Variant report

Variant	rs10914022
Chromosome Location	chr1:180503394-180503395
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180496778..180499562-chr1:180501152..180503837,3	K562	blood:
2	chr1:180502356..180503796-chr1:180600630..180602287,6	MCF-7	breast:
3	chr1:180501965..180504289-chr1:180591221..180593705,2	MCF-7	breast:
4	chr1:180501690..180504014-chr1:180594287..180597051,2	K562	blood:
5	chr1:180502057..180505158-chr1:180505270..180507785,3	K562	blood:
6	chr1:180469975..180472842-chr1:180501500..180503643,2	MCF-7	breast:
7	chr1:180501736..180504580-chr1:180849617..180851202,2	K562	blood:
8	chr1:180502336..180503715-chr1:180832075..180833404,11	K562	blood:
9	chr1:180502426..180503404-chr1:180747989..180748600,2	MCF-7	breast:
10	chr1:180502690..180506275-chr1:180600837..180603049,4	MCF-7	breast:
11	chr1:180501651..180503663-chr1:180510175..180512721,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135847	Chromatin interaction
ENSG00000143324	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10913975	0.82[CHB][hapmap];0.97[CHD][hapmap];0.84[JPT][hapmap]
rs10913977	0.93[JPT][hapmap]
rs10914021	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10914035	0.88[EUR][1000 genomes]
rs10914036	0.81[CEU][hapmap]
rs10914038	0.87[EUR][1000 genomes]
rs12027839	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12027878	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12039331	0.85[CEU][hapmap]
rs12044653	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12045365	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12403226	0.87[CHB][hapmap]
rs12407684	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13374104	0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs13374665	1.00[CEU][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs13376342	0.86[EUR][1000 genomes]
rs1416822	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs16856127	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[EUR][1000 genomes]
rs17300340	1.00[CEU][hapmap];0.92[TSI][hapmap]
rs17300579	1.00[CEU][hapmap];0.92[TSI][hapmap]
rs17300600	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17300712	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17372295	1.00[CEU][hapmap]
rs17372362	1.00[CEU][hapmap];0.92[TSI][hapmap]
rs17372667	0.86[EUR][1000 genomes]
rs2877481	0.81[ASN][1000 genomes]
rs28816398	0.83[EUR][1000 genomes]
rs4405110	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4446932	0.92[EUR][1000 genomes]
rs4651065	0.86[EUR][1000 genomes]
rs4652509	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56759227	0.81[EUR][1000 genomes]
rs57537558	0.92[EUR][1000 genomes]
rs58047798	0.92[EUR][1000 genomes]
rs58089956	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59022209	0.86[EUR][1000 genomes]
rs60927564	0.91[EUR][1000 genomes]
rs6425643	0.90[EUR][1000 genomes]
rs6425646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6684596	0.88[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap]
rs6694454	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6697232	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6702245	0.81[EUR][1000 genomes]
rs72714847	0.81[EUR][1000 genomes]
rs72714855	0.81[EUR][1000 genomes]
rs72714856	0.81[EUR][1000 genomes]
rs72714861	0.81[EUR][1000 genomes]
rs72714864	0.81[EUR][1000 genomes]
rs72714866	0.81[EUR][1000 genomes]
rs72714870	0.81[EUR][1000 genomes]
rs72714877	0.81[EUR][1000 genomes]
rs72714879	0.81[EUR][1000 genomes]
rs72714887	0.81[EUR][1000 genomes]
rs72714902	0.81[EUR][1000 genomes]
rs72716607	0.83[EUR][1000 genomes]
rs72716615	0.83[EUR][1000 genomes]
rs72716616	0.83[EUR][1000 genomes]
rs72716625	0.86[EUR][1000 genomes]
rs72716627	0.85[EUR][1000 genomes]
rs72716629	0.86[EUR][1000 genomes]
rs72716632	0.86[EUR][1000 genomes]
rs72720914	0.92[EUR][1000 genomes]
rs74132851	0.81[EUR][1000 genomes]
rs74135185	0.82[EUR][1000 genomes]
rs7513944	0.81[CEU][hapmap];0.88[GIH][hapmap]
rs7517775	1.00[CEU][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs7525689	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541993	0.81[CEU][hapmap]
rs7546119	0.81[CEU][hapmap]
rs7547266	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7551178	0.81[CEU][hapmap]
rs7552084	0.88[GIH][hapmap]
rs946631	0.81[CEU][hapmap]
rs946636	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs961162	0.91[EUR][1000 genomes]
rs9650999	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10914022	ACBD6	cis	parietal	SCAN
rs10914022	FAM163A	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180491600-180511200	Weak transcription	Psoas Muscle	Psoas
2	chr1:180494400-180508200	Weak transcription	Right Ventricle	heart
3	chr1:180495000-180503800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:180496600-180508000	Weak transcription	Right Atrium	heart
5	chr1:180496800-180503600	Weak transcription	Left Ventricle	heart
6	chr1:180497800-180511200	Weak transcription	Aorta	Aorta
7	chr1:180500000-180503400	Weak transcription	Osteobl	bone
8	chr1:180500000-180505200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:180500000-180511200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:180500200-180503400	Weak transcription	HMEC	breast
11	chr1:180500600-180505600	Weak transcription	Placenta	Placenta
12	chr1:180502200-180503800	Enhancers	Fetal Brain Female	brain
13	chr1:180502400-180503600	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:180502400-180503600	Enhancers	Brain Germinal Matrix	brain
15	chr1:180502400-180503800	Enhancers	Fetal Brain Male	brain
16	chr1:180502400-180503800	Enhancers	Fetal Heart	heart
17	chr1:180502600-180506000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:180502600-180506200	Enhancers	K562	blood
19	chr1:180502800-180506000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:180502800-180506600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:180503000-180503400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:180503000-180503400	Enhancers	Adipose Nuclei	Adipose
23	chr1:180503000-180503600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:180503000-180504000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:180503200-180503400	Enhancers	HepG2	liver
26	chr1:180503200-180503600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr1:180503200-180503600	Weak transcription	Pancreas	Pancrea
28	chr1:180503200-180503800	Enhancers	Brain Angular Gyrus	brain
29	chr1:180503200-180503800	Enhancers	Brain Hippocampus Middle	brain
30	chr1:180503200-180503800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:180503200-180504000	Enhancers	Brain Anterior Caudate	brain
32	chr1:180503200-180508000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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