Variant report

Variant	rs73018831
Chromosome Location	chr2:173194759-173194760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs59181197	1.00[AMR][1000 genomes]
rs59620164	1.00[AMR][1000 genomes]
rs60051939	1.00[AMR][1000 genomes]
rs60894303	1.00[AMR][1000 genomes]
rs73016837	1.00[AMR][1000 genomes]
rs73016865	1.00[AMR][1000 genomes]
rs73016874	1.00[AMR][1000 genomes]
rs73016881	1.00[AMR][1000 genomes]
rs73024153	1.00[AMR][1000 genomes]
rs73024190	1.00[AMR][1000 genomes]
rs73033218	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	nsv3034	chr2:173160295-173200113	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173191200-173197800	Weak transcription	HSMMtube	muscle
2	chr2:173193000-173194800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:173193000-173196000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr2:173193400-173195400	Enhancers	Fetal Muscle Leg	muscle
5	chr2:173193800-173195200	Enhancers	Colonic Mucosa	Colon
6	chr2:173193800-173195400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:173193800-173195400	Enhancers	Adipose Nuclei	Adipose
8	chr2:173193800-173195400	Enhancers	Lung	lung
9	chr2:173193800-173195400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr2:173193800-173195400	Enhancers	Spleen	Spleen
11	chr2:173193800-173195800	Enhancers	Stomach Mucosa	stomach
12	chr2:173193800-173196000	Enhancers	Fetal Intestine Large	intestine
13	chr2:173193800-173196000	Enhancers	Pancreas	Pancrea
14	chr2:173193800-173196800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:173194000-173195000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:173194000-173195400	Enhancers	Fetal Thymus	thymus
17	chr2:173194000-173195600	Enhancers	HepG2	liver
18	chr2:173194000-173195800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:173194000-173196200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:173194000-173196200	Enhancers	Fetal Intestine Small	intestine
21	chr2:173194000-173197600	Enhancers	Thymus	Thymus
22	chr2:173194200-173195200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:173194200-173195400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:173194400-173194800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:173194400-173194800	Weak transcription	Left Ventricle	heart
26	chr2:173194400-173195200	Enhancers	Ovary	ovary
27	chr2:173194400-173195200	Enhancers	HUVEC	blood vessel
28	chr2:173194400-173195400	Enhancers	Primary hematopoietic stem cells	blood
29	chr2:173194400-173195400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr2:173194400-173195400	Enhancers	Gastric	stomach
31	chr2:173194600-173194800	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:173194600-173195000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr2:173194600-173195200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:173194600-173195400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr2:173194600-173195400	Enhancers	Right Atrium	heart

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