Variant report

Variant	rs750583
Chromosome Location	chr5:43430295-43430296
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 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	chr5:43415058..43417712-chr5:43429941..43433858,3	MCF-7	breast:
8	chr5:43425434..43428168-chr5:43429895..43432918,3	K562	blood:

No data

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

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10036954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10038545	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10053229	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10054519	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10055801	1.00[CEU][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap]
rs10059993	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10065689	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10066408	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10068064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10074682	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10462051	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10472380	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10473310	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10473311	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11742171	0.83[JPT][hapmap]
rs11949083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12187908	0.85[JPT][hapmap]
rs12521249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1366410	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1389868	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1389869	0.96[ASN][1000 genomes]
rs1389870	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1593971	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2131998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2132001	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2132003	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28437972	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3776423	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3806870	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs4072918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[EUR][1000 genomes]
rs4072919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[EUR][1000 genomes]
rs4074777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4386738	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs4467713	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4535459	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4866822	0.80[JPT][hapmap]
rs4866833	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55855322	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56333629	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57403343	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57547662	0.96[ASN][1000 genomes]
rs6451693	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6451695	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6451696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6451697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6451698	0.86[JPT][hapmap]
rs6451699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6451704	0.88[ASN][1000 genomes]
rs6451705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66495712	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67466542	0.81[ASN][1000 genomes]
rs6858942	0.88[ASN][1000 genomes]
rs6860493	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6862102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6866325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6870018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6878770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6884661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6885679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6895327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6896693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72756535	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73100614	0.98[ASN][1000 genomes]
rs754301	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs7703662	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs7705166	0.85[CHB][hapmap]
rs7708779	0.81[JPT][hapmap]
rs7710628	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7713479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7715782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7718627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7732140	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7732656	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7736108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs750583	NNT	cis	multi-tissue	Pritchard
rs750583	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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