Variant report

Variant	rs2980880
Chromosome Location	chr8:126480972-126480973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126479603..126481844-chr8:126494659..126497363,2	K562	blood:
2	chr8:126479289..126481809-chr8:126483424..126485504,2	K562	blood:
3	chr8:126479289..126481809-chr8:126483424..126485504,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2001845	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954018	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs2954021	0.92[YRI][hapmap];0.90[AFR][1000 genomes]
rs2954025	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2954026	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954028	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954030	0.89[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2954032	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2954033	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2954038	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2980858	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980859	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980862	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980867	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980878	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs2980888	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4336630	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4351435	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871603	0.93[ASN][1000 genomes]
rs7828113	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7846466	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126476600-126483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:126477400-126485000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:126479200-126482600	Weak transcription	Fetal Brain Female	brain
4	chr8:126479400-126481000	Enhancers	Hela-S3	cervix
5	chr8:126479400-126481200	Weak transcription	Adipose Nuclei	Adipose
6	chr8:126479400-126481200	Weak transcription	Fetal Intestine Large	intestine
7	chr8:126479400-126481200	Weak transcription	Lung	lung
8	chr8:126479400-126481200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:126479400-126481400	Weak transcription	Left Ventricle	heart
10	chr8:126479400-126481400	Weak transcription	Psoas Muscle	Psoas
11	chr8:126479400-126481400	Weak transcription	Right Atrium	heart
12	chr8:126479400-126481800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:126479400-126482400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:126479400-126482400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:126479400-126482400	Weak transcription	Fetal Stomach	stomach
16	chr8:126479400-126482400	Weak transcription	Ovary	ovary
17	chr8:126479400-126482600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:126479400-126482600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:126479400-126482600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:126479400-126482600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:126479400-126483000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:126479400-126483400	Enhancers	Fetal Kidney	kidney
23	chr8:126479400-126487400	Weak transcription	Liver	Liver
24	chr8:126479400-126489200	Weak transcription	Pancreas	Pancrea
25	chr8:126479600-126481000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:126479600-126481200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:126479600-126482400	Weak transcription	Fetal Heart	heart
28	chr8:126479600-126482600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:126479600-126482600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:126479600-126482600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:126479600-126482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:126479600-126482600	Weak transcription	Right Ventricle	heart
33	chr8:126479600-126482600	Weak transcription	A549	lung
34	chr8:126479600-126482600	Weak transcription	NH-A	brain
35	chr8:126479600-126482600	Weak transcription	Osteobl	bone
36	chr8:126479600-126482800	Weak transcription	NHLF	lung
37	chr8:126479600-126483200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:126479800-126481200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:126479800-126481200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:126479800-126481200	Weak transcription	K562	blood
41	chr8:126479800-126481400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr8:126479800-126481400	Weak transcription	Fetal Lung	lung
43	chr8:126479800-126482400	Weak transcription	HUVEC	blood vessel
44	chr8:126479800-126483000	Weak transcription	NHEK	skin
45	chr8:126480000-126481400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr8:126480400-126483200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr8:126480600-126481800	Enhancers	HepG2	liver
48	chr8:126480600-126482800	Enhancers	Fetal Intestine Small	intestine
49	chr8:126480600-126483200	Enhancers	Fetal Muscle Leg	muscle
50	chr8:126480800-126481000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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