Variant report

Variant	rs10095243
Chromosome Location	chr8:61915918-61915919
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61915782..61918089-chr8:61971663..61974178,2	K562	blood:
2	chr8:61909390..61914043-chr8:61914275..61917284,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10089780	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098608	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12335283	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261682	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16926675	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28480198	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28625476	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35695994	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs716683	0.85[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7845108	0.87[AFR][1000 genomes]
rs9692725	0.82[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised 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	11 gene(s)	inside rSNPs	diseases
2	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv890948	chr8:61844766-61954970	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats 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
4	nsv1020323	chr8:61901412-61941384	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61909400-61916200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:61910000-61919400	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:61910400-61916800	Weak transcription	Right Atrium	heart
4	chr8:61910800-61916600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:61911200-61916800	Weak transcription	Fetal Lung	lung
6	chr8:61911400-61916400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:61911400-61916600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:61911400-61916800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:61911800-61916200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:61911800-61916400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:61911800-61916600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:61911800-61916800	Weak transcription	Liver	Liver
13	chr8:61911800-61916800	Weak transcription	Colonic Mucosa	Colon
14	chr8:61911800-61916800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:61911800-61916800	Weak transcription	Placenta	Placenta
16	chr8:61911800-61916800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:61911800-61917000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:61911800-61923600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:61912000-61916200	Weak transcription	Brain Anterior Caudate	brain
20	chr8:61912000-61916200	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:61912000-61916400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:61912000-61916600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:61912000-61916800	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:61912000-61917000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:61912400-61916400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:61912400-61916800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:61912400-61916800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:61912400-61916800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:61912400-61917000	Weak transcription	Spleen	Spleen
30	chr8:61912600-61916400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr8:61912600-61916400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:61912600-61916600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:61912600-61916600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:61912600-61916600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:61912600-61916800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:61912600-61917000	Weak transcription	Stomach Mucosa	stomach
37	chr8:61912600-61917000	Weak transcription	HMEC	breast
38	chr8:61912800-61916200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:61913000-61916600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:61913000-61916600	Weak transcription	Thymus	Thymus
41	chr8:61913000-61916600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr8:61913000-61916800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:61913200-61916400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr8:61913200-61916800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr8:61913200-61916800	Weak transcription	GM12878-XiMat	blood
46	chr8:61913600-61916800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:61914200-61917000	Enhancers	Primary B cells from cord blood	blood
48	chr8:61914400-61916400	Weak transcription	Brain Germinal Matrix	brain
49	chr8:61914400-61917200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:61914600-61916000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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