8:125627200-125633600	Enhancers	Brain Anterior Caudate	brain
46	chr8:125627200-125633800	Enhancers	Placenta	Placenta
47	chr8:125627200-125634200	Enhancers	Fetal Muscle Leg	muscle
48	chr8:125627200-125635400	Enhancers	Fetal Thymus	thymus
49	chr8:125627200-125635400	Enhancers	Left Ventricle	heart
50	chr8:125627200-125635400	Enhancers	Skeletal Muscle Female	skeletal muscle

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