Variant report

Variant	rs35915594
Chromosome Location	chr8:99777300-99777301
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10447977	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10955190	0.80[AMR][1000 genomes]
rs11774463	0.85[AMR][1000 genomes]
rs11778767	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11780292	0.83[AMR][1000 genomes]
rs11780369	0.83[AMR][1000 genomes]
rs11780500	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12114834	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12541317	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12547297	0.87[AMR][1000 genomes]
rs12549803	0.83[AMR][1000 genomes]
rs12679734	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12680195	0.87[AMR][1000 genomes]
rs1447245	0.80[AMR][1000 genomes]
rs1476181	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1961744	0.88[AMR][1000 genomes]
rs2442011	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2442012	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2442013	0.81[EUR][1000 genomes]
rs2442014	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2515214	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2922066	0.80[AMR][1000 genomes]
rs2922073	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2922074	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2922075	0.81[AMR][1000 genomes]
rs2922076	0.88[AMR][1000 genomes]
rs2922078	0.81[AMR][1000 genomes]
rs2922081	0.81[AMR][1000 genomes]
rs2922084	0.80[AMR][1000 genomes]
rs3019290	0.86[AMR][1000 genomes]
rs3019291	0.86[AMR][1000 genomes]
rs3019293	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34281206	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34366206	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35536167	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35798019	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35804297	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4131873	0.81[AMR][1000 genomes]
rs4255105	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4304299	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4413739	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4562286	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4735570	0.80[AMR][1000 genomes]
rs57034072	0.87[AMR][1000 genomes]
rs58321500	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62532577	0.85[AMR][1000 genomes]
rs62532587	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs62535408	0.82[AMR][1000 genomes]
rs62535410	0.85[AMR][1000 genomes]
rs62535412	0.87[AMR][1000 genomes]
rs7838239	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1025685	chr8:99706280-99826236	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv539691	chr8:99706280-99826236	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99741600-99794200	Weak transcription	Pancreas	Pancrea
2	chr8:99746600-99789400	Weak transcription	Psoas Muscle	Psoas
3	chr8:99754200-99777600	Weak transcription	Left Ventricle	heart
4	chr8:99757400-99777600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:99757400-99777800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:99757400-99777800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:99757400-99778600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:99758600-99794200	Weak transcription	Lung	lung
9	chr8:99759200-99777600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:99759200-99777800	Weak transcription	Aorta	Aorta
11	chr8:99759200-99778200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:99759200-99778800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:99759200-99781600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:99759200-99794400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:99759400-99778200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:99759400-99784400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:99759800-99793400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:99763800-99777600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:99763800-99794200	Weak transcription	NHLF	lung
20	chr8:99766000-99793200	Weak transcription	Primary T cells from cord blood	blood
21	chr8:99766800-99787600	Weak transcription	GM12878-XiMat	blood
22	chr8:99768000-99780200	Weak transcription	Brain Anterior Caudate	brain
23	chr8:99769400-99782400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:99769400-99782600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:99769400-99787600	Weak transcription	Ovary	ovary
26	chr8:99770200-99780600	Weak transcription	HepG2	liver
27	chr8:99770600-99778200	Weak transcription	Fetal Intestine Small	intestine
28	chr8:99771400-99777600	Weak transcription	Right Ventricle	heart
29	chr8:99772800-99781000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:99773000-99777600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:99773000-99778000	Weak transcription	NH-A	brain
32	chr8:99773000-99793000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:99773200-99777600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr8:99773200-99791400	Weak transcription	A549	lung
35	chr8:99774200-99777800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:99774600-99793000	Weak transcription	Osteobl	bone
37	chr8:99774800-99779600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:99775200-99780000	Weak transcription	K562	blood
39	chr8:99775200-99793000	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:99775400-99777800	Weak transcription	Fetal Stomach	stomach
41	chr8:99775400-99792800	Weak transcription	Primary B cells from cord blood	blood
42	chr8:99775600-99788000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:99775600-99796200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:99775800-99777800	Weak transcription	Brain Substantia Nigra	brain
45	chr8:99776000-99778400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:99776000-99779000	Strong transcription	Liver	Liver
47	chr8:99776200-99778600	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:99776200-99780400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:99776400-99779000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:99776400-99779200	Strong transcription	Placenta	Placenta

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