Variant report

Variant	rs60304749
Chromosome Location	chr2:20619352-20619353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20616643..20618657-chr2:20618688..20621631,2	MCF-7	breast:
2	chr2:20611214..20614002-chr2:20617108..20620081,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOB-7	chr2:20618800-20619359	NONHSAT069441

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

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

rs_ID	r²[population]
rs59362641	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62121973	1.00[ASN][1000 genomes]
rs72786535	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20610400-20621000	Weak transcription	Left Ventricle	heart
2	chr2:20615600-20619600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:20615600-20621000	Weak transcription	Esophagus	oesophagus
4	chr2:20615600-20621000	Weak transcription	NHDF-Ad	bronchial
5	chr2:20615600-20621600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:20615600-20624200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:20615800-20621400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:20616000-20621200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:20616000-20621400	Weak transcription	NHEK	skin
10	chr2:20616200-20619600	Enhancers	Liver	Liver
11	chr2:20617000-20621600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:20617200-20623400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:20618200-20620000	Flanking Active TSS	HepG2	liver
14	chr2:20618200-20625800	Enhancers	Fetal Muscle Leg	muscle
15	chr2:20618200-20626000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:20618400-20619400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:20618400-20619400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:20618400-20619400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:20618400-20619400	Enhancers	Stomach Mucosa	stomach
20	chr2:20618400-20619800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:20618400-20619800	Enhancers	Colonic Mucosa	Colon
22	chr2:20618400-20619800	Enhancers	Ovary	ovary
23	chr2:20618400-20619800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr2:20618400-20620000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr2:20618400-20620000	Enhancers	HSMMtube	muscle
26	chr2:20618400-20620200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:20618400-20620200	Enhancers	Fetal Stomach	stomach
28	chr2:20618400-20620200	Enhancers	Rectal Smooth Muscle	rectum
29	chr2:20618400-20626000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:20618800-20619400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:20618800-20619400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:20618800-20619400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:20618800-20619400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:20618800-20619400	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr2:20618800-20619400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr2:20618800-20619800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:20618800-20620000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:20618800-20620000	Enhancers	Fetal Kidney	kidney
39	chr2:20618800-20620200	Enhancers	NHLF	lung
40	chr2:20618800-20623400	Enhancers	Fetal Muscle Trunk	muscle
41	chr2:20619000-20619400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:20619000-20619400	Enhancers	Spleen	Spleen
43	chr2:20619000-20619600	Enhancers	Placenta	Placenta
44	chr2:20619000-20619800	Enhancers	Lung	lung
45	chr2:20619000-20620000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:20619000-20620000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr2:20619000-20620200	Flanking Active TSS	HSMM	muscle
48	chr2:20619000-20622000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:20619200-20619400	Enhancers	Aorta	Aorta
50	chr2:20619200-20619400	Enhancers	Fetal Lung	lung

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