Variant report

Variant	rs17290693
Chromosome Location	chr2:182350489-182350490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10930969	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12479308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs155091	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs155109	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs155110	1.00[CHB][hapmap];0.84[GIH][hapmap];0.87[ASN][1000 genomes]
rs155111	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs17224524	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17224699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17225354	0.86[CHB][hapmap]
rs17290351	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770120	1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.87[ASN][1000 genomes]
rs3770124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3770126	0.82[MKK][hapmap]
rs3770136	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs3770138	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182324400-182410400	Weak transcription	NHLF	lung
2	chr2:182324600-182360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:182330000-182390200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:182331400-182363400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:182331400-182382200	Weak transcription	HMEC	breast
6	chr2:182332200-182353000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:182334600-182381400	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:182335000-182366800	Weak transcription	Fetal Stomach	stomach
9	chr2:182335000-182405800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr2:182335200-182356200	Weak transcription	Gastric	stomach
11	chr2:182336800-182382800	Weak transcription	Small Intestine	intestine
12	chr2:182337000-182354000	Strong transcription	Primary B cells from cord blood	blood
13	chr2:182338200-182363400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:182338200-182378400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr2:182338200-182383400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:182338200-182399400	Weak transcription	Colonic Mucosa	Colon
17	chr2:182338200-182406800	Strong transcription	Fetal Thymus	thymus
18	chr2:182338200-182406800	Weak transcription	Spleen	Spleen
19	chr2:182338400-182382200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:182338600-182354000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr2:182338600-182405600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:182339000-182381000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:182339200-182380600	Strong transcription	Dnd41	blood
24	chr2:182339400-182405600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:182339800-182355200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:182340000-182354600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:182341800-182363400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:182342200-182351000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:182344400-182351200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:182344400-182352800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:182344400-182362000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:182344400-182367200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:182344600-182354600	Strong transcription	Primary T cells from cord blood	blood
34	chr2:182344600-182354600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr2:182345400-182352200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:182345400-182353800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:182345600-182352400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:182346000-182352600	Strong transcription	Thymus	Thymus
39	chr2:182346000-182356000	Strong transcription	HSMMtube	muscle
40	chr2:182346000-182378600	Weak transcription	Lung	lung
41	chr2:182346800-182361400	Weak transcription	Fetal Intestine Small	intestine
42	chr2:182347000-182351000	Strong transcription	NHDF-Ad	bronchial
43	chr2:182347000-182353000	Strong transcription	GM12878-XiMat	blood
44	chr2:182347200-182351000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:182347200-182399800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:182347400-182363400	Weak transcription	HSMM	muscle
47	chr2:182348200-182352200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:182348200-182377400	Weak transcription	NH-A	brain
49	chr2:182348600-182359400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:182348800-182352200	Strong transcription	Rectal Mucosa Donor 29	rectum

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