Variant report

Variant	rs857148
Chromosome Location	chr1:57175158-57175159
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:56874466..56875023-chr1:57174644..57175624,2	K562	blood:
2	chr1:55750589..55751527-chr1:57174232..57175597,4	K562	blood:
3	chr1:57174557..57176928-chr1:57179805..57181791,3	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10789038	0.89[CEU][hapmap]
rs10889008	0.85[CEU][hapmap]
rs10889010	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11206889	0.81[CEU][hapmap]
rs11206890	0.85[CEU][hapmap]
rs11206899	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11206900	0.94[AMR][1000 genomes]
rs1124900	0.92[CEU][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs12070903	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12072057	0.80[EUR][1000 genomes]
rs2064421	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2064422	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2092594	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2092595	0.92[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2143754	0.92[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.87[LWK][hapmap];0.86[MKK][hapmap];0.89[TSI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2245475	0.83[EUR][1000 genomes]
rs2746338	0.92[CEU][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2746339	0.92[CEU][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2746348	0.88[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs2746349	0.92[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs2796491	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2796492	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2796493	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2796495	0.92[CEU][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2796496	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2796498	0.92[CEU][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2796499	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2796506	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2796507	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2796509	0.92[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2796511	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2796512	0.92[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2796514	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2796519	0.85[CEU][hapmap]
rs2796534	0.84[CEU][hapmap];0.85[JPT][hapmap];0.82[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2796541	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6588643	0.84[EUR][1000 genomes]
rs6671760	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6683935	0.84[EUR][1000 genomes]
rs715404	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs715405	0.92[CEU][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7366969	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7367181	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7367199	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7415042	0.92[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.88[YRI][hapmap];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7419053	0.82[CEU][hapmap]
rs7515414	0.82[CEU][hapmap]
rs857132	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs857147	0.92[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs857150	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs857155	1.00[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs857156	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs857159	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs932447	0.81[CEU][hapmap]
rs963528	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv523032	chr1:57116909-57249558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	esv1831276	chr1:57139370-57175158	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	nsv520726	chr1:57143986-57205666	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57162800-57176200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:57166200-57178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:57166600-57175600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:57166600-57175600	Weak transcription	Right Ventricle	heart
5	chr1:57170000-57175200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:57170000-57181200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:57170200-57175200	Weak transcription	Fetal Heart	heart
8	chr1:57170200-57175200	Weak transcription	Ovary	ovary
9	chr1:57170200-57175800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:57170200-57176000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:57170200-57176400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:57170200-57185000	Weak transcription	Liver	Liver
13	chr1:57170400-57176200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:57171600-57175200	Weak transcription	NH-A	brain
15	chr1:57171800-57175400	Weak transcription	NHLF	lung
16	chr1:57172000-57176000	Weak transcription	Hela-S3	cervix
17	chr1:57172400-57175800	Weak transcription	HepG2	liver
18	chr1:57172600-57175200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:57172800-57176400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:57173400-57176000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:57173400-57181400	Weak transcription	Left Ventricle	heart
22	chr1:57173400-57184200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:57173800-57175400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:57173800-57175400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:57173800-57175400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:57173800-57176000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:57174400-57176200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:57174600-57176000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:57174800-57175600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:57174800-57177200	Enhancers	A549	lung
31	chr1:57174800-57177400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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