Variant report

Variant	rs5030472
Chromosome Location	chr11:36513786-36513787
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	chr11:36511850..36514350-chr11:36531047..36533063,2	MCF-7	breast:
2	chr11:36512676..36514240-chr11:36531331..36533252,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166349	Chromatin interaction
ENSG00000175104	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1046864	0.91[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[ASN][1000 genomes]
rs11033623	1.00[MEX][hapmap];0.87[TSI][hapmap]
rs11600757	1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap]
rs12281565	1.00[MEX][hapmap];0.87[TSI][hapmap]
rs2201845	0.82[CEU][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs2303439	0.91[CEU][hapmap]
rs331457	0.91[CEU][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs331459	0.80[ASN][1000 genomes]
rs4755453	0.91[CEU][hapmap]
rs502243	0.80[ASN][1000 genomes]
rs5030403	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs5030409	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs5030437	0.91[CEU][hapmap]
rs5030445	0.91[CEU][hapmap]
rs5030470	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs5030482	0.91[CEU][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs5030485	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs540386	0.91[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[ASN][1000 genomes]
rs552140	0.91[CEU][hapmap];0.80[ASN][1000 genomes]
rs7111402	1.00[MEX][hapmap]
rs7127484	0.84[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs890258	1.00[MEX][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36490000-36530400	Weak transcription	Esophagus	oesophagus
2	chr11:36500800-36522400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:36502200-36523400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:36504400-36524000	Weak transcription	Stomach Mucosa	stomach
5	chr11:36504800-36514000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:36504800-36517400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:36504800-36517600	Strong transcription	Fetal Muscle Leg	muscle
8	chr11:36504800-36521200	Strong transcription	Fetal Intestine Large	intestine
9	chr11:36504800-36521600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:36504800-36521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:36504800-36522800	Strong transcription	Liver	Liver
12	chr11:36504800-36523000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr11:36505200-36516400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:36505200-36521600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:36505400-36520800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:36505400-36521600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr11:36505400-36523200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:36505600-36514600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:36505600-36517200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr11:36505800-36517200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:36505800-36520800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:36506000-36520400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:36506000-36520800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:36506400-36517600	Strong transcription	HSMMtube	muscle
25	chr11:36506600-36514200	Strong transcription	NHEK	skin
26	chr11:36506600-36523200	Strong transcription	Placenta	Placenta
27	chr11:36506800-36514000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:36506800-36515000	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr11:36507400-36524800	Weak transcription	Psoas Muscle	Psoas
30	chr11:36507600-36521800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:36508200-36514000	Strong transcription	Brain Germinal Matrix	brain
32	chr11:36508800-36530400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:36509200-36514800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:36509200-36520400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:36509400-36514200	Strong transcription	Brain Anterior Caudate	brain
36	chr11:36509600-36514000	Strong transcription	Brain Angular Gyrus	brain
37	chr11:36509600-36514000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:36509600-36514200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:36509600-36516200	Strong transcription	Thymus	Thymus
40	chr11:36509800-36514400	Strong transcription	NHLF	lung
41	chr11:36509800-36521600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:36510000-36520200	Strong transcription	Left Ventricle	heart
43	chr11:36510000-36523200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:36510000-36525600	Strong transcription	Fetal Thymus	thymus
45	chr11:36510200-36514000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:36510200-36514000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:36510200-36514000	Strong transcription	NHDF-Ad	bronchial
48	chr11:36510200-36514200	Strong transcription	HMEC	breast
49	chr11:36510200-36515000	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr11:36510200-36515000	Strong transcription	HSMM	muscle

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