Variant report

Variant	rs17071937
Chromosome Location	chr13:49149963-49149964
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	chr13:49141688..49143234-chr13:49148647..49150198,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs12583787	1.00[ASN][1000 genomes]
rs12585384	1.00[ASN][1000 genomes]
rs12857866	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs174858	1.00[CEU][hapmap]
rs1926595	0.81[AMR][1000 genomes]
rs1926597	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs198580	1.00[CEU][hapmap]
rs198582	1.00[CEU][hapmap]
rs198589	1.00[CEU][hapmap]
rs2148515	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2156910	1.00[CEU][hapmap]
rs2897587	0.89[EUR][1000 genomes]
rs367438	1.00[CEU][hapmap]
rs4151536	1.00[CEU][hapmap]
rs4151567	1.00[CEU][hapmap]
rs4151598	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4151602	1.00[ASN][1000 genomes]
rs4151610	1.00[CEU][hapmap]
rs4151613	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs449151	1.00[CEU][hapmap]
rs449268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55686933	1.00[ASN][1000 genomes]
rs57394470	1.00[ASN][1000 genomes]
rs61074776	0.81[AMR][1000 genomes]
rs6650379	1.00[ASN][1000 genomes]
rs7139763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7319276	1.00[ASN][1000 genomes]
rs7326934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73479216	0.83[ASN][1000 genomes]
rs73479220	1.00[ASN][1000 genomes]
rs73486867	0.81[AMR][1000 genomes]
rs73495018	1.00[ASN][1000 genomes]
rs73495037	1.00[ASN][1000 genomes]
rs74074915	1.00[ASN][1000 genomes]
rs74074916	1.00[ASN][1000 genomes]
rs74074942	1.00[ASN][1000 genomes]
rs74074944	1.00[ASN][1000 genomes]
rs74074946	1.00[ASN][1000 genomes]
rs74074951	1.00[ASN][1000 genomes]
rs74077638	1.00[ASN][1000 genomes]
rs9316384	1.00[ASN][1000 genomes]
rs9316386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9316387	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9316396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316398	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9331984	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9331994	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9331999	1.00[CEU][hapmap]
rs9332031	1.00[CEU][hapmap]
rs9332033	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9332037	1.00[CEU][hapmap]
rs9332044	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9332049	1.00[CEU][hapmap]
rs9332055	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9332070	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9332085	1.00[ASN][1000 genomes]
rs9591172	0.81[AMR][1000 genomes]
rs9591176	1.00[ASN][1000 genomes]
rs9595914	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9595924	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595926	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595929	0.89[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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	14 gene(s)	inside rSNPs	diseases
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv455881	chr13:49134412-49169570	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv561591	chr13:49134412-49169570	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49135000-49155000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:49137200-49153000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr13:49141800-49150200	Weak transcription	Aorta	Aorta
4	chr13:49143000-49153600	Weak transcription	Liver	Liver
5	chr13:49144000-49151400	Weak transcription	Lung	lung
6	chr13:49144800-49153000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr13:49145000-49150800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:49145800-49152800	Weak transcription	Placenta	Placenta
9	chr13:49146000-49153200	Weak transcription	Stomach Mucosa	stomach
10	chr13:49146000-49153400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr13:49146000-49153800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr13:49146200-49150400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:49146400-49150800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:49146400-49154000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr13:49146800-49157400	Weak transcription	HSMMtube	muscle
16	chr13:49147000-49150000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr13:49147000-49150600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr13:49147200-49150000	Bivalent Enhancer	Primary B cells from cord blood	blood
19	chr13:49147400-49152800	Weak transcription	Brain Hippocampus Middle	brain
20	chr13:49147600-49150400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:49147600-49151000	Weak transcription	Fetal Stomach	stomach
22	chr13:49147600-49160800	Weak transcription	Thymus	Thymus
23	chr13:49148000-49153600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr13:49148400-49153200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr13:49148400-49153800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr13:49148400-49153800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr13:49148400-49158400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr13:49148400-49159000	Weak transcription	Pancreas	Pancrea
29	chr13:49148400-49160600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr13:49148600-49150000	Enhancers	HepG2	liver
31	chr13:49148600-49153000	Weak transcription	Adipose Nuclei	Adipose
32	chr13:49148600-49153800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr13:49148800-49150400	Weak transcription	Fetal Thymus	thymus
34	chr13:49148800-49151600	Weak transcription	Spleen	Spleen
35	chr13:49148800-49152800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr13:49148800-49152800	Weak transcription	Fetal Muscle Leg	muscle
37	chr13:49148800-49152800	Weak transcription	Right Atrium	heart
38	chr13:49148800-49153600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr13:49148800-49153800	Weak transcription	Brain Substantia Nigra	brain
40	chr13:49148800-49157800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr13:49149400-49150400	Weak transcription	Dnd41	blood
42	chr13:49149400-49151400	Weak transcription	Esophagus	oesophagus
43	chr13:49149400-49153200	Weak transcription	Left Ventricle	heart
44	chr13:49149800-49150000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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