Variant report

Variant	rs6485729
Chromosome Location	chr11:47089381-47089382
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	chr11:47088319..47090594-chr11:47093365..47095673,2	MCF-7	breast:
2	chr11:47088601..47091574-chr11:47093803..47096124,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11039051	0.85[YRI][hapmap]
rs11039071	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039087	0.91[AFR][1000 genomes]
rs12288724	0.93[ASW][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];0.89[YRI][hapmap]
rs12293894	0.95[AFR][1000 genomes]
rs4647707	0.96[YRI][hapmap]
rs59812946	0.83[AFR][1000 genomes]
rs6485743	1.00[ASW][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7106654	0.96[YRI][hapmap]
rs7128520	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73462094	0.83[AFR][1000 genomes]
rs73462095	0.92[AFR][1000 genomes]
rs7930424	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs7949025	1.00[ASW][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][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	nsv1043108	chr11:47041565-47117248	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47068400-47092400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr11:47072600-47093000	Weak transcription	Ovary	ovary
3	chr11:47072800-47093000	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:47073200-47092400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:47073800-47092200	Weak transcription	Placenta	Placenta
6	chr11:47073800-47100200	Weak transcription	Thymus	Thymus
7	chr11:47075200-47093400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:47075800-47093400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:47077600-47113200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:47078000-47097000	Weak transcription	Aorta	Aorta
11	chr11:47078200-47093200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:47078400-47092400	Weak transcription	Small Intestine	intestine
13	chr11:47078600-47092600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:47079400-47093000	Weak transcription	Fetal Brain Male	brain
15	chr11:47080000-47092400	Weak transcription	Fetal Intestine Small	intestine
16	chr11:47080000-47092400	Weak transcription	Fetal Stomach	stomach
17	chr11:47080400-47090000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:47080600-47093200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:47080800-47103000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:47081000-47092400	Weak transcription	Fetal Intestine Large	intestine
21	chr11:47083200-47093000	Weak transcription	Brain Anterior Caudate	brain
22	chr11:47083200-47093000	Weak transcription	Brain Substantia Nigra	brain
23	chr11:47083200-47100600	Weak transcription	NH-A	brain
24	chr11:47083400-47091600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:47083600-47092800	Weak transcription	A549	lung
26	chr11:47084400-47090800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:47084600-47092000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:47084600-47093000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:47084600-47093400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:47084600-47093400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:47084600-47093400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:47084600-47093400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:47084600-47098400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:47085400-47092400	Weak transcription	Fetal Lung	lung
35	chr11:47085800-47102400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:47088000-47092400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:47088200-47089400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr11:47088200-47089400	Enhancers	Hela-S3	cervix
39	chr11:47088200-47089400	Enhancers	NHDF-Ad	bronchial
40	chr11:47088400-47089600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:47088600-47089400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:47088800-47089400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:47089000-47089400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr11:47089000-47089400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:47089000-47089400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:47089000-47089400	Enhancers	Fetal Muscle Leg	muscle
47	chr11:47089000-47089400	Enhancers	Gastric	stomach
48	chr11:47089000-47089400	Flanking Active TSS	HSMMtube	muscle
49	chr11:47089000-47089400	Enhancers	K562	blood
50	chr11:47089000-47090000	Enhancers	Pancreas	Pancrea

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