Variant report

Variant	rs12682175
Chromosome Location	chr8:9479161-9479162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9478144..9480144-chr8:9497689..9499942,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10092751	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10094989	0.91[CEU][hapmap];0.80[YRI][hapmap];0.81[EUR][1000 genomes]
rs10102170	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs10104032	0.81[CEU][hapmap]
rs10106040	0.81[CEU][hapmap]
rs10109026	0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs10111376	0.80[CEU][hapmap];0.86[YRI][hapmap]
rs11249934	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11778555	0.81[EUR][1000 genomes]
rs11782886	0.81[EUR][1000 genomes]
rs11785458	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11785923	0.81[EUR][1000 genomes]
rs12114661	0.81[EUR][1000 genomes]
rs12155819	0.95[CEU][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs12542457	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12542912	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs12545250	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12547642	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12677507	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12679956	0.81[EUR][1000 genomes]
rs13263409	0.81[YRI][hapmap]
rs13264850	0.82[EUR][1000 genomes]
rs13270518	0.84[YRI][hapmap]
rs13272424	0.82[EUR][1000 genomes]
rs13276086	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs1394	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs33994795	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35316422	0.82[EUR][1000 genomes]
rs4075359	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4128198	0.87[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4129360	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs4422774	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4554469	0.89[EUR][1000 genomes]
rs4612345	0.82[EUR][1000 genomes]
rs4840426	0.90[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4840437	0.82[YRI][hapmap]
rs4841196	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4841203	0.81[EUR][1000 genomes]
rs4841204	0.81[EUR][1000 genomes]
rs6601338	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6601340	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67711814	0.83[EUR][1000 genomes]
rs6982148	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs6990418	0.87[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6992666	0.81[EUR][1000 genomes]
rs6994574	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs7004937	0.87[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7461939	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs7462070	0.82[EUR][1000 genomes]
rs7822700	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7835002	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7846399	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9644704	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9644707	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9450600-9480200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr8:9461000-9486400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:9463000-9479800	Weak transcription	Dnd41	blood
4	chr8:9463200-9480600	Weak transcription	Primary T cells from cord blood	blood
5	chr8:9466200-9480000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:9466200-9484400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:9466400-9479800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:9466400-9483200	Weak transcription	Liver	Liver
9	chr8:9466400-9484200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:9466400-9485400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr8:9466400-9491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:9471000-9479800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:9471000-9487000	Weak transcription	HepG2	liver
14	chr8:9472400-9479800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:9472400-9483600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:9472800-9481200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:9472800-9484600	Weak transcription	Small Intestine	intestine
18	chr8:9473200-9479800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:9473200-9483800	Weak transcription	NHDF-Ad	bronchial
20	chr8:9473200-9484600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:9473200-9486000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:9473200-9489400	Weak transcription	HSMM	muscle
23	chr8:9473200-9490000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:9473200-9491000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:9473200-9491200	Weak transcription	HSMMtube	muscle
26	chr8:9473400-9490000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:9473600-9479800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:9473600-9480600	Weak transcription	Primary B cells from cord blood	blood
29	chr8:9474000-9484400	Weak transcription	Ovary	ovary
30	chr8:9474200-9509000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:9474600-9480200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:9474600-9484200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:9474600-9484400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:9474600-9485400	Weak transcription	Fetal Brain Female	brain
35	chr8:9474800-9480000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:9474800-9480200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:9475200-9494400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:9475400-9484400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:9476000-9479800	Weak transcription	GM12878-XiMat	blood
40	chr8:9476000-9480000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:9476800-9479200	Weak transcription	Right Ventricle	heart
42	chr8:9477200-9479800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:9477800-9479400	Enhancers	Brain Substantia Nigra	brain
44	chr8:9478000-9479200	Enhancers	Psoas Muscle	Psoas
45	chr8:9478200-9480000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr8:9478200-9484000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:9478400-9484200	Weak transcription	Brain Anterior Caudate	brain
48	chr8:9478600-9479200	Enhancers	Brain Angular Gyrus	brain
49	chr8:9479000-9479200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr8:9479000-9482200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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