Variant report

Variant	rs4714812
Chromosome Location	chr6:44700714-44700715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44700126..44702193-chr6:45390797..45392676,2	MCF-7	breast:
2	chr6:44691206..44694141-chr6:44700242..44701897,2	K562	blood:
3	chr6:44700427..44702509-chr6:45388476..45390408,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271857	Chromatin interaction
ENSG00000124813	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs12192367	0.89[JPT][hapmap]
rs12529522	1.00[ASW][hapmap];0.88[CHB][hapmap]
rs12530016	0.88[CHB][hapmap]
rs13202672	0.82[AMR][1000 genomes]
rs13206206	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13206526	0.94[CHB][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes]
rs1402599	0.94[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs1418435	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16869119	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs1935549	0.85[AMR][1000 genomes]
rs2139863	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes]
rs227830	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs227832	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs227833	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs227835	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs227836	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs227839	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs227840	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs227844	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs227845	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs227849	0.90[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs227852	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs227853	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs227857	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34243039	0.82[AMR][1000 genomes]
rs34577161	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34776198	0.90[AMR][1000 genomes]
rs35376827	0.94[ASN][1000 genomes]
rs35856781	0.82[AMR][1000 genomes]
rs3799965	1.00[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs3799966	0.85[AMR][1000 genomes]
rs3799967	0.81[JPT][hapmap]
rs3799968	0.89[CHD][hapmap]
rs3799972	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs3799974	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs3823252	1.00[CHB][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes]
rs3997503	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4711797	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4714825	0.85[AMR][1000 genomes]
rs4714827	0.81[AMR][1000 genomes]
rs524492	0.94[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs542444	1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap]
rs562016	0.81[AMR][1000 genomes]
rs609643	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs609699	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6904015	0.82[JPT][hapmap]
rs6919161	0.94[CHB][hapmap]
rs720988	0.90[AMR][1000 genomes]
rs720989	0.87[AMR][1000 genomes]
rs72664272	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7746032	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7769218	1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs9369514	0.87[CHD][hapmap]
rs9463017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9463039	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9463040	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9472331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472335	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9472376	0.80[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4714812	SUPT3H	cis	multi-tissue	Pritchard
rs4714812	UNC5CL	cis	cerebellum	SCAN
rs4714812	SPATS1	cis	cerebellum	SCAN
rs4714812	SUPT3H	cis	cerebellum	SCAN
rs4714812	SUPT3H	cis	lymphoblastoid	seeQTL
rs4714812	SUPT3H	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44695800-44701000	Weak transcription	Pancreas	Pancrea
2	chr6:44695800-44703600	Weak transcription	Esophagus	oesophagus
3	chr6:44696000-44706000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:44697800-44704200	Enhancers	Colon Smooth Muscle	Colon
5	chr6:44698200-44703800	Enhancers	Placenta	Placenta
6	chr6:44698600-44701200	Weak transcription	Fetal Lung	lung
7	chr6:44698600-44701200	Weak transcription	GM12878-XiMat	blood
8	chr6:44699200-44701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:44699200-44703200	Enhancers	Fetal Muscle Leg	muscle
10	chr6:44699400-44701400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:44699400-44701800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:44699600-44701000	Weak transcription	Fetal Stomach	stomach
13	chr6:44699600-44701400	Weak transcription	Colonic Mucosa	Colon
14	chr6:44699800-44701000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:44699800-44701600	Weak transcription	Fetal Kidney	kidney
16	chr6:44699800-44702600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:44699800-44703400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:44700000-44701000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:44700000-44701400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:44700000-44701400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:44700200-44701000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr6:44700400-44701400	Weak transcription	HSMMtube	muscle
23	chr6:44700600-44701000	Weak transcription	Fetal Muscle Trunk	muscle

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