Variant report

Variant	rs1189692
Chromosome Location	chr11:66250015-66250016
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66247121..66250078-chr11:66454971..66457807,2	MCF-7	breast:
2	chr11:66137845..66139913-chr11:66247832..66250470,2	K562	blood:
3	chr11:66245983..66252638-chr11:66253022..66262739,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174669	Chromatin interaction
ENSG00000173898	Chromatin interaction
ENSG00000254986	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1039593	1.00[EUR][1000 genomes]
rs10750785	1.00[EUR][1000 genomes]
rs10750787	1.00[EUR][1000 genomes]
rs10791871	1.00[EUR][1000 genomes]
rs10791875	1.00[EUR][1000 genomes]
rs10791877	1.00[EUR][1000 genomes]
rs1190627	1.00[EUR][1000 genomes]
rs1190628	1.00[EUR][1000 genomes]
rs1190630	1.00[EUR][1000 genomes]
rs1203483	1.00[EUR][1000 genomes]
rs12281049	1.00[EUR][1000 genomes]
rs1320675	1.00[EUR][1000 genomes]
rs1532823	1.00[EUR][1000 genomes]
rs1566871	1.00[EUR][1000 genomes]
rs1621469	1.00[EUR][1000 genomes]
rs1700188	1.00[EUR][1000 genomes]
rs1784030	1.00[EUR][1000 genomes]
rs1784035	1.00[EUR][1000 genomes]
rs1785623	1.00[EUR][1000 genomes]
rs1785624	1.00[EUR][1000 genomes]
rs1785636	1.00[EUR][1000 genomes]
rs1791677	1.00[EUR][1000 genomes]
rs3016763	1.00[EUR][1000 genomes]
rs3132761	1.00[EUR][1000 genomes]
rs35599411	1.00[EUR][1000 genomes]
rs3850949	1.00[EUR][1000 genomes]
rs3867130	1.00[EUR][1000 genomes]
rs4290235	1.00[EUR][1000 genomes]
rs4930358	1.00[EUR][1000 genomes]
rs4930359	1.00[EUR][1000 genomes]
rs4930361	1.00[EUR][1000 genomes]
rs4930364	1.00[EUR][1000 genomes]
rs4930367	1.00[EUR][1000 genomes]
rs495264	1.00[EUR][1000 genomes]
rs525698	1.00[EUR][1000 genomes]
rs548344	1.00[EUR][1000 genomes]
rs580850	1.00[EUR][1000 genomes]
rs670900	1.00[EUR][1000 genomes]
rs7104297	1.00[EUR][1000 genomes]
rs7105162	1.00[EUR][1000 genomes]
rs7125100	1.00[EUR][1000 genomes]
rs7130857	1.00[EUR][1000 genomes]
rs7131396	1.00[EUR][1000 genomes]
rs71457730	1.00[EUR][1000 genomes]
rs908693	1.00[EUR][1000 genomes]
rs948359	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh 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	91 gene(s)	inside rSNPs	diseases
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 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	chr11:66248400-66254800	Weak transcription	Ovary	ovary
2	chr11:66248400-66254800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:66248400-66255000	Weak transcription	Aorta	Aorta
4	chr11:66248400-66256800	Weak transcription	Left Ventricle	heart
5	chr11:66248600-66250200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:66248600-66250200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:66248600-66250200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:66248600-66250200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:66248600-66250400	Weak transcription	Fetal Brain Female	brain
10	chr11:66248600-66250800	Enhancers	Fetal Muscle Leg	muscle
11	chr11:66248600-66251000	Weak transcription	Primary B cells from cord blood	blood
12	chr11:66248600-66251600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:66248600-66251800	Weak transcription	Brain Germinal Matrix	brain
14	chr11:66248600-66251800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:66248600-66251800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:66248600-66252200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:66248600-66252200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:66248600-66252400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:66248600-66252400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:66248600-66252800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:66248600-66252800	Weak transcription	Esophagus	oesophagus
22	chr11:66248600-66252800	Weak transcription	Hela-S3	cervix
23	chr11:66248600-66253000	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:66248600-66253000	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:66248600-66253400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:66248600-66253400	Weak transcription	Osteobl	bone
27	chr11:66248600-66253800	Weak transcription	Fetal Intestine Large	intestine
28	chr11:66248600-66254200	Weak transcription	Brain Anterior Caudate	brain
29	chr11:66248600-66254200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:66248600-66254400	Weak transcription	Brain Angular Gyrus	brain
31	chr11:66248600-66254400	Weak transcription	Brain Substantia Nigra	brain
32	chr11:66248600-66254400	Weak transcription	Right Ventricle	heart
33	chr11:66248600-66254600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:66248600-66254800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:66248600-66255000	Weak transcription	A549	lung
36	chr11:66248600-66256800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:66248600-66259200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:66248600-66259200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:66248600-66260200	Weak transcription	HUVEC	blood vessel
40	chr11:66248600-66260200	Weak transcription	NH-A	brain
41	chr11:66248600-66260600	Weak transcription	Psoas Muscle	Psoas
42	chr11:66248600-66260800	Weak transcription	Right Atrium	heart
43	chr11:66248600-66261600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:66248600-66263200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:66248600-66263200	Weak transcription	Small Intestine	intestine
46	chr11:66248600-66277600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:66248600-66277600	Weak transcription	Fetal Brain Male	brain
48	chr11:66248600-66277600	Weak transcription	Fetal Lung	lung
49	chr11:66248600-66278000	Weak transcription	NHDF-Ad	bronchial
50	chr11:66248800-66250200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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