Variant report

Variant	rs62308008
Chromosome Location	chr4:79850474-79850475
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	chr4:79846006..79848197-chr4:79849339..79851682,3	MCF-7	breast:
2	chr4:79844612..79846577-chr4:79849709..79851536,2	K562	blood:

Variant related genes	Relation type
ENSG00000163291	Chromatin interaction

Extended variants
information (count: 140 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10005471	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10010709	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10027127	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10518205	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10518206	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10518208	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10518209	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12643807	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12644278	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12644502	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12644685	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12645310	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12647482	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12647524	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12647653	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12648396	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12648450	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12649750	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12649863	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12649978	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12650337	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1426137	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1426139	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1564458	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16997408	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17003450	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17003453	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17003454	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17003464	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17003465	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17003472	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17003478	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17003479	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17003488	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17003489	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17003492	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17003499	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17003500	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17003503	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17003504	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17003511	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17008951	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2033060	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2033061	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2033062	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2033063	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2127781	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2170243	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2288255	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2291181	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2306443	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28372745	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28410307	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28411173	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28489278	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28719734	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2903591	0.84[EUR][1000 genomes]
rs35741786	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3775513	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3775514	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3775515	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3775516	0.80[AMR][1000 genomes]
rs3775525	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3796681	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3796682	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3811766	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3822107	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3822108	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs41418051	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs41509244	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4637427	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56802690	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57429247	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57574345	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs57767544	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58761040	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59030520	0.84[EUR][1000 genomes]
rs59707131	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60830908	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61073409	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61193392	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61470194	0.84[EUR][1000 genomes]
rs61671866	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62307961	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62307962	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62307963	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62307964	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62307966	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62307967	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62307968	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62307994	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62307995	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62307996	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62308000	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62308001	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62308002	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62308004	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62308006	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62308007	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62308009	0.91[ASN][1000 genomes]
rs62308010	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62308011	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62308012	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62308013	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62308042	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62310763	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62310793	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62310795	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62310796	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62310803	0.80[AMR][1000 genomes]
rs62310804	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62310806	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62310809	0.84[EUR][1000 genomes]
rs62310810	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62310811	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62310843	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6814884	0.80[AMR][1000 genomes]
rs6828501	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6830661	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6843114	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6844426	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6845695	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6850116	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6854774	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6857012	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7662194	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7671578	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7674715	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7681040	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7681426	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7682144	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7691065	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7691825	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7692418	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7692450	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7694563	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7696247	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879504	chr4:79759796-79874275	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats 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 miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv829979	chr4:79819168-80019159	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS 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 miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79779800-79858200	Weak transcription	Fetal Brain Male	brain
2	chr4:79794200-79859600	Weak transcription	Colonic Mucosa	Colon
3	chr4:79794800-79858000	Weak transcription	HepG2	liver
4	chr4:79799200-79858000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:79814600-79859600	Weak transcription	Fetal Kidney	kidney
6	chr4:79816200-79858400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:79827400-79858000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:79827400-79858000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:79829000-79859200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:79830200-79859200	Weak transcription	Hela-S3	cervix
11	chr4:79831200-79858000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:79831400-79856600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:79833000-79859800	Weak transcription	Esophagus	oesophagus
14	chr4:79833000-79859800	Weak transcription	Right Ventricle	heart
15	chr4:79833200-79853400	Weak transcription	NHLF	lung
16	chr4:79833200-79859000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:79833200-79859600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:79833400-79856800	Weak transcription	GM12878-XiMat	blood
19	chr4:79833600-79858000	Weak transcription	Brain Substantia Nigra	brain
20	chr4:79833600-79859000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:79833600-79859800	Weak transcription	Placenta	Placenta
22	chr4:79835600-79856000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:79836600-79859000	Weak transcription	HSMM	muscle
24	chr4:79840200-79856800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:79841200-79851800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr4:79841600-79852200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:79841800-79857600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:79842000-79858200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr4:79842800-79850800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:79843000-79851800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:79843200-79853000	Strong transcription	Fetal Thymus	thymus
32	chr4:79843200-79854400	Strong transcription	Primary T cells from cord blood	blood
33	chr4:79843400-79851800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:79843800-79855600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:79843800-79858800	Weak transcription	Brain Germinal Matrix	brain
36	chr4:79844200-79850600	Weak transcription	Osteobl	bone
37	chr4:79844200-79855800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:79844400-79852000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:79844400-79859000	Weak transcription	HUVEC	blood vessel
40	chr4:79844800-79855600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:79845000-79855000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:79845200-79851400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:79845200-79859200	Weak transcription	Fetal Heart	heart
44	chr4:79845400-79850800	Strong transcription	Left Ventricle	heart
45	chr4:79845600-79856200	Weak transcription	Liver	Liver
46	chr4:79845800-79860000	Weak transcription	Small Intestine	intestine
47	chr4:79846600-79850800	Strong transcription	NHDF-Ad	bronchial
48	chr4:79846600-79851400	Strong transcription	Adipose Nuclei	Adipose
49	chr4:79846600-79851600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:79846800-79851600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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