Variant report

Variant	rs9650617
Chromosome Location	chr8:8933663-8933664
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:8931465-8933806	HUVEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:8932505..8934408-chr8:8934754..8936644,3	MCF-7	breast:
2	chr8:8929863..8933165-chr8:8933617..8936213,3	MCF-7	breast:
3	chr8:8931416..8936474-chr8:8938271..8941320,7	K562	blood:
4	chr8:8932762..8934557-chr8:8938134..8939929,2	MCF-7	breast:
5	chr8:8931608..8933862-chr8:9004172..9006310,2	MCF-7	breast:
6	chr8:8932442..8934749-chr8:8960194..8961935,2	K562	blood:
7	chr8:8932433..8935466-chr8:8936336..8937882,3	K562	blood:
8	chr8:8923309..8925417-chr8:8931144..8934790,3	K562	blood:

No data

Variant related genes	Relation type
RNU7-55P	TF binding region
ENSG00000239078	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10093648	1.00[ASN][1000 genomes]
rs10105813	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10503389	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274593	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17646349	1.00[ASN][1000 genomes]
rs17646897	0.85[ASN][1000 genomes]
rs17703328	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17703572	1.00[ASN][1000 genomes]
rs34277204	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34443356	1.00[ASN][1000 genomes]
rs34762233	1.00[ASN][1000 genomes]
rs34968542	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35973329	1.00[ASN][1000 genomes]
rs36022127	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55686280	1.00[ASN][1000 genomes]
rs6601283	0.87[ASN][1000 genomes]
rs6983411	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6985627	0.87[ASN][1000 genomes]
rs6986226	0.87[ASN][1000 genomes]
rs6990455	0.87[ASN][1000 genomes]
rs6992247	0.87[ASN][1000 genomes]
rs6997088	0.96[AFR][1000 genomes]
rs7000799	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7007456	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7009724	0.87[ASN][1000 genomes]
rs7011476	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018100	0.87[ASN][1000 genomes]
rs9657508	0.87[EUR][1000 genomes];0.87[ASN][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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8916000-8935200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:8924000-8936200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:8924000-8937800	Weak transcription	Lung	lung
4	chr8:8924000-8939600	Weak transcription	Right Ventricle	heart
5	chr8:8928600-8934200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:8929600-8940000	Weak transcription	Aorta	Aorta
7	chr8:8930200-8940400	Enhancers	Fetal Intestine Large	intestine
8	chr8:8930800-8934200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:8930800-8935800	Enhancers	HUVEC	blood vessel
10	chr8:8930800-8936400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:8931600-8935200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:8931600-8938000	Enhancers	Placenta	Placenta
13	chr8:8931800-8940800	Enhancers	Fetal Intestine Small	intestine
14	chr8:8932000-8935400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:8932000-8937800	Enhancers	Fetal Heart	heart
16	chr8:8932600-8937200	Weak transcription	Gastric	stomach
17	chr8:8932600-8937400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:8932600-8939600	Weak transcription	Ovary	ovary
19	chr8:8932600-8951800	Weak transcription	Pancreas	Pancrea
20	chr8:8932800-8934200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:8932800-8934400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:8932800-8936200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:8932800-8939200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:8932800-8945600	Weak transcription	Thymus	Thymus
25	chr8:8933000-8933800	Enhancers	Left Ventricle	heart
26	chr8:8933000-8934000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:8933000-8934600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:8933000-8934600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:8933000-8935600	Enhancers	NHDF-Ad	bronchial
30	chr8:8933000-8936000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:8933000-8936200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr8:8933000-8936400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:8933000-8937800	Weak transcription	Liver	Liver
34	chr8:8933000-8937800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr8:8933000-8939400	Enhancers	K562	blood
36	chr8:8933200-8934200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:8933200-8934200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:8933200-8934200	Weak transcription	Adipose Nuclei	Adipose
39	chr8:8933200-8934200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr8:8933200-8934400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:8933200-8934400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:8933200-8934400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:8933200-8934600	Weak transcription	HSMM	muscle
44	chr8:8933200-8934800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:8933200-8934800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:8933200-8935000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:8933200-8935400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:8933200-8935400	Enhancers	NH-A	brain
49	chr8:8933200-8935400	Enhancers	Osteobl	bone
50	chr8:8933200-8935600	Enhancers	Skeletal Muscle Male	skeletal muscle

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