Variant report

Variant	rs56193394
Chromosome Location	chr2:58314142-58314143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58259305..58261530-chr2:58312995..58315728,2	MCF-7	breast:
2	chr2:58310331..58313102-chr2:58313255..58316210,2	K562	blood:
3	chr2:58311779..58314572-chr2:58317224..58318941,2	MCF-7	breast:
4	chr2:58273852..58275893-chr2:58312639..58315544,2	K562	blood:
5	chr2:58307014..58309268-chr2:58311845..58314843,2	K562	blood:

Variant related genes	Relation type
ENSG00000028116	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73942274	0.93[AFR][1000 genomes]
rs73942288	0.96[AFR][1000 genomes]
rs759352	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv582097	chr2:58266099-58346966	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv874201	chr2:58269871-58350504	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv874202	chr2:58269871-58375688	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv527551	chr2:58311684-58317208	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58274800-58317400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:58275000-58317400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:58275000-58321600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:58275000-58326600	Weak transcription	Pancreas	Pancrea
5	chr2:58275800-58316800	Weak transcription	HMEC	breast
6	chr2:58279000-58319000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:58279400-58315600	Weak transcription	Dnd41	blood
8	chr2:58282600-58350400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:58284200-58317600	Weak transcription	HepG2	liver
10	chr2:58284400-58325000	Weak transcription	NHEK	skin
11	chr2:58285200-58317000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:58286200-58317600	Weak transcription	K562	blood
13	chr2:58286400-58317600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:58287200-58315800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:58290400-58315800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:58291200-58316400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:58291600-58315600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:58291600-58316200	Weak transcription	HUVEC	blood vessel
19	chr2:58291600-58317800	Weak transcription	HSMM	muscle
20	chr2:58291600-58317800	Weak transcription	NH-A	brain
21	chr2:58291600-58319000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:58291600-58321800	Weak transcription	Fetal Thymus	thymus
23	chr2:58291600-58325000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:58291800-58318800	Weak transcription	Osteobl	bone
25	chr2:58292000-58316200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:58292200-58316200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:58292200-58319000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:58292200-58319000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:58294200-58320800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:58297000-58316800	Weak transcription	Ovary	ovary
31	chr2:58297600-58319000	Weak transcription	Primary T cells from cord blood	blood
32	chr2:58297800-58316400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:58297800-58317000	Weak transcription	Fetal Intestine Large	intestine
34	chr2:58298000-58315800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:58298000-58317600	Weak transcription	Left Ventricle	heart
36	chr2:58298200-58315600	Weak transcription	Adipose Nuclei	Adipose
37	chr2:58298200-58316200	Weak transcription	Fetal Lung	lung
38	chr2:58298200-58317000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:58301600-58319200	Weak transcription	Psoas Muscle	Psoas
40	chr2:58302400-58315800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:58302400-58317200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:58302600-58315200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:58302600-58315600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:58302600-58316200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:58302800-58314600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr2:58303000-58315600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:58303000-58358800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:58303400-58315400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:58307600-58328600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:58308400-58315800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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