Variant report

Variant	rs1441236
Chromosome Location	chr15:57137075-57137076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:57137063-57137317	H1-hESC	embryonic stem cell:	n/a	chr15:57137209-57137219 chr15:57137189-57137199
2	MAX	chr15:57137057-57137352	NB4	blood:	n/a	chr15:57137209-57137219 chr15:57137189-57137199

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57131930..57134243-chr15:57135173..57137568,2	K562	blood:

Variant related genes	Relation type
ENSG00000225625	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1012321	0.93[EUR][1000 genomes]
rs10450961	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10518878	0.82[EUR][1000 genomes]
rs10851612	0.82[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.80[ASN][1000 genomes]
rs1115019	0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1158246	0.80[ASN][1000 genomes]
rs11855646	0.89[EUR][1000 genomes]
rs11858368	0.90[EUR][1000 genomes]
rs12324092	0.83[TSI][hapmap]
rs13379960	0.96[EUR][1000 genomes]
rs1430819	0.95[EUR][1000 genomes]
rs1430820	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1430822	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs1629339	0.85[ASN][1000 genomes]
rs1647385	0.87[ASN][1000 genomes]
rs1647392	1.00[CEU][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1652744	0.94[ASN][1000 genomes]
rs1652746	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1652747	0.85[ASN][1000 genomes]
rs1652748	0.85[ASN][1000 genomes]
rs1657922	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.83[ASN][1000 genomes]
rs1657927	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1657934	0.94[CEU][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs1660951	0.80[EUR][1000 genomes]
rs1660958	0.84[ASN][1000 genomes]
rs1660961	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1660963	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1660964	0.93[ASN][1000 genomes]
rs16977153	0.87[CHB][hapmap]
rs17415731	0.86[CHB][hapmap]
rs1967352	0.87[EUR][1000 genomes]
rs1967353	0.87[EUR][1000 genomes]
rs2161933	0.94[EUR][1000 genomes]
rs2163369	0.95[EUR][1000 genomes]
rs2278613	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2414487	0.89[EUR][1000 genomes]
rs28371400	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28468978	0.91[EUR][1000 genomes]
rs28568712	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28609621	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28736360	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28874022	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4313751	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4774245	0.87[CHB][hapmap]
rs56965085	0.87[EUR][1000 genomes]
rs6493886	0.82[CEU][hapmap]
rs6493892	0.80[AMR][1000 genomes]
rs6493893	1.00[CEU][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6493894	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67114210	0.92[EUR][1000 genomes]
rs67278720	0.86[EUR][1000 genomes]
rs67622899	0.92[EUR][1000 genomes]
rs68083905	0.90[EUR][1000 genomes]
rs7162194	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs7163302	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7164655	0.83[CHB][hapmap]
rs7167847	0.81[EUR][1000 genomes]
rs7175191	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs7178833	0.83[CHB][hapmap]
rs72747165	0.91[EUR][1000 genomes]
rs7359253	0.94[CEU][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs8023343	0.85[CHB][hapmap]
rs8026149	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8031640	0.82[JPT][hapmap]
rs8032615	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs8034066	0.86[CHB][hapmap]
rs8035485	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs8039899	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs8040866	0.95[EUR][1000 genomes]
rs8042606	0.87[EUR][1000 genomes]
rs9302200	0.83[TSI][hapmap]
rs9919955	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv833020	chr15:57055947-57216068	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv457162	chr15:57083006-57225766	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv569577	chr15:57083006-57225766	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv827344	chr15:57132604-57139103	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1441236	TCF12	Cis_1M	lymphoblastoid	RTeQTL
rs1441236	MAPK6	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57110000-57138600	Weak transcription	Left Ventricle	heart
2	chr15:57125400-57140400	Weak transcription	Brain Angular Gyrus	brain
3	chr15:57125400-57141000	Weak transcription	Fetal Lung	lung
4	chr15:57125400-57141000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr15:57128200-57140400	Weak transcription	Brain Anterior Caudate	brain
6	chr15:57128200-57158600	Weak transcription	Ovary	ovary
7	chr15:57128400-57140000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:57128400-57140400	Weak transcription	Right Ventricle	heart
9	chr15:57129400-57137400	Weak transcription	Fetal Kidney	kidney
10	chr15:57129400-57142600	Weak transcription	Fetal Muscle Leg	muscle
11	chr15:57131000-57141000	Weak transcription	Adipose Nuclei	Adipose
12	chr15:57135400-57164000	Weak transcription	Aorta	Aorta
13	chr15:57136800-57137200	Enhancers	HepG2	liver
14	chr15:57136800-57137400	Enhancers	K562	blood
15	chr15:57136800-57137600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr15:57136800-57137600	Enhancers	Dnd41	blood
17	chr15:57137000-57137200	Enhancers	Fetal Intestine Small	intestine
18	chr15:57137000-57137200	Enhancers	Sigmoid Colon	Sigmoid Colon

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