Variant report

Variant	rs11038916
Chromosome Location	chr11:46571550-46571551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46563592..46566187-chr11:46570531..46572350,2	MCF-7	breast:
2	chr11:46568146..46571770-chr11:46637257..46640089,4	MCF-7	breast:
3	chr11:46570718..46573249-chr11:46575495..46578902,3	MCF-7	breast:
4	chr11:46571213..46573722-chr11:46574368..46578173,3	K562	blood:

Variant related genes	Relation type
ENSG00000180423	Chromatin interaction
ENSG00000175224	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11038876	0.85[YRI][hapmap]
rs11038880	0.83[YRI][hapmap]
rs11038901	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs11038934	1.00[AMR][1000 genomes]
rs11038967	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs11819818	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11827909	0.83[YRI][hapmap]
rs12276664	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs12278517	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12278651	1.00[AMR][1000 genomes]
rs12285637	0.83[AMR][1000 genomes]
rs12290327	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2229163	1.00[YRI][hapmap]
rs3136452	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs3136455	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs3136483	1.00[AMR][1000 genomes]
rs7113194	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs7129348	0.81[YRI][hapmap]
rs7942614	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7952678	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	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	chr11:46559400-46575200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:46559400-46575400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:46564000-46575000	Weak transcription	Right Atrium	heart
4	chr11:46564600-46574800	Weak transcription	Stomach Mucosa	stomach
5	chr11:46565000-46575200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:46565000-46579200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:46566000-46579200	Weak transcription	Fetal Heart	heart
8	chr11:46566600-46575200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:46567400-46571800	Weak transcription	K562	blood
10	chr11:46567400-46574800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:46567400-46574800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:46567400-46575000	Weak transcription	HSMMtube	muscle
13	chr11:46567400-46576200	Weak transcription	Aorta	Aorta
14	chr11:46567400-46579000	Weak transcription	Pancreas	Pancrea
15	chr11:46567400-46579200	Weak transcription	Gastric	stomach
16	chr11:46567800-46576200	Weak transcription	Colonic Mucosa	Colon
17	chr11:46568000-46575000	Weak transcription	Small Intestine	intestine
18	chr11:46568000-46576400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:46568200-46574800	Weak transcription	NHLF	lung
20	chr11:46568200-46575400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:46568200-46575400	Weak transcription	Fetal Kidney	kidney
22	chr11:46568400-46575000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:46568400-46575000	Weak transcription	NHEK	skin
24	chr11:46568600-46575000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr11:46568800-46575000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:46568800-46575000	Weak transcription	Left Ventricle	heart
27	chr11:46568800-46575000	Weak transcription	Right Ventricle	heart
28	chr11:46568800-46575200	Weak transcription	Brain Angular Gyrus	brain
29	chr11:46568800-46575400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:46568800-46576400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:46568800-46579000	Weak transcription	Lung	lung
32	chr11:46568800-46582200	Weak transcription	Fetal Stomach	stomach
33	chr11:46568800-46611000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:46568800-46612600	Weak transcription	Brain Germinal Matrix	brain
35	chr11:46569000-46574600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:46569000-46574800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:46569000-46574800	Weak transcription	NH-A	brain
38	chr11:46569000-46575000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:46569000-46575000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:46569000-46575000	Weak transcription	Osteobl	bone
41	chr11:46569000-46575200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr11:46569000-46575200	Weak transcription	Brain Substantia Nigra	brain
43	chr11:46569000-46576400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:46569000-46579000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:46569000-46579200	Weak transcription	Esophagus	oesophagus
46	chr11:46569000-46579200	Weak transcription	Spleen	Spleen
47	chr11:46569200-46574600	Weak transcription	HUVEC	blood vessel
48	chr11:46569200-46575000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:46569200-46575000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:46569200-46575000	Weak transcription	Adipose Nuclei	Adipose

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