Variant report

Variant	rs62310789
Chromosome Location	chr4:79690304-79690305
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79686100..79693924-chr4:79694940..79698947,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260278	Chromatin interaction
ENSG00000138756	Chromatin interaction

Extended variants
information (count: 181 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:179)

rs_ID	r²[population]
rs10005471	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10010709	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10027127	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10213354	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10518201	0.93[ASN][1000 genomes]
rs10518202	0.98[ASN][1000 genomes]
rs10518205	0.86[ASN][1000 genomes]
rs10518206	0.89[ASN][1000 genomes]
rs10518208	0.86[ASN][1000 genomes]
rs10518209	0.86[ASN][1000 genomes]
rs12641797	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12643807	0.88[ASN][1000 genomes]
rs12644278	0.98[ASN][1000 genomes]
rs12644502	0.89[ASN][1000 genomes]
rs12644685	0.89[ASN][1000 genomes]
rs12645310	0.89[ASN][1000 genomes]
rs12647482	0.89[ASN][1000 genomes]
rs12647524	0.89[ASN][1000 genomes]
rs12647653	0.89[ASN][1000 genomes]
rs12648219	0.94[ASN][1000 genomes]
rs12648396	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648450	0.88[ASN][1000 genomes]
rs12649750	0.86[ASN][1000 genomes]
rs12649863	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12649978	0.86[ASN][1000 genomes]
rs12650337	0.89[ASN][1000 genomes]
rs1426137	0.89[ASN][1000 genomes]
rs1426139	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1564458	0.86[ASN][1000 genomes]
rs16997408	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17003427	0.85[ASN][1000 genomes]
rs17003443	0.94[ASN][1000 genomes]
rs17003450	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17003451	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17003453	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17003454	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17003464	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17003465	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17003472	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17003478	0.89[ASN][1000 genomes]
rs17003479	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17003488	0.89[ASN][1000 genomes]
rs17003489	0.87[ASN][1000 genomes]
rs17003492	0.89[ASN][1000 genomes]
rs17003499	0.84[ASN][1000 genomes]
rs17003500	0.84[ASN][1000 genomes]
rs17003503	0.84[ASN][1000 genomes]
rs17003504	0.86[ASN][1000 genomes]
rs17003511	0.86[ASN][1000 genomes]
rs17008951	0.82[ASN][1000 genomes]
rs1834517	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1972691	1.00[ASN][1000 genomes]
rs1978552	0.94[ASN][1000 genomes]
rs2033060	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2033061	0.84[ASN][1000 genomes]
rs2033062	0.86[ASN][1000 genomes]
rs2033063	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2114203	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127781	0.86[ASN][1000 genomes]
rs2162228	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2170243	0.86[ASN][1000 genomes]
rs2288255	0.86[ASN][1000 genomes]
rs2291181	0.84[ASN][1000 genomes]
rs2306443	0.86[ASN][1000 genomes]
rs28372745	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28410307	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28411173	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28489278	0.84[ASN][1000 genomes]
rs28499303	0.93[ASN][1000 genomes]
rs28515480	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28579738	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28587143	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28621590	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28719734	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2903591	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35741786	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775513	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3775514	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3775515	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3775516	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775518	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775519	1.00[ASN][1000 genomes]
rs3775522	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775525	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796681	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3796682	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3811766	0.86[ASN][1000 genomes]
rs3822107	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3822108	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41418051	1.00[ASN][1000 genomes]
rs41509244	0.86[ASN][1000 genomes]
rs4432766	0.94[ASN][1000 genomes]
rs4550959	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4637427	0.86[ASN][1000 genomes]
rs56802690	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57011679	0.94[ASN][1000 genomes]
rs57429247	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57574345	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57707267	0.94[ASN][1000 genomes]
rs57767544	0.84[ASN][1000 genomes]
rs58634945	0.93[ASN][1000 genomes]
rs58761040	0.84[ASN][1000 genomes]
rs59030520	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59707131	0.84[ASN][1000 genomes]
rs59994556	0.93[ASN][1000 genomes]
rs60830908	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60981779	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61073409	0.89[ASN][1000 genomes]
rs61193392	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61470194	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61671866	0.82[ASN][1000 genomes]
rs62307961	0.86[ASN][1000 genomes]
rs62307962	0.86[ASN][1000 genomes]
rs62307963	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62307964	0.86[ASN][1000 genomes]
rs62307966	0.86[ASN][1000 genomes]
rs62307967	0.89[ASN][1000 genomes]
rs62307968	0.89[ASN][1000 genomes]
rs62307994	0.88[ASN][1000 genomes]
rs62307995	0.85[ASN][1000 genomes]
rs62307996	0.85[ASN][1000 genomes]
rs62308000	0.84[ASN][1000 genomes]
rs62308001	0.84[ASN][1000 genomes]
rs62308002	0.86[ASN][1000 genomes]
rs62308004	0.86[ASN][1000 genomes]
rs62308006	0.86[ASN][1000 genomes]
rs62308007	0.86[ASN][1000 genomes]
rs62308009	0.86[ASN][1000 genomes]
rs62308010	0.86[ASN][1000 genomes]
rs62308011	0.86[ASN][1000 genomes]
rs62308012	0.86[ASN][1000 genomes]
rs62308013	0.86[ASN][1000 genomes]
rs62308042	0.86[ASN][1000 genomes]
rs62308350	0.93[ASN][1000 genomes]
rs62308353	0.94[ASN][1000 genomes]
rs62308358	0.94[ASN][1000 genomes]
rs62310760	0.93[ASN][1000 genomes]
rs62310763	1.00[ASN][1000 genomes]
rs62310790	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310793	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310795	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310796	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62310800	1.00[ASN][1000 genomes]
rs62310803	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310804	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310806	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62310809	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62310810	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62310811	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62310843	0.86[ASN][1000 genomes]
rs6534005	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6814884	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6828501	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6830661	0.86[ASN][1000 genomes]
rs6838118	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839280	0.94[ASN][1000 genomes]
rs6843114	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6844426	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6845695	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6850116	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6854774	0.86[ASN][1000 genomes]
rs6857012	0.85[ASN][1000 genomes]
rs6857679	0.94[ASN][1000 genomes]
rs727760	0.94[ASN][1000 genomes]
rs727761	0.94[ASN][1000 genomes]
rs7439893	0.94[ASN][1000 genomes]
rs7662194	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671578	0.86[ASN][1000 genomes]
rs7674715	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7681040	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7681426	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7682144	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7691065	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7691825	0.86[ASN][1000 genomes]
rs7692418	0.86[ASN][1000 genomes]
rs7692450	0.86[ASN][1000 genomes]
rs7694563	0.86[ASN][1000 genomes]
rs7696247	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9992277	0.94[ASN][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	esv1803379	chr4:79661618-79704210	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1792021	chr4:79661618-79784245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79685800-79695400	Enhancers	K562	blood
2	chr4:79686800-79691600	Enhancers	Fetal Intestine Large	intestine
3	chr4:79687400-79696000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:79687600-79696200	Weak transcription	Osteobl	bone
5	chr4:79688600-79690800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:79688600-79691600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:79688600-79692000	Enhancers	Fetal Intestine Small	intestine
8	chr4:79689000-79691600	Enhancers	NHLF	lung
9	chr4:79689200-79691000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:79689200-79691200	Enhancers	Dnd41	blood
11	chr4:79689200-79691600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:79689400-79691000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:79689400-79691000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:79689400-79691000	Enhancers	Fetal Thymus	thymus
15	chr4:79689400-79691000	Enhancers	Thymus	Thymus
16	chr4:79689400-79691000	Enhancers	NHDF-Ad	bronchial
17	chr4:79689400-79691800	Enhancers	HUVEC	blood vessel
18	chr4:79689600-79690400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:79689600-79691000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:79689600-79691600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:79689600-79691600	Enhancers	NHEK	skin
22	chr4:79689600-79693400	Weak transcription	GM12878-XiMat	blood
23	chr4:79689800-79690800	Weak transcription	Fetal Heart	heart
24	chr4:79689800-79690800	Weak transcription	Left Ventricle	heart
25	chr4:79689800-79691000	Enhancers	Primary T cells from cord blood	blood
26	chr4:79689800-79692200	Weak transcription	Esophagus	oesophagus
27	chr4:79689800-79695200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:79689800-79696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:79689800-79696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:79690000-79690400	Enhancers	HSMM	muscle
31	chr4:79690000-79690800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:79690000-79691600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:79690000-79696200	Weak transcription	HMEC	breast
34	chr4:79690200-79690400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:79690200-79691400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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