Variant report

Variant	rs6886791
Chromosome Location	chr5:58411770-58411771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10044159	1.00[ASN][1000 genomes]
rs10064468	0.86[EUR][1000 genomes]
rs10068809	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9968728	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][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	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:32 , 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	chr5:58401000-58412200	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:58401000-58412400	Weak transcription	Right Atrium	heart
6	chr5:58401000-58413200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:58401000-58418600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:58403600-58412000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:58404000-58412400	Weak transcription	Psoas Muscle	Psoas
10	chr5:58404200-58412200	Weak transcription	Hela-S3	cervix
11	chr5:58404200-58414200	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:58406200-58412400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:58406600-58412200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:58406800-58412400	Weak transcription	Left Ventricle	heart
15	chr5:58408400-58412400	Weak transcription	Pancreas	Pancrea
16	chr5:58408400-58422600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:58409400-58412200	Genic enhancers	A549	lung
18	chr5:58410600-58412800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:58410600-58414600	Enhancers	Fetal Heart	heart
20	chr5:58411000-58413000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:58411200-58412000	Enhancers	NHEK	skin
22	chr5:58411200-58412200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:58411200-58412200	Enhancers	HMEC	breast
24	chr5:58411200-58413800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:58411200-58422800	Weak transcription	Right Ventricle	heart
26	chr5:58411400-58412000	Weak transcription	HSMM	muscle
27	chr5:58411400-58412400	Enhancers	HUVEC	blood vessel
28	chr5:58411400-58412800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:58411400-58413400	Enhancers	Rectal Smooth Muscle	rectum
30	chr5:58411600-58412200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:58411600-58412400	Weak transcription	Stomach Mucosa	stomach
32	chr5:58411600-58413000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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