Variant report

Variant	rs12654485
Chromosome Location	chr5:58407448-58407449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10062340	0.88[CEU][hapmap]
rs10062397	0.88[CEU][hapmap]
rs10066573	0.87[CEU][hapmap]
rs10068543	0.87[CEU][hapmap]
rs1038080	0.88[CEU][hapmap]
rs13183985	0.87[CEU][hapmap]
rs1551939	0.88[CEU][hapmap]
rs16877156	0.87[CEU][hapmap]
rs33927508	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4700321	0.88[CEU][hapmap]
rs6450502	0.87[CEU][hapmap]
rs6864156	0.87[CEU][hapmap]
rs6889456	0.87[CEU][hapmap]
rs7707392	0.88[CEU][hapmap]
rs7707566	0.88[CEU][hapmap]
rs986067	0.87[CEU][hapmap]
rs997421	0.88[CEU][hapmap]

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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58396200-58420000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:58399400-58419400	Weak transcription	Fetal Intestine Small	intestine
3	chr5:58400800-58412200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:58401000-58407800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:58401000-58408000	Weak transcription	Fetal Brain Female	brain
6	chr5:58401000-58412200	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:58401000-58412400	Weak transcription	Right Atrium	heart
8	chr5:58401000-58413200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:58401000-58418600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:58401400-58411400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:58401800-58410600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:58403600-58412000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:58404000-58408000	Weak transcription	Pancreas	Pancrea
14	chr5:58404000-58408600	Genic enhancers	A549	lung
15	chr5:58404000-58411000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:58404000-58412400	Weak transcription	Psoas Muscle	Psoas
17	chr5:58404200-58412200	Weak transcription	Hela-S3	cervix
18	chr5:58404200-58414200	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:58405400-58411200	Weak transcription	HMEC	breast
20	chr5:58405800-58410400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:58406000-58407600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:58406000-58410600	Weak transcription	Fetal Heart	heart
23	chr5:58406200-58412400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:58406600-58412200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:58406800-58412400	Weak transcription	Left Ventricle	heart

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