Variant report

Variant	rs1043598
Chromosome Location	chr6:131161355-131161356
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	chr6:131160092..131161693-chr6:131166351..131169295,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10499174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961204	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12661081	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs12661809	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12662602	0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12664355	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13193246	0.82[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap]
rs1332491	0.92[JPT][hapmap]
rs17059681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17059683	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17059698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17059702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17059896	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap]
rs17059925	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs17831009	1.00[JPT][hapmap]
rs2007339	0.93[CHD][hapmap];0.92[JPT][hapmap]
rs2151069	0.92[JPT][hapmap]
rs2236078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2275063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2275065	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3777450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3777453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3777463	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap]
rs3822864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4895902	0.92[JPT][hapmap]
rs56027377	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6569716	0.93[CHD][hapmap];0.92[JPT][hapmap]
rs6569718	0.93[CHD][hapmap];0.92[JPT][hapmap]
rs6900810	0.92[JPT][hapmap]
rs73774307	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73775336	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73775337	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7747881	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7765007	0.92[JPT][hapmap]
rs7769153	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs933064	0.87[TSI][hapmap]

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	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131132000-131173800	Weak transcription	HSMMtube	muscle
2	chr6:131136400-131174400	Weak transcription	Left Ventricle	heart
3	chr6:131149000-131172600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:131149400-131213200	Weak transcription	Pancreas	Pancrea
5	chr6:131150400-131161400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:131150600-131183400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:131151600-131216600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:131152400-131161800	Strong transcription	Fetal Intestine Large	intestine
9	chr6:131152800-131168000	Weak transcription	Fetal Kidney	kidney
10	chr6:131153600-131162400	Weak transcription	Fetal Lung	lung
11	chr6:131154000-131173800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:131155000-131174600	Weak transcription	Aorta	Aorta
13	chr6:131157600-131170200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:131157800-131161400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:131157800-131162400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:131157800-131163400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:131157800-131168200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:131157800-131170200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:131158000-131172200	Weak transcription	Brain Anterior Caudate	brain
20	chr6:131158200-131162200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:131158200-131163000	Strong transcription	HepG2	liver
22	chr6:131158200-131173800	Weak transcription	NH-A	brain
23	chr6:131158200-131179400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:131158200-131190600	Weak transcription	Spleen	Spleen
25	chr6:131158200-131214400	Weak transcription	Lung	lung
26	chr6:131158400-131163000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr6:131158400-131168200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr6:131158600-131174400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:131159000-131162200	Weak transcription	Osteobl	bone
30	chr6:131159000-131174600	Weak transcription	Placenta	Placenta
31	chr6:131159000-131229000	Weak transcription	Colonic Mucosa	Colon
32	chr6:131159200-131161400	Strong transcription	HSMM	muscle
33	chr6:131159600-131161400	Enhancers	Brain Hippocampus Middle	brain
34	chr6:131159600-131161600	Strong transcription	Fetal Stomach	stomach
35	chr6:131159600-131161600	Strong transcription	Dnd41	blood
36	chr6:131159600-131161800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:131159600-131161800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr6:131159600-131162800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr6:131159600-131163400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr6:131159600-131174400	Weak transcription	A549	lung
41	chr6:131159800-131163800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:131160000-131161400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:131160200-131162000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:131160200-131162200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:131160200-131162400	Weak transcription	Ovary	ovary
46	chr6:131160200-131167600	Weak transcription	NHDF-Ad	bronchial
47	chr6:131160400-131162800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr6:131160400-131164200	Weak transcription	Brain Angular Gyrus	brain
49	chr6:131160600-131162400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:131160600-131162800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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