Variant report

Variant	rs4487076
Chromosome Location	chr2:63053424-63053425
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63048902..63052950-chr2:63053080..63055706,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11891134	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027450	1.00[AMR][1000 genomes]
rs17027529	1.00[AMR][1000 genomes]
rs2068312	1.00[AMR][1000 genomes]
rs57093504	1.00[AMR][1000 genomes]
rs72888917	1.00[AMR][1000 genomes]
rs72888961	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63020600-63082000	Weak transcription	Pancreas	Pancrea
2	chr2:63028600-63063400	Weak transcription	Brain Substantia Nigra	brain
3	chr2:63031000-63083000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:63031400-63082000	Weak transcription	Thymus	Thymus
5	chr2:63031600-63053800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:63033800-63060600	Weak transcription	Aorta	Aorta
7	chr2:63034400-63054000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:63038200-63054000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:63040600-63082000	Weak transcription	Lung	lung
10	chr2:63041600-63060400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:63041800-63054000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:63041800-63060400	Weak transcription	K562	blood
13	chr2:63042000-63054200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:63044000-63060200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:63045400-63060200	Weak transcription	Psoas Muscle	Psoas
16	chr2:63045600-63072400	Weak transcription	NHEK	skin
17	chr2:63046400-63101800	Weak transcription	Brain Angular Gyrus	brain
18	chr2:63048200-63054000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:63048600-63055800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:63048800-63054200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:63048800-63063400	Weak transcription	Right Ventricle	heart
22	chr2:63049200-63053800	Weak transcription	GM12878-XiMat	blood
23	chr2:63049400-63054000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:63049600-63065800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:63049800-63054200	Weak transcription	Esophagus	oesophagus
26	chr2:63050200-63060400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:63050400-63054000	Weak transcription	Brain Anterior Caudate	brain
28	chr2:63050400-63054200	Weak transcription	Left Ventricle	heart
29	chr2:63050600-63054600	Weak transcription	Fetal Stomach	stomach
30	chr2:63050600-63091800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:63050800-63054200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:63050800-63060400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:63051000-63053600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:63051000-63054000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:63051200-63053800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:63051200-63060400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:63051400-63053600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:63051400-63053800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:63051600-63054200	Enhancers	HSMM	muscle
40	chr2:63051600-63054600	Enhancers	HSMMtube	muscle
41	chr2:63051600-63056000	Weak transcription	Fetal Intestine Small	intestine
42	chr2:63051800-63053800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:63052000-63053800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:63052000-63054000	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:63052000-63099600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:63052200-63054200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:63052200-63054800	Enhancers	HUVEC	blood vessel
48	chr2:63052200-63057600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:63052200-63060000	Weak transcription	Small Intestine	intestine
50	chr2:63052200-63064400	Weak transcription	Placenta	Placenta

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