Variant report

Variant	rs59181197
Chromosome Location	chr2:173199890-173199891
allele	A/C
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]
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]
rs73018831	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173195400-173204000	Weak transcription	Left Ventricle	heart
2	chr2:173195400-173204000	Weak transcription	Right Ventricle	heart
3	chr2:173197600-173204000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:173197600-173204400	Weak transcription	Thymus	Thymus
5	chr2:173197800-173204000	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:173198000-173200400	Enhancers	HepG2	liver
7	chr2:173198400-173201800	Weak transcription	Small Intestine	intestine
8	chr2:173198400-173204400	Weak transcription	Brain Substantia Nigra	brain
9	chr2:173198600-173204000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:173198600-173204000	Weak transcription	Fetal Thymus	thymus
11	chr2:173198600-173204000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:173198600-173204200	Weak transcription	Fetal Lung	lung
13	chr2:173198800-173200800	Enhancers	Pancreas	Pancrea
14	chr2:173198800-173203600	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:173198800-173204000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:173198800-173204000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:173199000-173203000	Enhancers	Colonic Mucosa	Colon
18	chr2:173199600-173200000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:173199600-173200200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr2:173199600-173200600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:173199600-173201800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr2:173199600-173208000	Enhancers	Stomach Mucosa	stomach
23	chr2:173199800-173200000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:173199800-173200200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:173199800-173200200	Enhancers	Lung	lung
26	chr2:173199800-173200400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:173199800-173200400	Enhancers	HSMMtube	muscle
28	chr2:173199800-173200800	Enhancers	Gastric	stomach
29	chr2:173199800-173203200	Enhancers	Fetal Intestine Large	intestine
30	chr2:173199800-173205000	Enhancers	Fetal Intestine Small	intestine

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