Variant report

Variant	rs72946431
Chromosome Location	chr2:98408049-98408050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98406044..98408810-chr2:98414530..98416277,2	MCF-7	breast:
2	chr2:98407471..98409052-chr2:98413591..98415122,2	MCF-7	breast:
3	chr2:98397492..98399885-chr2:98406316..98408049,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11892146	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11895466	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11898394	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11900781	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11900903	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11903844	0.85[AFR][1000 genomes]
rs1503201	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1503203	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022557	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022726	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022736	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17025339	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2309318	0.94[AFR][1000 genomes]
rs35774346	0.89[AFR][1000 genomes]
rs56065241	1.00[AMR][1000 genomes]
rs57434542	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58187838	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60828800	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60885334	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61712471	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6543226	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6726775	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6734701	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6736475	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6737992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6742955	0.85[AFR][1000 genomes]
rs6746457	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942824	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942830	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942834	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942836	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942856	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942862	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942871	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942872	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942876	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942882	0.89[AFR][1000 genomes]
rs72942885	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942894	0.82[AFR][1000 genomes]
rs72942896	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942898	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944808	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944812	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944813	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944818	0.81[AFR][1000 genomes]
rs72944825	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944834	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944842	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946409	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946410	0.94[AFR][1000 genomes]
rs72946417	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946421	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946425	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946447	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946448	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946453	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7579764	0.92[AFR][1000 genomes];1.00[AMR][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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98368600-98413000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:98377400-98410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:98378600-98421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:98382800-98419800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:98383000-98408600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:98383200-98408800	Weak transcription	Fetal Brain Male	brain
7	chr2:98383200-98420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:98388000-98408600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:98389000-98408200	Weak transcription	NH-A	brain
11	chr2:98392200-98409200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:98392400-98408800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:98392400-98415600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:98392400-98418600	Weak transcription	Fetal Kidney	kidney
15	chr2:98393800-98409000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:98394200-98415000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:98398800-98421000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:98399000-98409200	Weak transcription	Small Intestine	intestine
19	chr2:98399600-98429600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:98401400-98422600	Strong transcription	Primary B cells from cord blood	blood
21	chr2:98401600-98422400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:98402000-98411600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:98402000-98416600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:98402000-98423200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr2:98402000-98440400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr2:98402200-98412000	Strong transcription	Fetal Intestine Large	intestine
27	chr2:98402200-98422200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:98402200-98422600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:98402400-98410000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:98402400-98410000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:98402400-98410000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr2:98402400-98410000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr2:98402400-98410200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:98402400-98410200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr2:98402400-98410400	Strong transcription	Fetal Muscle Leg	muscle
36	chr2:98402400-98410600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:98402400-98411400	Strong transcription	Fetal Stomach	stomach
38	chr2:98402400-98411800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:98402400-98428600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr2:98402600-98410000	Strong transcription	Primary T cells from cord blood	blood
41	chr2:98402600-98411600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:98402600-98411800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:98402600-98422200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:98402600-98422600	Strong transcription	Liver	Liver
45	chr2:98402800-98409800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:98402800-98410000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:98402800-98410000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:98402800-98410000	Strong transcription	Spleen	Spleen
49	chr2:98402800-98410200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:98402800-98410400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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