Variant report

Variant	rs6989466
Chromosome Location	chr8:125629860-125629861
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125628662..125631478-chr8:125658483..125661336,2	MCF-7	breast:
2	chr8:125623032..125625031-chr8:125629309..125631015,2	K562	blood:
3	chr8:125627308..125630217-chr8:125638327..125642424,3	K562	blood:
4	chr8:125623069..125624735-chr8:125628903..125630679,2	K562	blood:
5	chr8:125628848..125630797-chr8:125740676..125742783,2	MCF-7	breast:
6	chr8:125627070..125629934-chr8:125632719..125634846,3	MCF-7	breast:
7	chr8:125628680..125631257-chr8:125639768..125642424,2	K562	blood:
8	chr8:125625138..125627927-chr8:125628466..125631300,2	K562	blood:
9	chr8:125629075..125631557-chr8:125633717..125635693,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction

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

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

rs_ID	r²[population]
rs10505448	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs11994513	0.85[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs11994520	0.85[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs11995300	0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs2014895	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs28379655	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4870910	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs4870911	0.85[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs4870912	0.92[EUR][1000 genomes]
rs4870913	0.85[CEU][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs4871516	0.92[EUR][1000 genomes]
rs4871517	0.85[CEU][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs62530669	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62530670	0.92[EUR][1000 genomes]
rs6984853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs752492	0.87[CEU][hapmap]
rs919544	0.88[ASW][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.89[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9297695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9297696	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs9987267	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9987275	0.85[CEU][hapmap];0.92[EUR][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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125616000-125630200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:125617600-125631400	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr8:125618000-125632800	Weak transcription	HUVEC	blood vessel
4	chr8:125618000-125640400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:125619200-125630800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:125619200-125649000	Weak transcription	Colonic Mucosa	Colon
7	chr8:125621800-125631400	Weak transcription	Esophagus	oesophagus
8	chr8:125623200-125630800	Weak transcription	Pancreas	Pancrea
9	chr8:125623200-125631600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:125623400-125630800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:125623600-125630400	Weak transcription	Gastric	stomach
12	chr8:125624200-125633800	Enhancers	Brain Hippocampus Middle	brain
13	chr8:125624800-125631200	Enhancers	Brain Germinal Matrix	brain
14	chr8:125624800-125633000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:125625200-125634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:125625400-125630600	Enhancers	Primary B cells from cord blood	blood
17	chr8:125625400-125632200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:125626000-125630800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:125626200-125630400	Weak transcription	Osteobl	bone
20	chr8:125626400-125630600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:125626400-125630800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:125626400-125631400	Enhancers	Adipose Nuclei	Adipose
23	chr8:125626400-125631400	Weak transcription	NHEK	skin
24	chr8:125626400-125638800	Weak transcription	HMEC	breast
25	chr8:125626600-125630600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:125626600-125635600	Enhancers	Fetal Heart	heart
27	chr8:125627000-125633400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr8:125627000-125633600	Enhancers	Brain Cingulate Gyrus	brain
29	chr8:125627200-125631400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr8:125627200-125631600	Enhancers	HepG2	liver
31	chr8:125627200-125632800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr8:125627200-125633000	Enhancers	Brain Angular Gyrus	brain
33	chr8:125627200-125633400	Enhancers	Brain Substantia Nigra	brain
34	chr8:125627200-125633600	Enhancers	Brain Anterior Caudate	brain
35	chr8:125627200-125633800	Enhancers	Placenta	Placenta
36	chr8:125627200-125634200	Enhancers	Fetal Muscle Leg	muscle
37	chr8:125627200-125635400	Enhancers	Fetal Thymus	thymus
38	chr8:125627200-125635400	Enhancers	Left Ventricle	heart
39	chr8:125627200-125635400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr8:125627400-125630400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:125627400-125630600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:125627600-125630600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:125627600-125631400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:125627800-125632800	Weak transcription	K562	blood
45	chr8:125627800-125633600	Weak transcription	GM12878-XiMat	blood
46	chr8:125628000-125631600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:125628200-125634600	Enhancers	Right Ventricle	heart
48	chr8:125628600-125631400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:125628600-125631400	Weak transcription	Spleen	Spleen
50	chr8:125628600-125631600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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