Variant report

Variant	rs4735570
Chromosome Location	chr8:99680485-99680486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99679404..99682234-chr8:99684167..99686390,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10447977	0.89[TSI][hapmap];0.84[AMR][1000 genomes]
rs10755896	0.84[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.96[LWK][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10755897	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10955186	1.00[ASW][hapmap];0.96[LWK][hapmap];0.83[TSI][hapmap];0.94[YRI][hapmap]
rs10955187	1.00[ASW][hapmap];0.96[LWK][hapmap];0.83[TSI][hapmap];0.94[YRI][hapmap]
rs10955188	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10955189	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10955190	0.91[CHB][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11774463	0.84[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11778767	0.82[TSI][hapmap]
rs11780292	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780369	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785245	0.86[JPT][hapmap]
rs12114834	0.82[TSI][hapmap]
rs12541317	0.86[YRI][hapmap]
rs12542069	1.00[ASW][hapmap];0.85[CEU][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12542649	0.82[ASN][1000 genomes]
rs12542758	0.81[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs12547297	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12549803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550012	0.85[CHD][hapmap]
rs12550783	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12675964	0.85[CHD][hapmap]
rs12677183	1.00[ASW][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.93[LWK][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap];0.82[ASN][1000 genomes]
rs12679268	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12679734	0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12680195	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12680490	0.90[EUR][1000 genomes]
rs12680602	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13257475	0.87[CHB][hapmap]
rs13258214	0.81[EUR][1000 genomes]
rs13269932	0.91[CHB][hapmap];0.88[CHD][hapmap];0.96[LWK][hapmap];0.84[TSI][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13271844	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13275372	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13275915	0.91[CHB][hapmap];0.88[CHD][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13279438	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1476181	0.80[AMR][1000 genomes]
rs16897076	0.86[CHB][hapmap]
rs1961744	0.81[AMR][1000 genomes]
rs2442012	0.85[AMR][1000 genomes]
rs2442014	0.85[AMR][1000 genomes]
rs2515214	0.88[TSI][hapmap];0.81[AMR][1000 genomes]
rs2515216	0.81[ASW][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap]
rs2922073	0.81[AMR][1000 genomes]
rs2922074	0.81[AMR][1000 genomes]
rs2922076	0.81[AMR][1000 genomes]
rs2922078	0.85[TSI][hapmap]
rs2922082	0.85[TSI][hapmap]
rs34114299	0.84[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34281206	0.84[AMR][1000 genomes]
rs34366206	0.87[TSI][hapmap]
rs34477118	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34855977	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35447893	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35536167	0.84[AMR][1000 genomes]
rs35798019	0.85[TSI][hapmap]
rs35915594	0.80[AMR][1000 genomes]
rs4131873	0.91[CHB][hapmap];0.88[CHD][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4255105	0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4279561	0.91[CHB][hapmap];0.86[CHD][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4304299	0.85[AMR][1000 genomes]
rs4413739	0.81[YRI][hapmap];0.84[AMR][1000 genomes]
rs4440607	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4509292	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4517094	0.91[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4541872	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4549741	0.91[CHB][hapmap];0.86[CHD][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4562286	0.83[ASW][hapmap];0.88[TSI][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes]
rs4612309	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4734410	0.92[ASW][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.96[LWK][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735568	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4735569	1.00[CEU][hapmap];0.96[CHB][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735571	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4735574	0.85[CHD][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57034072	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62532565	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62532577	0.82[AMR][1000 genomes]
rs62532587	0.81[AMR][1000 genomes]
rs62535381	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62535382	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62535383	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62535404	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62535408	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62535410	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62535412	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6651182	0.84[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.92[LWK][hapmap];0.89[TSI][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6988087	0.81[TSI][hapmap]
rs6992925	0.91[CHB][hapmap];0.88[CHD][hapmap];0.84[TSI][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7016626	0.83[LWK][hapmap];0.94[YRI][hapmap]
rs7818010	0.94[YRI][hapmap];0.81[EUR][1000 genomes]
rs7845271	0.81[TSI][hapmap]
rs9656842	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.92[LWK][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][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	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99636200-99682400	Weak transcription	Fetal Stomach	stomach
2	chr8:99652600-99680600	Weak transcription	NHEK	skin
3	chr8:99663400-99682800	Weak transcription	Placenta	Placenta
4	chr8:99668000-99683000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:99668800-99681800	Weak transcription	Ovary	ovary
6	chr8:99671000-99681800	Weak transcription	Liver	Liver
7	chr8:99671000-99682200	Weak transcription	Fetal Intestine Small	intestine
8	chr8:99671400-99682000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:99671400-99682800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:99671600-99682000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:99671800-99682200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:99672200-99682000	Weak transcription	Fetal Lung	lung
13	chr8:99672200-99682600	Weak transcription	NHLF	lung
14	chr8:99673200-99682800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:99673800-99686400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:99674400-99682800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr8:99674600-99682800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:99675000-99681800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:99675000-99682600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:99676000-99682800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:99676200-99738200	Weak transcription	Fetal Kidney	kidney
22	chr8:99676400-99700000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:99676600-99682400	Weak transcription	Aorta	Aorta
24	chr8:99676600-99682800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:99677000-99682000	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:99677000-99683000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:99677200-99682400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:99677800-99682200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:99677800-99682400	Weak transcription	Lung	lung
30	chr8:99677800-99685600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:99679400-99682800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:99679400-99683000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:99679600-99681000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:99679800-99680800	Enhancers	A549	lung
35	chr8:99679800-99680800	Enhancers	HSMMtube	muscle
36	chr8:99680000-99680600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:99680000-99680600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:99680000-99680800	Enhancers	Fetal Heart	heart
39	chr8:99680000-99681000	Enhancers	Osteobl	bone
40	chr8:99680000-99681200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:99680000-99681200	Enhancers	NHDF-Ad	bronchial
42	chr8:99680000-99682600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:99680400-99680600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:99680400-99680600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:99680400-99680600	Enhancers	NH-A	brain
46	chr8:99680400-99681800	Weak transcription	Brain Substantia Nigra	brain
47	chr8:99680400-99682800	Weak transcription	Adipose Nuclei	Adipose
48	chr8:99680400-99683000	Weak transcription	Rectal Mucosa Donor 31	rectum

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