Variant report

Variant	rs73047715
Chromosome Location	chr2:190420074-190420075
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190344161..190345933-chr2:190418841..190421806,2	MCF-7	breast:
2	chr2:190411762..190417364-chr2:190417405..190425188,8	MCF-7	breast:
3	chr2:190310939..190313402-chr2:190419193..190420763,2	MCF-7	breast:
4	chr2:190347309..190351333-chr2:190419513..190421740,3	MCF-7	breast:
5	chr2:190403642..190408765-chr2:190418705..190422272,7	MCF-7	breast:
6	chr2:190418477..190421853-chr2:190444282..190447899,4	K562	blood:
7	chr2:190420060..190420825-chr4:189116929..189117774,2	MCF-7	breast:
8	chr2:190406104..190406632-chr2:190420068..190420613,2	MCF-7	breast:
9	chr2:190417267..190420213-chr2:190420232..190423060,2	K562	blood:
10	chr2:190416454..190421330-chr2:190422959..190427410,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138449	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10165458	1.00[AMR][1000 genomes]
rs10169961	1.00[AMR][1000 genomes]
rs10207870	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13398414	1.00[AMR][1000 genomes]
rs13398464	1.00[AMR][1000 genomes]
rs13401036	1.00[AMR][1000 genomes]
rs13403213	1.00[AMR][1000 genomes]
rs13419394	1.00[AMR][1000 genomes]
rs13424504	1.00[AMR][1000 genomes]
rs28475172	1.00[AMR][1000 genomes]
rs6757248	1.00[AMR][1000 genomes]
rs6760660	1.00[AMR][1000 genomes]
rs73045800	0.97[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190407400-190424200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:190408200-190420600	Weak transcription	Small Intestine	intestine
3	chr2:190408800-190422400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:190411200-190420600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:190413000-190424200	Weak transcription	Fetal Heart	heart
6	chr2:190414000-190424600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:190414200-190420600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:190414200-190422600	Weak transcription	HMEC	breast
9	chr2:190414200-190422800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:190414200-190423200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:190414400-190422400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:190414600-190424200	Weak transcription	Dnd41	blood
13	chr2:190415000-190423400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:190415200-190423200	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:190415200-190423200	Weak transcription	Fetal Stomach	stomach
16	chr2:190415200-190424200	Weak transcription	NHDF-Ad	bronchial
17	chr2:190415200-190426400	Weak transcription	HSMMtube	muscle
18	chr2:190415400-190428400	Weak transcription	HSMM	muscle
19	chr2:190416000-190421800	Enhancers	Fetal Intestine Small	intestine
20	chr2:190416200-190425200	Enhancers	HepG2	liver
21	chr2:190416400-190422200	Enhancers	Fetal Intestine Large	intestine
22	chr2:190416800-190420600	Weak transcription	Right Ventricle	heart
23	chr2:190416800-190423600	Weak transcription	Left Ventricle	heart
24	chr2:190417000-190431000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:190417200-190420600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:190417200-190425000	Enhancers	Liver	Liver
27	chr2:190417400-190433600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:190417800-190420200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:190417800-190422400	Weak transcription	Fetal Kidney	kidney
30	chr2:190417800-190422800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:190417800-190426200	Weak transcription	K562	blood
32	chr2:190418000-190420600	Weak transcription	Fetal Brain Male	brain
33	chr2:190418200-190420200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:190418200-190420200	Weak transcription	NHEK	skin
35	chr2:190418200-190422800	Weak transcription	Adipose Nuclei	Adipose
36	chr2:190418200-190424200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:190418400-190422200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:190418600-190423200	Weak transcription	Stomach Mucosa	stomach
39	chr2:190418600-190424600	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:190418600-190425800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:190419000-190420800	Enhancers	Ovary	ovary
42	chr2:190419000-190421600	Enhancers	Placenta	Placenta
43	chr2:190419000-190425800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:190419200-190420600	Weak transcription	Pancreas	Pancrea
45	chr2:190419200-190424200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr2:190419600-190421000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr2:190419600-190421000	Enhancers	Hela-S3	cervix
48	chr2:190419800-190420200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:190419800-190420800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:190419800-190422400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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