Variant report

Variant	rs4554231
Chromosome Location	chr5:43421858-43421859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43121943..43123711-chr5:43420551..43422374,2	MCF-7	breast:
2	chr5:43414209..43417437-chr5:43419319..43422239,3	K562	blood:
3	chr5:43420922..43425218-chr5:43425765..43430067,4	MCF-7	breast:
4	chr5:43409599..43413283-chr5:43419907..43422419,3	K562	blood:
5	chr5:43421006..43424016-chr5:43430085..43432621,4	MCF-7	breast:
6	chr5:43413385..43415029-chr5:43421683..43423950,2	MCF-7	breast:
7	chr5:43414418..43419410-chr5:43420621..43423728,9	MCF-7	breast:
8	chr5:43421198..43423838-chr5:43433065..43436250,3	MCF-7	breast:
9	chr5:43420341..43428921-chr5:43480819..43486060,17	MCF-7	breast:
10	chr5:43420789..43422517-chr5:43480138..43481780,2	K562	blood:
11	chr5:43421016..43422893-chr5:43468500..43470011,2	MCF-7	breast:
12	chr5:43421017..43424119-chr5:43432639..43434257,5	MCF-7	breast:
13	chr5:43420821..43424326-chr5:43480907..43485286,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction
ENSG00000151882	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10066349	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10069318	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12656248	0.98[ASN][1000 genomes]
rs13159247	1.00[ASN][1000 genomes]
rs13160431	0.98[ASN][1000 genomes]
rs13167785	1.00[ASN][1000 genomes]
rs13167974	1.00[ASN][1000 genomes]
rs13190188	1.00[ASN][1000 genomes]
rs16873315	0.93[AFR][1000 genomes]
rs16873319	1.00[ASN][1000 genomes]
rs34057521	1.00[ASN][1000 genomes]
rs34087297	0.98[ASN][1000 genomes]
rs34181466	1.00[ASN][1000 genomes]
rs34353246	0.93[ASN][1000 genomes]
rs34388270	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34685576	1.00[ASN][1000 genomes]
rs35141306	1.00[ASN][1000 genomes]
rs35929451	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4264950	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4438885	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4498257	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4529199	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs56729517	0.91[AFR][1000 genomes]
rs6886399	0.93[AFR][1000 genomes]
rs6889653	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6890108	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71629168	1.00[ASN][1000 genomes]
rs71629169	0.98[ASN][1000 genomes]
rs7713529	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7720858	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7731345	0.91[AFR][1000 genomes]
rs7736173	1.00[ASN][1000 genomes]
rs7736174	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43419000-43432600	Weak transcription	Colonic Mucosa	Colon
2	chr5:43420600-43430200	Weak transcription	Gastric	stomach
3	chr5:43421200-43422000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:43421400-43422400	Enhancers	Stomach Mucosa	stomach
5	chr5:43421600-43422000	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr5:43421600-43422000	Enhancers	Pancreas	Pancrea
7	chr5:43421600-43422000	Enhancers	Small Intestine	intestine
8	chr5:43421600-43422200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:43421600-43422200	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr5:43421600-43422400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr5:43421600-43422800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:43421600-43422800	Enhancers	Fetal Kidney	kidney
13	chr5:43421600-43422800	Enhancers	NH-A	brain
14	chr5:43421600-43423000	Enhancers	NHEK	skin
15	chr5:43421600-43423400	Enhancers	Fetal Intestine Small	intestine
16	chr5:43421800-43422000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:43421800-43422000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr5:43421800-43422400	Enhancers	HSMM	muscle
19	chr5:43421800-43422600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:43421800-43422800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:43421800-43422800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:43421800-43422800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:43421800-43422800	Enhancers	Duodenum Mucosa	Duodenum
24	chr5:43421800-43423000	Enhancers	Liver	Liver
25	chr5:43421800-43423000	Enhancers	Fetal Intestine Large	intestine
26	chr5:43421800-43423200	Enhancers	HMEC	breast
27	chr5:43421800-43423400	Enhancers	Hela-S3	cervix
28	chr5:43421800-43423600	Enhancers	HepG2	liver

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