Variant report

Variant	rs1704922
Chromosome Location	chr12:104928110-104928111
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104919574..104922787-chr12:104926132..104929881,3	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11613208	0.92[CEU][hapmap]
rs12581154	0.88[JPT][hapmap]
rs12581196	0.88[JPT][hapmap]
rs12581832	1.00[JPT][hapmap]
rs1553836	0.96[CEU][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs1553839	0.89[EUR][1000 genomes]
rs1625417	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1626422	0.91[EUR][1000 genomes]
rs1628116	0.96[CEU][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs1704903	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1704905	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1704915	0.97[EUR][1000 genomes]
rs1704916	1.00[CEU][hapmap];0.81[GIH][hapmap];0.89[LWK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1704917	0.96[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs1704918	0.88[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1704921	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1704924	1.00[CEU][hapmap];0.92[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs1704925	1.00[CEU][hapmap];0.92[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs1704926	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1704927	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1704929	0.96[EUR][1000 genomes]
rs1795851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1795852	1.00[CEU][hapmap];0.92[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs1795853	1.00[CEU][hapmap];0.92[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs1795854	0.88[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1795855	1.00[CEU][hapmap];0.81[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs1795856	0.96[CEU][hapmap];0.81[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs1795857	0.88[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.98[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1795859	1.00[CEU][hapmap];0.81[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs1795861	0.98[EUR][1000 genomes]
rs1795862	0.96[CEU][hapmap];0.89[GIH][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs1795864	0.96[EUR][1000 genomes]
rs1795867	0.96[CEU][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs1795868	0.91[EUR][1000 genomes]
rs1795870	0.96[CEU][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs1795872	0.96[CEU][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs1973589	0.96[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs2055861	0.88[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2665748	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2706273	0.96[EUR][1000 genomes]
rs6539159	0.92[CEU][hapmap]
rs7300706	1.00[JPT][hapmap]
rs7968613	0.92[CEU][hapmap]
rs7980620	0.85[JPT][hapmap]
rs907097	0.94[AFR][1000 genomes];0.97[EUR][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	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1704922	KIAA1033	cis	cerebellum	SCAN
rs1704922	UTP20	cis	cerebellum	SCAN
rs1704922	GOLGA2B	cis	parietal	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104915600-104936600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:104917800-104928200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:104918000-104934200	Weak transcription	A549	lung
4	chr12:104918200-104928200	Weak transcription	Osteobl	bone
5	chr12:104918200-104928400	Weak transcription	Ovary	ovary
6	chr12:104918400-104928200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:104919200-104935000	Weak transcription	Primary T cells from cord blood	blood
8	chr12:104920600-104929400	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:104921000-104929200	Weak transcription	Right Ventricle	heart
10	chr12:104921200-104928400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:104921400-104931600	Weak transcription	Gastric	stomach
12	chr12:104921400-104939000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:104922200-104928400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:104923200-104930200	Weak transcription	NHEK	skin
15	chr12:104923400-104928200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:104923400-104929800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:104923400-104930000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:104924000-104930600	Weak transcription	Placenta	Placenta
19	chr12:104924800-104939600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:104925400-104930600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:104925400-104931000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:104925600-104928400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:104925600-104929200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:104925600-104931400	Enhancers	Primary B cells from peripheral blood	blood
25	chr12:104925800-104929000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:104926000-104928600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr12:104926000-104930200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr12:104926000-104931000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:104926600-104928400	Weak transcription	Lung	lung
30	chr12:104926600-104928600	Enhancers	Primary hematopoietic stem cells	blood
31	chr12:104926600-104929200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr12:104926600-104930400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:104926800-104928200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr12:104926800-104928600	Enhancers	Fetal Thymus	thymus
35	chr12:104926800-104928600	Enhancers	GM12878-XiMat	blood
36	chr12:104926800-104929200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:104927200-104928600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr12:104927200-104930200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:104927200-104930200	Weak transcription	Thymus	Thymus
40	chr12:104927200-104930200	Weak transcription	HMEC	breast
41	chr12:104927200-104943000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:104927400-104928600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr12:104927400-104929000	Enhancers	Primary B cells from cord blood	blood
44	chr12:104927400-104929200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr12:104927400-104929200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:104927400-104929200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr12:104927400-104930200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:104927600-104928400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr12:104927600-104928400	Weak transcription	Pancreas	Pancrea
50	chr12:104927600-104928600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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