Variant report

Variant	rs12750904
Chromosome Location	chr1:94893928-94893929
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	chr1:94883602..94885258-chr1:94893153..94895561,2	K562	blood:

Variant related genes	Relation type
ENSG00000117528	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1023058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11165143	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11165150	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12080254	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12094329	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs12142995	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12404710	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1415758	0.80[ASN][1000 genomes]
rs4148045	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4148046	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4148051	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4424519	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4579764	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6656819	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6660167	0.84[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6698203	0.83[MEX][hapmap]
rs724829	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7528491	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871097	chr1:94850443-94941890	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94885200-94907200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:94885200-94915000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:94885800-94894000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:94885800-94894000	Weak transcription	Colonic Mucosa	Colon
5	chr1:94887400-94894800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:94888000-94894200	Weak transcription	Right Ventricle	heart
7	chr1:94888000-94895000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:94888000-94895400	Weak transcription	Lung	lung
9	chr1:94888000-94902200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:94888200-94894000	Weak transcription	Gastric	stomach
11	chr1:94888200-94905400	Weak transcription	Right Atrium	heart
12	chr1:94888400-94914600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:94889000-94899200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:94889200-94914200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:94889400-94894800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:94889600-94894000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:94889600-94896000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:94889800-94895200	Weak transcription	Psoas Muscle	Psoas
19	chr1:94890200-94894800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:94891000-94895600	Enhancers	Stomach Mucosa	stomach
21	chr1:94891400-94894200	Enhancers	Osteobl	bone
22	chr1:94891400-94899200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:94891600-94894200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:94891800-94894000	Weak transcription	NHDF-Ad	bronchial
25	chr1:94891800-94894800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:94891800-94894800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:94891800-94901400	Weak transcription	Dnd41	blood
28	chr1:94892000-94894000	Weak transcription	Fetal Intestine Large	intestine
29	chr1:94892000-94894000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:94892000-94894200	Weak transcription	Fetal Intestine Small	intestine
31	chr1:94892000-94894800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:94892000-94896200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:94892000-94896600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:94892000-94901400	Weak transcription	Primary T cells from cord blood	blood
35	chr1:94892000-94905000	Weak transcription	HMEC	breast
36	chr1:94892200-94894400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:94892200-94896400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:94892400-94894200	Weak transcription	Left Ventricle	heart
39	chr1:94892400-94894200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:94892400-94897200	Enhancers	Liver	Liver
41	chr1:94892400-94897400	Enhancers	HepG2	liver
42	chr1:94892600-94895000	Enhancers	Small Intestine	intestine
43	chr1:94892800-94894000	Weak transcription	Pancreas	Pancrea
44	chr1:94892800-94894200	Weak transcription	Thymus	Thymus
45	chr1:94892800-94895200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:94892800-94900000	Weak transcription	Brain Substantia Nigra	brain
47	chr1:94892800-94901400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:94893000-94894600	Weak transcription	Fetal Thymus	thymus
49	chr1:94893000-94902400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:94893200-94894200	Enhancers	Placenta Amnion	Placenta Amnion

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