Variant report

Variant	rs72950305
Chromosome Location	chr2:113449691-113449692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113345427..113348355-chr2:113448517..113451814,3	MCF-7	breast:
2	chr2:113448771..113451782-chr2:113462370..113466299,3	K562	blood:
3	chr2:113438233..113440139-chr2:113447946..113450321,2	K562	blood:
4	chr2:113446769..113452405-chr2:113453017..113461667,12	K562	blood:
5	chr2:113401762..113406603-chr2:113447625..113451672,8	MCF-7	breast:
6	chr2:113448245..113450207-chr2:113454665..113457286,2	MCF-7	breast:
7	chr2:113420362..113422891-chr2:113448382..113450135,2	MCF-7	breast:
8	chr2:113448136..113451389-chr2:113461614..113465494,4	K562	blood:
9	chr2:113401091..113404250-chr2:113448471..113450847,6	MCF-7	breast:
10	chr2:113422747..113425498-chr2:113447887..113450877,2	K562	blood:
11	chr2:113447408..113450068-chr2:113484150..113486328,2	MCF-7	breast:
12	chr2:113440402..113444876-chr2:113446106..113453600,11	K562	blood:
13	chr2:113420288..113422863-chr2:113448665..113451519,3	MCF-7	breast:
14	chr2:113435569..113437643-chr2:113447893..113450101,2	MCF-7	breast:
15	chr2:113397350..113406961-chr2:113434420..113455729,52	K562	blood:
16	chr2:113444435..113446825-chr2:113447700..113452009,3	MCF-7	breast:
17	chr2:113441111..113444198-chr2:113446439..113450510,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237753	Chromatin interaction
ENSG00000243389	Chromatin interaction
ENSG00000144136	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57133190	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61300217	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription 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 miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113437400-113449800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:113442600-113449800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:113444400-113450200	Weak transcription	Spleen	Spleen
4	chr2:113444600-113449800	Weak transcription	Primary T cells from cord blood	blood
5	chr2:113445000-113450000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:113445600-113450600	Enhancers	Fetal Brain Male	brain
7	chr2:113446600-113450000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:113447800-113450800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:113447800-113451400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:113448200-113450400	Enhancers	Dnd41	blood
11	chr2:113448200-113451000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:113448200-113451400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:113448200-113451600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr2:113448200-113452200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:113448400-113449800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:113448400-113450000	Enhancers	Fetal Brain Female	brain
17	chr2:113448400-113450200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:113448400-113450400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:113448400-113450400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:113448400-113450400	Enhancers	GM12878-XiMat	blood
21	chr2:113448400-113450400	Enhancers	HMEC	breast
22	chr2:113448400-113450400	Enhancers	NHEK	skin
23	chr2:113448400-113450400	Enhancers	NHLF	lung
24	chr2:113448400-113450800	Enhancers	Primary B cells from peripheral blood	blood
25	chr2:113448400-113450800	Enhancers	Primary hematopoietic stem cells	blood
26	chr2:113448400-113450800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr2:113448400-113450800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:113448400-113451000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:113448400-113451000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr2:113448400-113451000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr2:113448400-113451000	Enhancers	NH-A	brain
32	chr2:113448400-113451000	Enhancers	NHDF-Ad	bronchial
33	chr2:113448400-113451200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:113448400-113451200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:113448400-113451400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:113448400-113451400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:113448400-113451400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:113448400-113451400	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:113448400-113451400	Enhancers	Colonic Mucosa	Colon
40	chr2:113448400-113451400	Enhancers	HUVEC	blood vessel
41	chr2:113448400-113451600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:113448400-113451600	Enhancers	K562	blood
43	chr2:113448600-113450200	Weak transcription	Pancreas	Pancrea
44	chr2:113448600-113450400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:113448600-113450800	Enhancers	Duodenum Mucosa	Duodenum
46	chr2:113448800-113450000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:113448800-113450000	Enhancers	Osteobl	bone
48	chr2:113448800-113450200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:113448800-113450600	Weak transcription	Lung	lung
50	chr2:113448800-113450800	Enhancers	Fetal Intestine Large	intestine

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