Variant report

Variant	rs71627597
Chromosome Location	chr5:43306374-43306375
allele	A/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43294706..43296263-chr5:43304707..43306404,2	K562	blood:
2	chr5:43305482..43308307-chr5:43384665..43387150,2	MCF-7	breast:
3	chr5:43227361..43227981-chr5:43305857..43306575,2	MCF-7	breast:
4	chr5:43230762..43232513-chr5:43306149..43307737,2	MCF-7	breast:
5	chr5:43305815..43306736-chr5:43389374..43390635,4	MCF-7	breast:
6	chr5:43231996..43232636-chr5:43305803..43306570,2	MCF-7	breast:
7	chr5:43231652..43232671-chr5:43305813..43306678,3	MCF-7	breast:
8	chr5:43105963..43106477-chr5:43305783..43306702,2	K562	blood:
9	chr5:43227474..43228357-chr5:43305769..43306669,2	MCF-7	breast:
10	chr5:43305568..43306509-chr5:43389549..43390569,3	K562	blood:
11	chr5:43119332..43123146-chr5:43304067..43307597,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction
ENSG00000112972	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10462049	1.00[EUR][1000 genomes]
rs10941618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13154319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13155023	1.00[AMR][1000 genomes]
rs13155622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13165339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13167052	1.00[AMR][1000 genomes]
rs13168456	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13169908	1.00[AMR][1000 genomes]
rs13174298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186439	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2290994	0.94[ASN][1000 genomes]
rs34150414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34238140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34379498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34497448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34709217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34762186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34880892	1.00[AMR][1000 genomes]
rs34937112	0.89[ASN][1000 genomes]
rs34965256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35142013	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35350677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35748848	1.00[AMR][1000 genomes]
rs35756093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36036217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36062172	1.00[AMR][1000 genomes]
rs36097388	1.00[AMR][1000 genomes]
rs3797152	1.00[AMR][1000 genomes]
rs3806871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71590642	1.00[AMR][1000 genomes]
rs71627598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627599	1.00[AMR][1000 genomes]
rs71627600	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71629106	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43284200-43309400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:43288200-43312400	Weak transcription	Spleen	Spleen
3	chr5:43288600-43310000	Weak transcription	Aorta	Aorta
4	chr5:43294200-43312400	Weak transcription	Thymus	Thymus
5	chr5:43294600-43309400	Weak transcription	Lung	lung
6	chr5:43295600-43311800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:43297400-43312200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:43297400-43312400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:43297600-43311800	Weak transcription	Hela-S3	cervix
10	chr5:43298600-43310200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:43298800-43310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:43298800-43311600	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:43298800-43312400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:43299000-43306400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:43299000-43307800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:43299000-43309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:43299000-43309400	Weak transcription	Gastric	stomach
18	chr5:43299000-43309800	Weak transcription	Colonic Mucosa	Colon
19	chr5:43299000-43312000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:43299000-43312200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr5:43299000-43312400	Weak transcription	Right Ventricle	heart
22	chr5:43299200-43309800	Weak transcription	Fetal Lung	lung
23	chr5:43299200-43310200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:43299400-43311800	Weak transcription	HSMM	muscle
25	chr5:43299400-43312600	Weak transcription	Placenta	Placenta
26	chr5:43300200-43311800	Weak transcription	Fetal Stomach	stomach
27	chr5:43300400-43312200	Weak transcription	Esophagus	oesophagus
28	chr5:43300400-43312200	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:43300400-43312200	Weak transcription	Fetal Thymus	thymus
30	chr5:43300400-43312400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr5:43300400-43312400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:43300600-43309800	Weak transcription	HSMMtube	muscle
33	chr5:43300800-43309200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:43300800-43309600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:43300800-43312000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr5:43301000-43309400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:43301000-43312000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr5:43301000-43312200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:43302000-43307800	Genic enhancers	HepG2	liver
40	chr5:43302000-43311600	Weak transcription	NH-A	brain
41	chr5:43302200-43309800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:43302400-43308200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:43302400-43309200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:43302600-43306400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr5:43302600-43309600	Weak transcription	Primary T cells from cord blood	blood
46	chr5:43302800-43309600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr5:43303000-43306400	Weak transcription	Brain Germinal Matrix	brain
48	chr5:43303000-43306400	Weak transcription	Stomach Mucosa	stomach
49	chr5:43303000-43309400	Weak transcription	Left Ventricle	heart
50	chr5:43303000-43309400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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