Variant report

Variant	rs10914023
Chromosome Location	chr1:180503573-180503574
allele	A/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 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	chr1:180502690..180506275-chr1:180600837..180603049,4	MCF-7	breast:
10	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: 91 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10158367	0.82[EUR][1000 genomes]
rs10465516	0.82[EUR][1000 genomes]
rs10494527	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap]
rs10737342	0.80[CHD][hapmap];0.81[JPT][hapmap]
rs10753209	1.00[CEU][hapmap]
rs10753211	1.00[CEU][hapmap]
rs10753212	0.82[EUR][1000 genomes]
rs10753216	0.91[EUR][1000 genomes]
rs10798759	1.00[CEU][hapmap];0.86[GIH][hapmap];0.93[TSI][hapmap]
rs10798761	0.80[CHD][hapmap];0.81[JPT][hapmap]
rs10798762	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap]
rs10798767	0.81[JPT][hapmap]
rs10798769	1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[EUR][1000 genomes]
rs10798770	0.86[EUR][1000 genomes]
rs10798771	0.87[EUR][1000 genomes]
rs10798775	0.87[EUR][1000 genomes]
rs10913980	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap]
rs10913981	1.00[CEU][hapmap]
rs10913984	0.84[CEU][hapmap]
rs10913985	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap]
rs10913987	1.00[CEU][hapmap]
rs10914001	0.82[EUR][1000 genomes]
rs10914002	0.81[JPT][hapmap]
rs10914005	1.00[CEU][hapmap];0.86[GIH][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs10914007	0.82[JPT][hapmap]
rs10914010	0.82[EUR][1000 genomes]
rs10914014	0.87[EUR][1000 genomes]
rs10914016	0.88[EUR][1000 genomes]
rs10914017	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs10914018	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[GIH][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs10914028	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10914036	0.85[CHB][hapmap]
rs11580793	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11799870	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12024201	0.96[CEU][hapmap];0.90[CHB][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12034217	1.00[CEU][hapmap]
rs12039331	0.84[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs12121043	0.83[EUR][1000 genomes]
rs12127886	0.81[EUR][1000 genomes]
rs12131071	0.82[EUR][1000 genomes]
rs12132837	0.80[EUR][1000 genomes]
rs12135463	0.82[EUR][1000 genomes]
rs12136111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141348	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs12141848	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12561776	0.82[EUR][1000 genomes]
rs12565492	1.00[CEU][hapmap];0.81[CHB][hapmap];0.98[GIH][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs12691484	0.80[CHD][hapmap];0.81[JPT][hapmap]
rs12730889	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1416821	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1418102	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs1538622	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1934410	0.87[EUR][1000 genomes]
rs2105232	0.87[EUR][1000 genomes]
rs3737584	0.82[CHD][hapmap]
rs4076403	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap]
rs4142992	0.80[EUR][1000 genomes]
rs4418555	0.81[EUR][1000 genomes]
rs4421553	1.00[CEU][hapmap]
rs4442335	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap]
rs4483365	0.80[CHD][hapmap];0.81[JPT][hapmap]
rs4578179	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap]
rs4642852	0.80[CHD][hapmap];0.81[JPT][hapmap]
rs4651064	0.82[EUR][1000 genomes]
rs4652496	0.81[JPT][hapmap]
rs4652498	0.81[JPT][hapmap]
rs4652499	0.81[JPT][hapmap]
rs4652505	1.00[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs6425625	0.80[CHD][hapmap];0.81[JPT][hapmap]
rs6425644	0.81[CHB][hapmap];0.85[ASN][1000 genomes]
rs6425645	0.85[ASN][1000 genomes]
rs6661208	0.81[JPT][hapmap]
rs6670544	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs6674244	0.81[EUR][1000 genomes]
rs6680368	0.80[CHD][hapmap];0.81[JPT][hapmap]
rs6697924	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6699076	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs6700986	0.81[EUR][1000 genomes]
rs7513944	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs7523857	0.81[EUR][1000 genomes]
rs7528650	1.00[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs7532806	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs7540276	1.00[CEU][hapmap];0.90[CHB][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7541993	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs7543366	1.00[CEU][hapmap];0.90[CHB][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7546119	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs7551178	0.90[CHB][hapmap]
rs7552084	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs946631	0.90[CHB][hapmap];0.81[JPT][hapmap]

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
rs10914023	RNASEL	cis	cerebellum	SCAN
rs10914023	ACBD6	cis	parietal	SCAN

Chromatin state (count:29 , 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	chr1:180500000-180505200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:180500000-180511200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:180500600-180505600	Weak transcription	Placenta	Placenta
10	chr1:180502200-180503800	Enhancers	Fetal Brain Female	brain
11	chr1:180502400-180503600	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:180502400-180503600	Enhancers	Brain Germinal Matrix	brain
13	chr1:180502400-180503800	Enhancers	Fetal Brain Male	brain
14	chr1:180502400-180503800	Enhancers	Fetal Heart	heart
15	chr1:180502600-180506000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:180502600-180506200	Enhancers	K562	blood
17	chr1:180502800-180506000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:180502800-180506600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:180503000-180503600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:180503000-180504000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:180503200-180503600	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr1:180503200-180503600	Weak transcription	Pancreas	Pancrea
23	chr1:180503200-180503800	Enhancers	Brain Angular Gyrus	brain
24	chr1:180503200-180503800	Enhancers	Brain Hippocampus Middle	brain
25	chr1:180503200-180503800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:180503200-180504000	Enhancers	Brain Anterior Caudate	brain
27	chr1:180503200-180508000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:180503400-180503600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:180503400-180504000	Enhancers	HMEC	breast

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