Variant report

Variant	rs1593971
Chromosome Location	chr5:43413444-43413445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43408350..43414682-chr5:43482713..43485961,9	MCF-7	breast:
2	chr5:43395706..43398028-chr5:43412212..43414366,2	MCF-7	breast:
3	chr5:43410262..43414589-chr5:43481541..43486559,6	K562	blood:
4	chr5:43410322..43414589-chr5:43481701..43485572,7	K562	blood:
5	chr5:43413385..43415029-chr5:43421683..43423950,2	MCF-7	breast:

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

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10036954	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs10038545	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10053229	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10054519	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10055801	1.00[CEU][hapmap];0.85[JPT][hapmap];0.84[YRI][hapmap]
rs10059993	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs10065689	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs10066408	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10068064	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10074682	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs10462051	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs10472380	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10473310	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11742171	0.83[JPT][hapmap]
rs11949083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs12521249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs1366410	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs1389868	0.92[JPT][hapmap]
rs1389870	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2131998	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2132001	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2132003	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3776423	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs3806870	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs4072918	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap]
rs4072919	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap]
rs4074777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4386738	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap]
rs4467713	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs4535459	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4866833	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs56333629	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57403343	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6451695	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs6451696	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs6451697	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6451699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6451705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66495712	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6860493	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs6862102	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs6866325	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs6870018	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs6878770	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6884661	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs6885679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap]
rs6895327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6896693	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72756535	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73100614	0.82[ASN][1000 genomes]
rs750583	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]
rs754301	0.82[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs7703662	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs7705166	0.85[CHB][hapmap]
rs7710628	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes]
rs7713479	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs7715782	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs7718627	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7732140	0.86[AMR][1000 genomes]
rs7732656	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs7736108	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1593971	NNT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43402200-43420200	Weak transcription	Gastric	stomach
2	chr5:43409000-43413800	Enhancers	Fetal Intestine Small	intestine
3	chr5:43410200-43414800	Enhancers	Placenta	Placenta
4	chr5:43411200-43418200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:43412400-43414200	Weak transcription	K562	blood
6	chr5:43412600-43413600	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr5:43412600-43414600	Enhancers	Stomach Mucosa	stomach
8	chr5:43412600-43420400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:43412600-43421600	Weak transcription	Pancreas	Pancrea
10	chr5:43412800-43413800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr5:43413200-43415800	Weak transcription	Hela-S3	cervix
12	chr5:43413400-43416800	Weak transcription	Duodenum Mucosa	Duodenum

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