Variant report

Variant	rs7712723
Chromosome Location	chr5:43430259-43430260
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43395606..43397205-chr5:43429947..43432661,2	MCF-7	breast:
2	chr5:43421006..43424016-chr5:43430085..43432621,4	MCF-7	breast:
3	chr5:43429044..43431597-chr5:43483560..43485398,2	K562	blood:
4	chr5:43424455..43437851-chr5:43481449..43486495,21	MCF-7	breast:
5	chr5:43425564..43427749-chr5:43427854..43431267,3	MCF-7	breast:
6	chr5:43065664..43067789-chr5:43427695..43430360,2	MCF-7	breast:
7	chr5:43401279..43403730-chr5:43426630..43430276,3	MCF-7	breast:
8	chr5:43415058..43417712-chr5:43429941..43433858,3	MCF-7	breast:
9	chr5:43425434..43428168-chr5:43429895..43432918,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151881	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000177738	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16873327	1.00[CEU][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16873406	1.00[CEU][hapmap];0.88[YRI][hapmap]
rs6451694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6867927	1.00[CEU][hapmap]
rs6873555	1.00[CEU][hapmap];0.86[YRI][hapmap]
rs6885326	0.86[AFR][1000 genomes]
rs6890108	0.85[YRI][hapmap]
rs6890419	1.00[CEU][hapmap]
rs6896527	1.00[CEU][hapmap]
rs6897816	1.00[CEU][hapmap]
rs7700826	1.00[CEU][hapmap];0.86[YRI][hapmap]
rs7715976	1.00[CEU][hapmap]
rs7716564	1.00[CEU][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs7728139	1.00[CEU][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7712723	Hs.482037	cis	multi-tissue	Pritchard
rs7712723	NNT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43419000-43432600	Weak transcription	Colonic Mucosa	Colon
2	chr5:43422000-43432600	Weak transcription	Pancreas	Pancrea
3	chr5:43422800-43432800	Weak transcription	NH-A	brain
4	chr5:43425600-43430400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:43425800-43430400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:43425800-43430400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:43425800-43430400	Enhancers	HMEC	breast
8	chr5:43425800-43430400	Enhancers	NHEK	skin
9	chr5:43426400-43443600	Weak transcription	Esophagus	oesophagus
10	chr5:43427000-43432800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:43428600-43431400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:43428800-43430400	Enhancers	Hela-S3	cervix
13	chr5:43428800-43432200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:43428800-43432200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:43428800-43432400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:43428800-43432400	Weak transcription	Fetal Lung	lung
17	chr5:43428800-43432400	Weak transcription	Osteobl	bone
18	chr5:43428800-43432600	Weak transcription	NHLF	lung
19	chr5:43429200-43430400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:43429400-43431600	Weak transcription	Placenta	Placenta
21	chr5:43429400-43432000	Weak transcription	A549	lung
22	chr5:43429400-43432200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:43429400-43432200	Weak transcription	Liver	Liver
24	chr5:43429400-43432400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:43429400-43460200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:43430000-43431200	Weak transcription	HepG2	liver
27	chr5:43430200-43430400	Enhancers	Gastric	stomach
28	chr5:43430200-43430400	Enhancers	Stomach Mucosa	stomach
29	chr5:43430200-43432200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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