Variant report

Variant	rs4735569
Chromosome Location	chr8:99651224-99651225
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99618677..99620459-chr8:99649251..99652743,3	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10096329	0.81[JPT][hapmap]
rs10447977	0.82[CHB][hapmap]
rs10755896	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10755897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955178	0.82[JPT][hapmap]
rs10955186	0.82[JPT][hapmap]
rs10955187	0.82[JPT][hapmap]
rs10955188	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10955189	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10955190	0.96[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11774463	0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11778767	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11780292	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11780369	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11780500	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12541317	0.89[YRI][hapmap]
rs12542069	0.85[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12542649	0.89[ASN][1000 genomes]
rs12542758	0.81[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12547297	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12549803	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12550012	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs12550783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12675964	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12677183	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12679268	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12679734	0.82[CHB][hapmap];0.81[AMR][1000 genomes]
rs12680195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12680490	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12680602	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13257475	0.91[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs13258214	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13269932	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13271844	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13275372	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13275915	0.95[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs16897076	0.91[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2442015	0.80[YRI][hapmap]
rs2515216	1.00[YRI][hapmap]
rs34114299	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34366206	0.82[CHB][hapmap]
rs34477118	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34855977	0.92[ASN][1000 genomes]
rs35447893	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35798019	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4131873	0.95[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4255105	0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4279561	0.95[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs4413739	0.84[YRI][hapmap]
rs4509292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4517094	0.96[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4541872	0.85[ASN][1000 genomes]
rs4549741	0.95[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs4562286	0.94[YRI][hapmap]
rs4612309	0.90[ASN][1000 genomes]
rs4734410	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735568	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4735570	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	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735574	0.86[CHB][hapmap]
rs57034072	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62532565	0.85[ASN][1000 genomes]
rs62535381	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62535382	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62535383	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62535404	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62535408	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62535410	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62535412	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6651182	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6988087	0.82[JPT][hapmap]
rs6992925	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72666669	0.87[ASN][1000 genomes]
rs7818010	0.83[CHB][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7818828	0.95[JPT][hapmap]
rs7838239	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs9656842	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][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	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99621800-99651400	Weak transcription	Left Ventricle	heart
2	chr8:99621800-99663000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:99630000-99662600	Weak transcription	Pancreas	Pancrea
4	chr8:99632200-99651400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:99633400-99652000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:99634400-99658000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:99635400-99651600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:99636200-99654000	Weak transcription	Lung	lung
9	chr8:99636200-99662600	Weak transcription	Fetal Intestine Small	intestine
10	chr8:99636200-99682400	Weak transcription	Fetal Stomach	stomach
11	chr8:99636400-99659200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:99636600-99651800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:99636600-99662800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:99637400-99656800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:99638200-99652200	Weak transcription	Psoas Muscle	Psoas
16	chr8:99638200-99655600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:99638200-99671200	Weak transcription	GM12878-XiMat	blood
18	chr8:99641000-99651600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:99641200-99656200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:99643800-99659200	Weak transcription	HSMMtube	muscle
21	chr8:99644200-99659000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:99646000-99651400	Weak transcription	NHEK	skin
23	chr8:99646000-99652000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:99646000-99652400	Weak transcription	Adipose Nuclei	Adipose
25	chr8:99646400-99659200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:99646800-99651400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:99647800-99662600	Weak transcription	Fetal Lung	lung

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