Variant report

Variant	rs17771017
Chromosome Location	chr2:46957787-46957788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46925799..46928213-chr2:46954632..46957949,3	MCF-7	breast:
2	chr2:46933207..46934969-chr2:46956262..46957915,2	K562	blood:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10495937	0.95[EUR][1000 genomes]
rs11903382	0.87[EUR][1000 genomes]
rs1446496	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1446497	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1446498	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17767067	0.81[CEU][hapmap]
rs17767121	0.81[CEU][hapmap]
rs17767151	0.81[CEU][hapmap]
rs17767283	0.81[CEU][hapmap]
rs17767307	0.81[CEU][hapmap];1.00[AFR][1000 genomes]
rs17769580	0.80[EUR][1000 genomes]
rs17769689	0.80[EUR][1000 genomes]
rs17771005	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs17771098	0.88[EUR][1000 genomes]
rs17771201	0.88[EUR][1000 genomes]
rs17771237	0.87[EUR][1000 genomes]
rs17771255	0.87[EUR][1000 genomes]
rs17771357	0.87[EUR][1000 genomes]
rs17771942	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17772285	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17772991	1.00[AFR][1000 genomes]
rs17820969	0.82[EUR][1000 genomes]
rs17821218	0.82[EUR][1000 genomes]
rs17821989	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17822782	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17823065	0.80[CEU][hapmap]
rs17823581	0.83[CEU][hapmap]
rs2045290	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3927078	0.80[EUR][1000 genomes]
rs41371146	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41379148	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55874432	0.91[EUR][1000 genomes]
rs55928499	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56006635	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56199036	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56224128	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56800355	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57124017	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58903656	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6731970	0.80[CEU][hapmap];0.93[EUR][1000 genomes]
rs6735101	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs72800543	1.00[AFR][1000 genomes]
rs72800550	1.00[AFR][1000 genomes]
rs72800587	0.80[EUR][1000 genomes]
rs72800597	0.82[EUR][1000 genomes]
rs72800599	0.82[EUR][1000 genomes]
rs72800600	0.82[EUR][1000 genomes]
rs72800602	0.82[EUR][1000 genomes]
rs72802404	0.82[EUR][1000 genomes]
rs72802406	0.82[EUR][1000 genomes]
rs72802407	0.85[EUR][1000 genomes]
rs72802408	0.82[EUR][1000 genomes]
rs72802411	0.81[EUR][1000 genomes]
rs72802415	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs72802420	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802426	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802428	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72802429	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72802430	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72802435	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72802441	0.93[EUR][1000 genomes]
rs72802444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802445	0.82[EUR][1000 genomes]
rs72802448	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802451	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802454	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802455	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802456	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802458	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72802463	0.93[EUR][1000 genomes]
rs72802466	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802467	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802486	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802487	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72802492	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72802498	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7566275	1.00[CEU][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
6	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46945400-46985400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:46947600-46975600	Weak transcription	HSMM	muscle
3	chr2:46948200-46962000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:46948200-46964400	Weak transcription	NHEK	skin
5	chr2:46948200-46967400	Weak transcription	Esophagus	oesophagus
6	chr2:46948200-46974600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:46948200-46977200	Weak transcription	Aorta	Aorta
8	chr2:46948400-46961600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:46948600-46964200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:46948600-46964400	Weak transcription	NH-A	brain
11	chr2:46948600-46974400	Weak transcription	Fetal Stomach	stomach
12	chr2:46949600-46958400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:46950800-46958200	Weak transcription	NHLF	lung
14	chr2:46950800-46975400	Weak transcription	Fetal Lung	lung
15	chr2:46951400-46962200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:46951800-46959000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:46952000-46961800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:46952600-46962000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:46952800-46957800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:46953000-46957800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:46953400-46964400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:46955000-46957800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:46955000-46958000	Weak transcription	Fetal Intestine Small	intestine
24	chr2:46955000-46975400	Weak transcription	Small Intestine	intestine
25	chr2:46955200-46958000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:46955200-46958000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:46955200-46958600	Weak transcription	Primary T cells from cord blood	blood
28	chr2:46955200-46958600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:46955200-46958600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:46955200-46959400	Weak transcription	HepG2	liver
31	chr2:46955200-46961800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:46955200-46964600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:46955200-46967600	Weak transcription	Thymus	Thymus
34	chr2:46955200-46970400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:46955200-46974400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:46955200-46984800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr2:46955200-46985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:46955400-46958000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:46955400-46958200	Weak transcription	A549	lung
40	chr2:46955400-46958400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:46955400-46959400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:46955400-46962000	Weak transcription	Liver	Liver
43	chr2:46955400-46962000	Weak transcription	Pancreas	Pancrea
44	chr2:46955400-46962000	Weak transcription	Psoas Muscle	Psoas
45	chr2:46955400-46962000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:46955400-46967600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr2:46955400-46967800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:46955400-46967800	Weak transcription	Fetal Thymus	thymus
49	chr2:46955400-46974200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:46955600-46959000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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