Variant report

Variant	rs71626140
Chromosome Location	chr5:58483954-58483955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:58483761..58484964-chr5:59095567..59096624,7	K562	blood:
2	chr5:58483785..58484780-chr5:58514094..58514743,3	MCF-7	breast:
3	chr5:58483931..58484785-chr5:58663381..58664456,4	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11749543	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs33950471	0.89[ASN][1000 genomes]
rs34563226	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34615918	0.86[EUR][1000 genomes]
rs35399502	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73758114	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58439000-58484000	Weak transcription	Fetal Kidney	kidney
2	chr5:58449800-58489400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:58461000-58484200	Weak transcription	HUVEC	blood vessel
4	chr5:58464200-58484000	Weak transcription	Brain Anterior Caudate	brain
5	chr5:58464200-58485400	Weak transcription	Aorta	Aorta
6	chr5:58469200-58484400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:58471000-58484800	Weak transcription	Pancreas	Pancrea
8	chr5:58471600-58484200	Weak transcription	Brain Germinal Matrix	brain
9	chr5:58472000-58484400	Weak transcription	Primary B cells from cord blood	blood
10	chr5:58472200-58485800	Weak transcription	Stomach Mucosa	stomach
11	chr5:58472800-58484200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:58474400-58520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:58474600-58484400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr5:58474800-58484400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:58474800-58484800	Weak transcription	Fetal Intestine Small	intestine
16	chr5:58474800-58491000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:58475000-58484400	Weak transcription	Right Ventricle	heart
18	chr5:58475200-58484200	Weak transcription	Fetal Stomach	stomach
19	chr5:58475800-58484800	Weak transcription	Fetal Intestine Large	intestine
20	chr5:58476800-58484200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:58478800-58484400	Strong transcription	Hela-S3	cervix
22	chr5:58479800-58484000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:58479800-58484400	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:58479800-58487200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:58479800-58489800	Weak transcription	Gastric	stomach
26	chr5:58480000-58484000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:58480000-58485400	Weak transcription	Left Ventricle	heart
28	chr5:58480200-58488800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:58481000-58486600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:58482000-58484000	Enhancers	Rectal Smooth Muscle	rectum
31	chr5:58482200-58484600	Weak transcription	Psoas Muscle	Psoas
32	chr5:58482600-58484600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:58482800-58484000	Weak transcription	Colon Smooth Muscle	Colon
34	chr5:58482800-58484200	Weak transcription	Right Atrium	heart
35	chr5:58483400-58484000	Flanking Active TSS	A549	lung
36	chr5:58483400-58484200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:58483400-58484600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr5:58483600-58484000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr5:58483600-58484000	Enhancers	Brain Angular Gyrus	brain
40	chr5:58483600-58484200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:58483600-58484200	Enhancers	Brain Hippocampus Middle	brain
42	chr5:58483600-58484200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr5:58483600-58484400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:58483600-58484400	Enhancers	HSMMtube	muscle
45	chr5:58483600-58484600	Flanking Active TSS	Fetal Lung	lung
46	chr5:58483600-58484800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:58483600-58484800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:58483600-58484800	Active TSS	NHLF	lung
49	chr5:58483600-58485000	Enhancers	Fetal Brain Female	brain
50	chr5:58483800-58484000	Enhancers	HUES6 Cell Line	embryonic stem cell

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