Variant report

Variant	rs9650670
Chromosome Location	chr8:86116441-86116442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86114516..86116575-chr8:86117898..86119407,2	K562	blood:
2	chr8:86115871..86119443-chr8:86120230..86123216,3	K562	blood:
3	chr8:86110821..86112603-chr8:86114542..86116819,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133740	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2432075	0.89[ASN][1000 genomes]
rs3736038	1.00[JPT][hapmap]
rs4150892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4150899	0.93[ASN][1000 genomes]
rs4150963	1.00[ASN][1000 genomes]
rs58060795	1.00[ASN][1000 genomes]
rs73688687	1.00[ASN][1000 genomes]
rs73688696	1.00[ASN][1000 genomes]
rs73691803	0.89[ASN][1000 genomes]
rs73691805	0.93[ASN][1000 genomes]
rs7823815	1.00[JPT][hapmap]
rs7845805	1.00[JPT][hapmap]
rs9650671	0.89[ASN][1000 genomes]
rs9650672	0.93[ASN][1000 genomes]
rs9650673	0.89[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	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86090800-86127800	Weak transcription	Aorta	Aorta
2	chr8:86091000-86127800	Weak transcription	HSMMtube	muscle
3	chr8:86091000-86132000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:86091200-86125200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:86091600-86124200	Weak transcription	Primary T cells from cord blood	blood
6	chr8:86091600-86126000	Weak transcription	Hela-S3	cervix
7	chr8:86091800-86124200	Weak transcription	HMEC	breast
8	chr8:86096200-86121400	Weak transcription	Fetal Lung	lung
9	chr8:86096400-86121400	Weak transcription	A549	lung
10	chr8:86096600-86120600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:86100400-86121400	Weak transcription	Fetal Intestine Large	intestine
12	chr8:86101000-86122600	Weak transcription	Fetal Intestine Small	intestine
13	chr8:86101000-86124600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:86101000-86127800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:86101200-86127800	Weak transcription	Spleen	Spleen
16	chr8:86101200-86131000	Weak transcription	HepG2	liver
17	chr8:86102600-86121000	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:86102600-86121600	Weak transcription	Dnd41	blood
19	chr8:86102600-86125000	Weak transcription	Fetal Stomach	stomach
20	chr8:86102600-86125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:86102600-86128200	Weak transcription	Fetal Brain Male	brain
22	chr8:86103200-86118400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:86103200-86120800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:86106000-86120800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:86108200-86121400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:86110400-86121000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:86110400-86128200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:86110600-86119200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:86110600-86126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:86111000-86121000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:86111000-86121000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:86111000-86128000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:86113000-86118400	Weak transcription	NH-A	brain
34	chr8:86113000-86127800	Weak transcription	Esophagus	oesophagus
35	chr8:86113200-86123000	Weak transcription	Fetal Brain Female	brain
36	chr8:86113200-86124200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:86113200-86124400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:86113200-86124400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:86113200-86124600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:86113200-86124800	Weak transcription	Brain Anterior Caudate	brain
41	chr8:86113200-86127600	Weak transcription	Right Ventricle	heart
42	chr8:86113200-86131200	Weak transcription	Fetal Heart	heart
43	chr8:86113400-86120800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:86113400-86120800	Weak transcription	Fetal Thymus	thymus
45	chr8:86113400-86121600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:86113400-86123200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:86113400-86124000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr8:86113400-86124000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:86113400-86124000	Weak transcription	Left Ventricle	heart
50	chr8:86113400-86124200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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