Variant report

Variant	rs62310804
Chromosome Location	chr4:79726505-79726506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79695668..79697243-chr4:79725186..79727930,2	K562	blood:
2	chr4:79725596..79728159-chr4:79729927..79731920,2	K562	blood:

Variant related genes	Relation type
ENSG00000260278	Chromatin interaction

Extended variants
information (count: 183 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:181)

rs_ID	r²[population]
rs10005471	0.86[ASN][1000 genomes]
rs10010709	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10027127	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10213354	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10518201	0.93[ASN][1000 genomes]
rs10518202	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10518205	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10518206	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10518208	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10518209	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12641797	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12643807	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12644278	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12644502	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12644685	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12645310	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12647482	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12647524	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12647653	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12648219	0.94[ASN][1000 genomes]
rs12648396	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12648450	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12649750	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12649863	0.89[ASN][1000 genomes]
rs12649978	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12650337	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1426137	0.89[ASN][1000 genomes]
rs1426139	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1564458	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16997408	0.86[ASN][1000 genomes]
rs17003427	0.85[ASN][1000 genomes]
rs17003443	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17003450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17003451	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17003453	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17003454	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17003464	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17003465	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17003472	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17003476	0.82[AFR][1000 genomes]
rs17003478	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17003479	0.86[ASN][1000 genomes]
rs17003488	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17003489	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17003492	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17003499	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17003500	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17003503	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17003504	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17003511	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17008951	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1834517	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1972691	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978552	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2033060	0.86[ASN][1000 genomes]
rs2033061	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2033062	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2033063	0.86[ASN][1000 genomes]
rs2114203	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127781	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2162228	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2170243	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2288255	0.86[ASN][1000 genomes]
rs2291181	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2306443	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28372745	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28410307	0.84[ASN][1000 genomes]
rs28411173	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28489278	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28499303	0.93[ASN][1000 genomes]
rs28515480	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28579738	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28587143	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28621590	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28719734	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2903591	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35741786	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775513	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3775514	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3775515	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3775516	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775518	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775519	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775522	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775525	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796681	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3796682	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3811766	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3822107	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3822108	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41418051	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41509244	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4432766	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4550959	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4637427	0.86[ASN][1000 genomes]
rs56802690	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57011679	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57429247	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57574345	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57707267	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57767544	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58634945	0.93[ASN][1000 genomes]
rs58761040	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59030520	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59707131	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59994556	0.93[ASN][1000 genomes]
rs60830908	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60981779	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61073409	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61193392	0.86[ASN][1000 genomes]
rs61470194	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61671866	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62307961	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62307962	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62307963	0.86[ASN][1000 genomes]
rs62307964	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62307966	0.86[ASN][1000 genomes]
rs62307967	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62307968	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62307994	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62307995	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62307996	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62308000	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62308001	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62308002	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62308004	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62308006	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62308007	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62308008	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62308009	0.86[ASN][1000 genomes]
rs62308010	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62308011	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62308012	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62308013	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62308042	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62308350	0.93[ASN][1000 genomes]
rs62308353	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62308358	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62310760	0.93[ASN][1000 genomes]
rs62310763	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310789	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310790	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310793	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310795	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310796	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62310800	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310803	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310806	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62310809	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62310810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62310811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62310843	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6534005	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6814884	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6828501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6830661	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6838118	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839280	0.94[ASN][1000 genomes]
rs6843114	0.86[ASN][1000 genomes]
rs6844426	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6845695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6850116	0.86[ASN][1000 genomes]
rs6854774	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6857012	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6857679	0.94[ASN][1000 genomes]
rs727760	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs727761	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7439893	0.94[ASN][1000 genomes]
rs7662194	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671578	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7674715	0.86[ASN][1000 genomes]
rs7681040	0.86[ASN][1000 genomes]
rs7681426	0.86[ASN][1000 genomes]
rs7682144	0.86[ASN][1000 genomes]
rs7691065	0.86[ASN][1000 genomes]
rs7691825	0.86[ASN][1000 genomes]
rs7692418	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7692450	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7694563	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7696247	0.86[ASN][1000 genomes]
rs9992277	0.81[EUR][1000 genomes];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	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
2	nsv1011365	chr4:79714695-79779723	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79700200-79732800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:79702000-79731200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:79705600-79731200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:79709200-79731200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:79714400-79748400	Weak transcription	Aorta	Aorta
6	chr4:79715400-79730400	Weak transcription	Left Ventricle	heart
7	chr4:79716600-79726800	Weak transcription	Fetal Intestine Large	intestine
8	chr4:79719600-79727000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:79720600-79730000	Weak transcription	Primary T cells from cord blood	blood
10	chr4:79720800-79747800	Weak transcription	Osteobl	bone
11	chr4:79721200-79741400	Weak transcription	Thymus	Thymus
12	chr4:79721400-79730600	Weak transcription	Psoas Muscle	Psoas
13	chr4:79721600-79747200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:79721800-79727400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:79721800-79727400	Weak transcription	NHEK	skin
16	chr4:79721800-79731400	Weak transcription	HMEC	breast
17	chr4:79722200-79731600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:79724800-79726800	Weak transcription	Fetal Intestine Small	intestine
19	chr4:79725800-79726600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:79725800-79731400	Weak transcription	Fetal Heart	heart
21	chr4:79726000-79728600	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr4:79726200-79726600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr4:79726200-79726600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:79726200-79726600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr4:79726200-79728400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:79726200-79728800	Weak transcription	Fetal Thymus	thymus
27	chr4:79726200-79728800	ZNF genes & repeats	K562	blood
28	chr4:79726400-79726600	Enhancers	H9 Cell Line	embryonic stem cell

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