Variant report

Variant	rs10957160
Chromosome Location	chr8:61712615-61712616
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61712180..61713990-chr8:61715650..61717311,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10088263	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1038353	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775560	0.90[ASN][1000 genomes]
rs12056700	0.88[ASN][1000 genomes]
rs13255052	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13278198	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2326597	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34022185	0.88[ASN][1000 genomes]
rs34345692	0.88[ASN][1000 genomes]
rs35149496	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35254359	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35687554	0.85[ASN][1000 genomes]
rs35914442	0.88[ASN][1000 genomes]
rs6471900	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471904	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67670110	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6987611	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6988835	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989150	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994642	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7460516	0.88[ASN][1000 genomes]
rs7823926	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7833957	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7846314	0.91[ASN][1000 genomes]
rs9298041	0.84[ASN][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1019330	chr8:61697104-61744335	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61687200-61720400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:61688800-61719600	Weak transcription	NHEK	skin
3	chr8:61691200-61742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:61692200-61719400	Weak transcription	HMEC	breast
5	chr8:61695000-61743000	Weak transcription	Placenta	Placenta
6	chr8:61695200-61722600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:61696400-61736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:61700200-61716400	Weak transcription	Hela-S3	cervix
9	chr8:61703200-61713000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:61704400-61745000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:61705400-61728200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:61705600-61712800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:61705600-61720000	Weak transcription	NH-A	brain
14	chr8:61705600-61721000	Weak transcription	Fetal Intestine Large	intestine
15	chr8:61705600-61721600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:61705600-61725800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:61705600-61726600	Weak transcription	Right Ventricle	heart
18	chr8:61705600-61728000	Weak transcription	Small Intestine	intestine
19	chr8:61705600-61742400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:61705600-61742600	Weak transcription	Spleen	Spleen
21	chr8:61705600-61743000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:61705600-61743000	Weak transcription	Fetal Stomach	stomach
23	chr8:61705600-61743000	Weak transcription	Lung	lung
24	chr8:61705800-61713000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:61705800-61713000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:61705800-61717000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:61705800-61720400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:61705800-61720400	Weak transcription	K562	blood
29	chr8:61705800-61721600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:61705800-61721800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:61705800-61723400	Weak transcription	Esophagus	oesophagus
32	chr8:61705800-61733400	Weak transcription	Adipose Nuclei	Adipose
33	chr8:61705800-61735000	Weak transcription	Brain Substantia Nigra	brain
34	chr8:61705800-61742400	Weak transcription	Gastric	stomach
35	chr8:61705800-61755000	Weak transcription	Psoas Muscle	Psoas
36	chr8:61706000-61723600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:61706200-61720800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:61706600-61723200	Weak transcription	Left Ventricle	heart
39	chr8:61707200-61717400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:61708600-61712800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:61708600-61716400	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:61708600-61719400	Weak transcription	Fetal Thymus	thymus
43	chr8:61708600-61722800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:61708600-61722800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:61708600-61722800	Weak transcription	Brain Anterior Caudate	brain
46	chr8:61708800-61712800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:61708800-61720400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:61708800-61720400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:61708800-61736400	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:61708800-61739000	Weak transcription	A549	lung

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