Variant report

Variant	rs2292912
Chromosome Location	chr11:45877688-45877689
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:45876869-45877827	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:45867823..45873583-chr11:45876186..45881298,10	MCF-7	breast:
2	chr11:45876957..45879799-chr11:46142347..46144267,2	MCF-7	breast:
3	chr11:45877056..45879214-chr5:147116551..147119032,2	MCF-7	breast:
4	chr11:45863464..45866206-chr11:45876321..45877929,2	K562	blood:

Variant related genes	Relation type
CRY2	TF binding region
ENSG00000121671	Chromatin interaction
ENSG00000135365	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10838521	0.84[JPT][hapmap]
rs11038677	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1139266	0.84[JPT][hapmap]
rs2002244	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2090602	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs3824872	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4756034	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756037	0.92[ASN][1000 genomes]
rs7105609	0.81[ASN][1000 genomes]
rs7108730	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951225	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45869800-45883600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:45870400-45878600	Weak transcription	HUVEC	blood vessel
3	chr11:45870600-45878800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:45870600-45879800	Weak transcription	Esophagus	oesophagus
5	chr11:45870800-45880800	Weak transcription	HMEC	breast
6	chr11:45871000-45878600	Weak transcription	Fetal Kidney	kidney
7	chr11:45872400-45878400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:45872400-45878400	Weak transcription	NHEK	skin
9	chr11:45872600-45878600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:45872600-45878600	Weak transcription	HSMMtube	muscle
11	chr11:45872600-45878800	Weak transcription	HSMM	muscle
12	chr11:45872600-45880200	Weak transcription	Aorta	Aorta
13	chr11:45872800-45878600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:45872800-45879000	Weak transcription	NH-A	brain
15	chr11:45873800-45879400	Strong transcription	Fetal Intestine Small	intestine
16	chr11:45874000-45878600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:45874200-45878600	Weak transcription	Colonic Mucosa	Colon
18	chr11:45874200-45878600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:45874200-45904200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:45874400-45878000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr11:45874600-45880000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:45874600-45880000	Weak transcription	Small Intestine	intestine
23	chr11:45874800-45878400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:45875200-45878600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr11:45875200-45878800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:45875200-45882600	Genic enhancers	Liver	Liver
27	chr11:45875200-45905600	Strong transcription	Primary T cells from cord blood	blood
28	chr11:45875400-45893400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:45875800-45878600	Weak transcription	Stomach Mucosa	stomach
30	chr11:45875800-45904200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr11:45876200-45877800	Weak transcription	Fetal Brain Male	brain
32	chr11:45876400-45904200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:45876600-45878400	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:45876600-45878400	Enhancers	NHDF-Ad	bronchial
35	chr11:45876600-45878600	Strong transcription	Fetal Intestine Large	intestine
36	chr11:45876600-45879400	Strong transcription	Fetal Thymus	thymus
37	chr11:45876600-45879600	Genic enhancers	Brain Anterior Caudate	brain
38	chr11:45876600-45882600	Genic enhancers	Fetal Muscle Trunk	muscle
39	chr11:45876600-45882600	Enhancers	Right Atrium	heart
40	chr11:45876800-45878000	Genic enhancers	Fetal Brain Female	brain
41	chr11:45876800-45878000	Genic enhancers	Pancreas	Pancrea
42	chr11:45876800-45878400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:45876800-45878400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr11:45876800-45878400	Strong transcription	Spleen	Spleen
45	chr11:45876800-45878600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:45876800-45878600	Strong transcription	Ovary	ovary
47	chr11:45876800-45878800	Genic enhancers	Brain Substantia Nigra	brain
48	chr11:45876800-45879400	Strong transcription	Brain Germinal Matrix	brain
49	chr11:45876800-45879800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:45876800-45881800	Enhancers	Right Ventricle	heart

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