Variant report

Variant	rs1096110
Chromosome Location	chr2:30759821-30759822
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30759172..30762525-chr2:30767223..30769886,4	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10197664	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10205934	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10495776	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes]
rs11127276	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1113661	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11676852	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11678346	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1252644	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12612080	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12616814	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12621663	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12714308	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1464817	0.88[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1807334	0.88[YRI][hapmap]
rs2363073	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2593432	0.91[CEU][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes]
rs2593438	0.91[CEU][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes]
rs2593446	0.88[YRI][hapmap]
rs2602805	0.81[EUR][1000 genomes]
rs2609927	0.86[ASN][1000 genomes]
rs2609944	0.88[YRI][hapmap]
rs6712951	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs711242	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71412838	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs736256	0.95[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7602714	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829626	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829628	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs829668	0.83[EUR][1000 genomes]
rs9789517	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30729000-30764600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:30734800-30764000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:30743000-30761000	Weak transcription	NHEK	skin
4	chr2:30743000-30763600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:30743000-30764600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:30743000-30764600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:30743000-30767400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:30743000-30768000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:30743200-30760800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:30749000-30812600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:30750400-30760000	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:30751000-30760800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:30751000-30766800	Weak transcription	NHLF	lung
14	chr2:30753000-30761000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:30753600-30770000	Weak transcription	Small Intestine	intestine
16	chr2:30753800-30768600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:30754400-30760200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:30756200-30760600	Weak transcription	NH-A	brain
19	chr2:30757600-30760000	Weak transcription	Hela-S3	cervix
20	chr2:30757800-30809000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:30758000-30760600	ZNF genes & repeats	Fetal Lung	lung
22	chr2:30758200-30795000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:30758400-30765800	Weak transcription	Aorta	Aorta
24	chr2:30758600-30761400	Weak transcription	Ovary	ovary
25	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
26	chr2:30758800-30784400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr2:30758800-30785000	Weak transcription	Left Ventricle	heart
28	chr2:30758800-30809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:30759000-30761200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:30759000-30785200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:30759200-30760800	Weak transcription	Right Ventricle	heart
32	chr2:30759200-30762200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:30759200-30767600	Weak transcription	Fetal Kidney	kidney
34	chr2:30759200-30805600	Weak transcription	K562	blood
35	chr2:30759400-30761000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:30759400-30763400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:30759400-30763600	Weak transcription	Fetal Thymus	thymus
38	chr2:30759400-30764400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:30759400-30764400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:30759400-30764600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:30759400-30767000	Weak transcription	Fetal Heart	heart
42	chr2:30759400-30769600	Weak transcription	HepG2	liver
43	chr2:30759400-30785000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:30759400-30785000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:30759400-30785000	Weak transcription	Dnd41	blood
46	chr2:30759600-30760000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:30759600-30760200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:30759600-30763200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:30759600-30763800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:30759600-30764000	Weak transcription	Primary B cells from cord blood	blood

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