Variant report

Variant	rs718011
Chromosome Location	chr11:36521415-36521416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:36515412..36518304-chr11:36519171..36521686,2	K562	blood:
2	chr11:36520913..36523596-chr11:36531535..36533082,2	K562	blood:
3	chr11:36520918..36523181-chr11:36525815..36527986,2	K562	blood:
4	chr11:36519978..36521868-chr11:36530889..36533233,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175104	Chromatin interaction
ENSG00000166349	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1159234	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275362	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs1304568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs331476	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs331479	1.00[CHB][hapmap]
rs4365030	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4514391	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030460	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030461	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030480	1.00[CHB][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510428	1.00[CHB][hapmap]
rs9630172	1.00[CHB][hapmap]
rs9630174	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:123 , 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	chr11:36504800-36521600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:36504800-36521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:36504800-36522800	Strong transcription	Liver	Liver
8	chr11:36504800-36523000	Strong transcription	Fetal Muscle Trunk	muscle
9	chr11:36505200-36521600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:36505400-36521600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr11:36505400-36523200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:36506600-36523200	Strong transcription	Placenta	Placenta
13	chr11:36507400-36524800	Weak transcription	Psoas Muscle	Psoas
14	chr11:36507600-36521800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:36508800-36530400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:36509800-36521600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:36510000-36523200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:36510000-36525600	Strong transcription	Fetal Thymus	thymus
19	chr11:36510200-36521600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:36510200-36523400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:36510400-36521800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr11:36510400-36523000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:36510400-36523000	Strong transcription	Adipose Nuclei	Adipose
24	chr11:36510400-36523800	Strong transcription	Primary B cells from cord blood	blood
25	chr11:36510600-36524600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:36510600-36525400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr11:36510800-36523200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:36511000-36521600	Strong transcription	Osteobl	bone
29	chr11:36511000-36526000	Strong transcription	Dnd41	blood
30	chr11:36511800-36523400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:36512200-36521800	Weak transcription	Aorta	Aorta
32	chr11:36512200-36530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:36512400-36523400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:36512400-36525000	Weak transcription	Spleen	Spleen
35	chr11:36512400-36529800	Weak transcription	Colonic Mucosa	Colon
36	chr11:36513800-36524200	Weak transcription	Pancreas	Pancrea
37	chr11:36513800-36529800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:36513800-36530000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:36513800-36530400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:36513800-36530400	Weak transcription	Lung	lung
41	chr11:36514000-36521600	Weak transcription	Fetal Brain Male	brain
42	chr11:36514000-36521600	Weak transcription	Fetal Heart	heart
43	chr11:36514000-36521800	Weak transcription	Gastric	stomach
44	chr11:36514000-36522000	Weak transcription	Right Ventricle	heart
45	chr11:36514000-36529600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:36514000-36530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:36514000-36530800	Weak transcription	Small Intestine	intestine
48	chr11:36514200-36521600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr11:36514400-36521800	Weak transcription	HepG2	liver
50	chr11:36515400-36523200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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