Variant report

Variant	rs2282613
Chromosome Location	chr11:72530196-72530197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:72530186-72530488	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:72529887-72530473	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:72529896-72530403	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:72529985-72530860	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:72529865-72530294	GM12891	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72451237..72453467-chr11:72528807..72531708,2	K562	blood:
2	chr11:72390946..72393095-chr11:72530175..72532739,2	K562	blood:
3	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
4	chr11:72529288..72531257-chr11:72537925..72540792,2	K562	blood:
5	chr11:72414882..72417123-chr11:72529003..72531110,2	MCF-7	breast:
6	chr11:72529034..72531473-chr11:72868696..72870961,2	K562	blood:

No data

Variant related genes	Relation type
ATG16L2	TF binding region
ENSG00000186635	Chromatin interaction
ENSG00000265064	Chromatin interaction
ENSG00000214530	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10898894	0.82[CHD][hapmap]
rs12418930	0.82[CHB][hapmap]
rs3765638	0.82[CHB][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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72526200-72532800	Weak transcription	Aorta	Aorta
2	chr11:72526400-72531600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:72526400-72531600	Weak transcription	Fetal Brain Female	brain
4	chr11:72526400-72532800	Weak transcription	Fetal Kidney	kidney
5	chr11:72526600-72532000	Weak transcription	Fetal Brain Male	brain
6	chr11:72526600-72532200	Weak transcription	A549	lung
7	chr11:72526600-72532400	Weak transcription	Psoas Muscle	Psoas
8	chr11:72526600-72532600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:72526800-72530200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:72526800-72532000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:72526800-72532000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:72526800-72532400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:72527000-72531600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:72527000-72532000	Weak transcription	Brain Germinal Matrix	brain
15	chr11:72527000-72532000	Weak transcription	Right Atrium	heart
16	chr11:72527000-72532200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:72527000-72532200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:72527000-72532200	Weak transcription	Small Intestine	intestine
19	chr11:72527000-72532200	Weak transcription	Hela-S3	cervix
20	chr11:72527000-72532400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:72527600-72531600	Weak transcription	Fetal Heart	heart
22	chr11:72527600-72531600	Weak transcription	Pancreas	Pancrea
23	chr11:72527600-72531800	Strong transcription	Fetal Intestine Small	intestine
24	chr11:72527600-72532200	Weak transcription	NHDF-Ad	bronchial
25	chr11:72527600-72532600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:72527800-72530400	Strong transcription	Esophagus	oesophagus
27	chr11:72527800-72531000	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:72527800-72531800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:72527800-72531800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:72527800-72531800	Weak transcription	Left Ventricle	heart
31	chr11:72527800-72531800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:72527800-72531800	Strong transcription	Stomach Smooth Muscle	stomach
33	chr11:72527800-72532000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:72527800-72532000	Weak transcription	Brain Anterior Caudate	brain
35	chr11:72527800-72532000	Weak transcription	Stomach Mucosa	stomach
36	chr11:72527800-72532200	Weak transcription	NH-A	brain
37	chr11:72527800-72532200	Weak transcription	Osteobl	bone
38	chr11:72527800-72532400	Weak transcription	Brain Substantia Nigra	brain
39	chr11:72527800-72532800	Weak transcription	HSMMtube	muscle
40	chr11:72528000-72531400	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:72528000-72531600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:72528000-72531800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:72528000-72531800	Strong transcription	Fetal Muscle Leg	muscle
44	chr11:72528000-72531800	Strong transcription	Fetal Stomach	stomach
45	chr11:72528000-72531800	Strong transcription	Fetal Thymus	thymus
46	chr11:72528000-72532400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr11:72528000-72532600	Weak transcription	HSMM	muscle
48	chr11:72528200-72531400	Strong transcription	Placenta	Placenta
49	chr11:72528200-72531600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr11:72528200-72532000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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