Variant report

Variant	rs1043596
Chromosome Location	chr6:131161504-131161505
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: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12110524	0.88[JPT][hapmap]
rs12194612	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206057	0.88[JPT][hapmap]
rs1811949	0.80[CEU][hapmap]
rs2005012	0.91[EUR][1000 genomes]
rs2095961	0.84[CEU][hapmap]
rs2297853	0.80[CEU][hapmap]
rs3777438	0.82[JPT][hapmap]
rs3777457	0.88[JPT][hapmap]
rs6921396	0.80[CEU][hapmap]
rs6922177	0.84[CEU][hapmap]
rs6938586	0.88[JPT][hapmap]
rs7769678	0.80[CEU][hapmap]
rs867707	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs915171	0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs915172	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs928592	0.83[EUR][1000 genomes]
rs9321263	0.84[CEU][hapmap]
rs9321265	0.83[JPT][hapmap]
rs933063	0.88[CEU][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs9372985	0.83[CEU][hapmap]
rs9492767	0.83[JPT][hapmap]
rs9492774	0.83[CEU][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1043596	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:63 , 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	chr6:131150600-131183400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:131151600-131216600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:131152400-131161800	Strong transcription	Fetal Intestine Large	intestine
8	chr6:131152800-131168000	Weak transcription	Fetal Kidney	kidney
9	chr6:131153600-131162400	Weak transcription	Fetal Lung	lung
10	chr6:131154000-131173800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:131155000-131174600	Weak transcription	Aorta	Aorta
12	chr6:131157600-131170200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:131157800-131162400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:131157800-131163400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:131157800-131168200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:131157800-131170200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:131158000-131172200	Weak transcription	Brain Anterior Caudate	brain
18	chr6:131158200-131162200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:131158200-131163000	Strong transcription	HepG2	liver
20	chr6:131158200-131173800	Weak transcription	NH-A	brain
21	chr6:131158200-131179400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:131158200-131190600	Weak transcription	Spleen	Spleen
23	chr6:131158200-131214400	Weak transcription	Lung	lung
24	chr6:131158400-131163000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr6:131158400-131168200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr6:131158600-131174400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:131159000-131162200	Weak transcription	Osteobl	bone
28	chr6:131159000-131174600	Weak transcription	Placenta	Placenta
29	chr6:131159000-131229000	Weak transcription	Colonic Mucosa	Colon
30	chr6:131159600-131161600	Strong transcription	Fetal Stomach	stomach
31	chr6:131159600-131161600	Strong transcription	Dnd41	blood
32	chr6:131159600-131161800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:131159600-131161800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr6:131159600-131162800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:131159600-131163400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:131159600-131174400	Weak transcription	A549	lung
37	chr6:131159800-131163800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:131160200-131162000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr6:131160200-131162200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:131160200-131162400	Weak transcription	Ovary	ovary
41	chr6:131160200-131167600	Weak transcription	NHDF-Ad	bronchial
42	chr6:131160400-131162800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:131160400-131164200	Weak transcription	Brain Angular Gyrus	brain
44	chr6:131160600-131162400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:131160600-131162800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr6:131160600-131167000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:131160600-131179200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr6:131160800-131161800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:131160800-131162000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:131160800-131162400	Weak transcription	Fetal Muscle Leg	muscle

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