Variant report

Variant	rs4894053
Chromosome Location	chr2:179710195-179710196
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10497519	0.81[AMR][1000 genomes]
rs13402763	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419085	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13421990	0.81[AMR][1000 genomes]
rs17355623	0.81[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	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179693400-179712600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:179693400-179726000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:179694200-179713400	Weak transcription	Spleen	Spleen
4	chr2:179695600-179712600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:179695600-179712600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:179695600-179713000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:179695800-179711000	Weak transcription	Right Ventricle	heart
8	chr2:179695800-179738400	Weak transcription	Fetal Intestine Large	intestine
9	chr2:179696400-179728800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:179701800-179710400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:179701800-179712000	Weak transcription	Primary B cells from cord blood	blood
12	chr2:179701800-179712200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:179702000-179710400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:179702200-179713200	Weak transcription	Fetal Thymus	thymus
15	chr2:179702200-179749200	Weak transcription	Thymus	Thymus
16	chr2:179702400-179729200	Weak transcription	Lung	lung
17	chr2:179702400-179730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:179702800-179728600	Weak transcription	Pancreas	Pancrea
19	chr2:179703400-179712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:179704400-179720800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:179707200-179721000	Strong transcription	Primary T cells from cord blood	blood
22	chr2:179707800-179711200	Enhancers	Brain Germinal Matrix	brain
23	chr2:179708000-179711600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:179708000-179727800	Weak transcription	Psoas Muscle	Psoas
25	chr2:179708200-179710400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:179708200-179712000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:179708600-179711800	Enhancers	Stomach Smooth Muscle	stomach
28	chr2:179708800-179711200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:179709000-179710200	Enhancers	Ovary	ovary
30	chr2:179709000-179711200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:179709000-179711400	Enhancers	Colon Smooth Muscle	Colon
32	chr2:179709000-179711400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr2:179709000-179711400	Enhancers	Fetal Muscle Leg	muscle
34	chr2:179709000-179711600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:179709000-179712000	Enhancers	HSMMtube	muscle
36	chr2:179709200-179710600	Enhancers	Aorta	Aorta
37	chr2:179709200-179711000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:179709200-179711000	Enhancers	Fetal Brain Female	brain
39	chr2:179709200-179711200	Enhancers	Brain Hippocampus Middle	brain
40	chr2:179709200-179711400	Enhancers	Fetal Brain Male	brain
41	chr2:179709200-179711600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:179709200-179711600	Enhancers	Rectal Smooth Muscle	rectum
43	chr2:179709200-179711600	Enhancers	HSMM	muscle
44	chr2:179709200-179711600	Enhancers	NHDF-Ad	bronchial
45	chr2:179709200-179711600	Enhancers	Osteobl	bone
46	chr2:179709400-179710200	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr2:179709400-179710600	Enhancers	Brain Cingulate Gyrus	brain
48	chr2:179709400-179711000	Weak transcription	Left Ventricle	heart
49	chr2:179709400-179711200	Enhancers	NHLF	lung
50	chr2:179709400-179714800	Weak transcription	H1 Cell Line	embryonic stem cell

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