Variant report

Variant	rs1974547
Chromosome Location	chr7:40844463-40844464
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	EP300	chr7:40844198-40844581	SK-N-SH_RA	brain:	n/a	n/a
2	PBX3	chr7:40844017-40845582	SK-N-SH	brain:	n/a	n/a
3	EP300	chr7:40844031-40844514	SK-N-SH_RA	brain:	n/a	n/a
4	POLR2A	chr7:40843871-40844821	SK-N-SH	brain:	n/a	n/a
5	TCF12	chr7:40843891-40845419	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
SUGCT	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1006376	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10225209	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10225445	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10226900	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10231324	0.93[ASN][1000 genomes]
rs10231545	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10243080	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10252053	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10268219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272186	0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs10272516	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10276001	0.92[ASN][1000 genomes]
rs10276629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1029620	0.83[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs10951639	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1115714	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1115715	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs1203569	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1203570	0.81[EUR][1000 genomes]
rs1203573	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs1203575	0.81[EUR][1000 genomes]
rs12666544	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs12701835	0.93[ASN][1000 genomes]
rs12701836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237870	0.94[ASN][1000 genomes]
rs13240894	0.89[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1733483	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs17530165	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs17530213	0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs17621030	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs17688285	0.93[ASN][1000 genomes]
rs17688414	0.94[ASN][1000 genomes]
rs17770843	0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs17770991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1921743	0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs1921745	0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs1921746	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1921747	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1921748	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2302025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302026	0.84[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs2329877	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs35146091	0.94[ASN][1000 genomes]
rs35570092	0.94[ASN][1000 genomes]
rs35628600	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35712272	0.94[ASN][1000 genomes]
rs35995194	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs36200804	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3815265	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4050963	0.93[ASN][1000 genomes]
rs4460274	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs59027414	0.82[ASN][1000 genomes]
rs62449401	0.94[ASN][1000 genomes]
rs62449405	0.85[ASN][1000 genomes]
rs62449407	0.85[ASN][1000 genomes]
rs68023334	0.94[ASN][1000 genomes]
rs723838	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs73125791	0.85[ASN][1000 genomes]
rs763714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7784052	0.84[ASN][1000 genomes]
rs7801192	0.93[ASN][1000 genomes]
rs7804009	0.94[ASN][1000 genomes]
rs7807596	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7808211	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs886831	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830972	chr7:40814709-40945917	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv830973	chr7:40816419-40851594	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1974547	INHBA	cis	Nerve Tibial	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40835400-40847800	Weak transcription	Aorta	Aorta
2	chr7:40839800-40844600	Weak transcription	Fetal Stomach	stomach
3	chr7:40841000-40844600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:40841000-40844600	Weak transcription	HSMMtube	muscle
5	chr7:40842400-40847200	Weak transcription	Ovary	ovary
6	chr7:40842400-40847600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:40842400-40847800	Weak transcription	HMEC	breast
8	chr7:40843400-40844600	Weak transcription	Colonic Mucosa	Colon
9	chr7:40843600-40844600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr7:40843600-40850000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:40844000-40845600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:40844000-40846000	Enhancers	Osteobl	bone
13	chr7:40844200-40845400	Flanking Active TSS	NHDF-Ad	bronchial
14	chr7:40844200-40845600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:40844200-40845600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:40844200-40845600	Enhancers	NHLF	lung
17	chr7:40844200-40848600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:40844400-40844600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:40844400-40844600	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr7:40844400-40845000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr7:40844400-40845200	Enhancers	Brain Anterior Caudate	brain
22	chr7:40844400-40845400	Enhancers	Brain Substantia Nigra	brain
23	chr7:40844400-40845400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr7:40844400-40850600	Enhancers	HSMM	muscle

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