Variant report

Variant	rs12234995
Chromosome Location	chr8:95758766-95758767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95753977..95755700-chr8:95756293..95758954,3	K562	blood:
2	chr8:95730431..95733098-chr8:95756619..95759119,3	MCF-7	breast:
3	chr8:95730491..95733397-chr8:95756539..95760119,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10090736	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10101523	0.87[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11987620	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11987988	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11988403	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11995317	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12543503	0.91[CEU][hapmap]
rs12547930	0.90[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs13250360	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13258377	0.84[ASN][1000 genomes]
rs13259064	0.81[ASN][1000 genomes]
rs13262255	0.91[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13269813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17646077	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17718793	0.87[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2033073	0.81[CEU][hapmap]
rs28750318	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34759911	0.82[ASN][1000 genomes]
rs4078348	0.82[GIH][hapmap]
rs4644204	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735322	0.84[ASN][1000 genomes]
rs4735324	0.90[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs6471483	0.87[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7386109	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7387701	0.91[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7826057	0.90[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7830822	0.82[GIH][hapmap]
rs7837249	0.80[AFR][1000 genomes]
rs7840896	0.91[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7844431	0.90[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95732800-95761400	Weak transcription	Spleen	Spleen
2	chr8:95732800-95780400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:95733000-95761600	Weak transcription	Aorta	Aorta
4	chr8:95733000-95784400	Weak transcription	Esophagus	oesophagus
5	chr8:95733000-95803800	Weak transcription	Psoas Muscle	Psoas
6	chr8:95733000-95805200	Weak transcription	Colonic Mucosa	Colon
7	chr8:95733200-95774600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:95733200-95805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:95733400-95783800	Weak transcription	Gastric	stomach
10	chr8:95733400-95784800	Weak transcription	Small Intestine	intestine
11	chr8:95733600-95760200	Weak transcription	Thymus	Thymus
12	chr8:95733600-95779400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:95733600-95782600	Weak transcription	Brain Substantia Nigra	brain
14	chr8:95733600-95809400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:95733800-95770400	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:95733800-95783600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:95733800-95806400	Weak transcription	Fetal Brain Male	brain
18	chr8:95734000-95761400	Weak transcription	HUVEC	blood vessel
19	chr8:95734000-95761600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:95734000-95783600	Weak transcription	Fetal Kidney	kidney
21	chr8:95734200-95784600	Weak transcription	Brain Angular Gyrus	brain
22	chr8:95735400-95787800	Weak transcription	Hela-S3	cervix
23	chr8:95737800-95777800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:95740600-95760800	Weak transcription	Right Ventricle	heart
25	chr8:95740600-95761200	Weak transcription	Pancreas	Pancrea
26	chr8:95740600-95769400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:95740800-95760800	Weak transcription	Ovary	ovary
28	chr8:95740800-95782200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:95740800-95782800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:95740800-95799000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:95741000-95768600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:95741000-95778000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:95741200-95760200	Weak transcription	K562	blood
34	chr8:95741200-95769600	Weak transcription	Brain Germinal Matrix	brain
35	chr8:95741200-95770000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:95741200-95778800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:95741200-95783600	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:95741200-95783800	Weak transcription	HMEC	breast
39	chr8:95741800-95760200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:95741800-95760200	Weak transcription	Left Ventricle	heart
41	chr8:95741800-95760800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:95744000-95790800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:95745000-95782200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:95745400-95760200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:95745400-95760200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:95745400-95769600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:95746400-95758800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:95746800-95777200	Weak transcription	Osteobl	bone
49	chr8:95747600-95768800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:95748400-95769200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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