Variant report

Variant	rs17020532
Chromosome Location	chr2:99105071-99105072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99103835..99106316-chr2:99117856..99120129,2	MCF-7	breast:
2	chr2:99100442..99102392-chr2:99104726..99106993,2	K562	blood:
3	chr2:99104757..99106560-chr2:99122762..99124646,2	K562	blood:
4	chr2:99104340..99107491-chr2:99108122..99111203,3	MCF-7	breast:
5	chr2:99104270..99106953-chr2:99108808..99110415,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11885661	1.00[EUR][1000 genomes]
rs11890366	1.00[EUR][1000 genomes]
rs11891148	1.00[EUR][1000 genomes]
rs11901761	1.00[EUR][1000 genomes]
rs13395005	1.00[EUR][1000 genomes]
rs17030716	1.00[EUR][1000 genomes]
rs17031804	0.83[YRI][hapmap]
rs17031912	0.83[YRI][hapmap]
rs17031975	0.83[YRI][hapmap]
rs17032010	0.83[YRI][hapmap]
rs17032916	0.83[YRI][hapmap]
rs17033137	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034163	1.00[EUR][1000 genomes]
rs17034202	1.00[EUR][1000 genomes]
rs17034261	1.00[EUR][1000 genomes]
rs1847551	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2271041	1.00[EUR][1000 genomes]
rs2871214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35028575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6710669	1.00[EUR][1000 genomes]
rs6716095	1.00[EUR][1000 genomes]
rs6727604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6730113	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6730953	1.00[EUR][1000 genomes]
rs6739018	1.00[EUR][1000 genomes]
rs6749575	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6749743	1.00[EUR][1000 genomes]
rs6754711	1.00[EUR][1000 genomes]
rs6756034	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756693	1.00[EUR][1000 genomes]
rs7561785	1.00[EUR][1000 genomes]
rs7570509	1.00[EUR][1000 genomes]
rs7585045	1.00[EUR][1000 genomes]
rs7605114	1.00[EUR][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	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007244	chr2:99063753-99136472	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99072600-99119600	Weak transcription	Aorta	Aorta
2	chr2:99090600-99107200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:99090800-99108000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:99094000-99107000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:99095000-99107200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:99096000-99106600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:99096800-99113600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:99097200-99106800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr2:99097400-99106800	Weak transcription	Fetal Stomach	stomach
10	chr2:99097400-99110400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:99098000-99106800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr2:99098400-99115200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:99100000-99105200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:99100000-99111000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:99100200-99105400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr2:99100200-99107000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr2:99100200-99110400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:99100400-99105800	Weak transcription	Right Ventricle	heart
19	chr2:99100400-99106000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:99100400-99121600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:99100600-99105200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:99100600-99110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:99101000-99107600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:99101000-99115200	Weak transcription	Fetal Lung	lung
25	chr2:99101600-99105600	Weak transcription	Colonic Mucosa	Colon
26	chr2:99101600-99111200	Weak transcription	Fetal Brain Female	brain
27	chr2:99101600-99121200	Weak transcription	Gastric	stomach
28	chr2:99101600-99131400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:99101800-99105600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:99101800-99105800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:99101800-99108400	Weak transcription	A549	lung
32	chr2:99102000-99105400	Weak transcription	Fetal Brain Male	brain
33	chr2:99102000-99106800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:99102000-99107600	Weak transcription	Dnd41	blood
35	chr2:99102200-99122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:99102600-99105200	Enhancers	Primary B cells from peripheral blood	blood
37	chr2:99102600-99106800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr2:99102600-99107600	Enhancers	Brain Anterior Caudate	brain
39	chr2:99102800-99105800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:99103200-99107400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:99103200-99113200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:99103400-99106000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:99103400-99106400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr2:99103400-99106400	Weak transcription	Ovary	ovary
45	chr2:99103400-99107600	Weak transcription	Esophagus	oesophagus
46	chr2:99103400-99110000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:99103400-99115200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:99103600-99106600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr2:99103600-99113400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:99103600-99118400	Weak transcription	HSMMtube	muscle

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