Variant report

Variant	rs62307966
Chromosome Location	chr4:79816101-79816102
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:79811444-79840825	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79803045..79804596-chr4:79814139..79816959,2	K562	blood:

Variant related genes	Relation type
RN7SL127P	TF binding region

Extended variants
information (count: 174 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs10005471	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10010709	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10027127	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10213354	0.88[ASN][1000 genomes]
rs10518202	0.85[ASN][1000 genomes]
rs10518205	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518206	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10518208	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10518209	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12641797	0.87[ASN][1000 genomes]
rs12643807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12644278	0.85[ASN][1000 genomes]
rs12644502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12644685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12645310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12647482	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12647524	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12647653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12648219	0.81[ASN][1000 genomes]
rs12648396	0.86[ASN][1000 genomes]
rs12648450	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12649750	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12649863	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12649978	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12650337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1426137	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1426139	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1564458	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16997408	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17003443	0.81[ASN][1000 genomes]
rs17003450	0.85[ASN][1000 genomes]
rs17003451	0.86[ASN][1000 genomes]
rs17003453	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17003454	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17003464	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17003465	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17003472	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17003478	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17003479	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17003488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17003489	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17003492	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17003499	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17003500	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17003503	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17003504	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17003511	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17008951	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1834517	0.88[ASN][1000 genomes]
rs1972691	0.86[ASN][1000 genomes]
rs1978552	0.81[ASN][1000 genomes]
rs2033060	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033061	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2033062	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033063	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114203	0.86[ASN][1000 genomes]
rs2127781	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2162228	0.88[ASN][1000 genomes]
rs2170243	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2288255	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291181	0.97[ASN][1000 genomes]
rs2306443	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28372745	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28410307	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28411173	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28489278	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28515480	0.86[ASN][1000 genomes]
rs28579738	0.86[ASN][1000 genomes]
rs28587143	0.86[ASN][1000 genomes]
rs28621590	0.86[ASN][1000 genomes]
rs28719734	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2903591	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35741786	0.86[ASN][1000 genomes]
rs3775513	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3775514	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3775515	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3775516	0.88[ASN][1000 genomes]
rs3775518	0.86[ASN][1000 genomes]
rs3775519	0.86[ASN][1000 genomes]
rs3775522	0.86[ASN][1000 genomes]
rs3775525	0.86[ASN][1000 genomes]
rs3796681	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3796682	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3811766	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3822107	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3822108	0.86[ASN][1000 genomes]
rs41418051	0.86[ASN][1000 genomes]
rs41509244	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4432766	0.81[ASN][1000 genomes]
rs4550959	0.88[ASN][1000 genomes]
rs4637427	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56802690	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57011679	0.81[ASN][1000 genomes]
rs57429247	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57574345	0.86[ASN][1000 genomes]
rs57707267	0.81[ASN][1000 genomes]
rs57767544	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58761040	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59030520	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59707131	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60830908	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60981779	0.88[ASN][1000 genomes]
rs61073409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61193392	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61470194	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61671866	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62307961	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307963	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307967	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62307968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62307994	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62307995	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62307996	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62308000	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62308001	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62308002	0.92[ASN][1000 genomes]
rs62308004	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62308006	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62308007	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62308008	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62308009	0.92[ASN][1000 genomes]
rs62308010	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62308011	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62308012	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62308013	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62308042	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62308353	0.81[ASN][1000 genomes]
rs62308358	0.81[ASN][1000 genomes]
rs62310763	0.86[ASN][1000 genomes]
rs62310789	0.86[ASN][1000 genomes]
rs62310790	0.86[ASN][1000 genomes]
rs62310793	0.86[ASN][1000 genomes]
rs62310795	0.86[ASN][1000 genomes]
rs62310796	0.85[ASN][1000 genomes]
rs62310800	0.86[ASN][1000 genomes]
rs62310803	0.86[ASN][1000 genomes]
rs62310804	0.86[ASN][1000 genomes]
rs62310806	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62310809	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62310810	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62310811	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62310843	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534005	0.88[ASN][1000 genomes]
rs6814884	0.86[ASN][1000 genomes]
rs6828501	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6830661	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838118	0.86[ASN][1000 genomes]
rs6839280	0.81[ASN][1000 genomes]
rs6843114	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844426	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6845695	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6850116	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854774	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857012	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6857679	0.81[ASN][1000 genomes]
rs727760	0.81[ASN][1000 genomes]
rs727761	0.81[ASN][1000 genomes]
rs7439893	0.81[ASN][1000 genomes]
rs7662194	0.86[ASN][1000 genomes]
rs7671578	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7674715	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681040	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681426	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682144	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7691065	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7691825	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692418	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692450	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694563	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696247	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9992277	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79748800-79823600	Weak transcription	Small Intestine	intestine
2	chr4:79779800-79858200	Weak transcription	Fetal Brain Male	brain
3	chr4:79785000-79832400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:79786600-79831800	Weak transcription	Spleen	Spleen
5	chr4:79794200-79831800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:79794200-79832000	Weak transcription	Fetal Brain Female	brain
7	chr4:79794200-79832200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr4:79794200-79850000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:79794200-79859600	Weak transcription	Colonic Mucosa	Colon
10	chr4:79794400-79850000	Weak transcription	Pancreas	Pancrea
11	chr4:79794800-79832000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:79794800-79850200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:79794800-79858000	Weak transcription	HepG2	liver
14	chr4:79795000-79817400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr4:79795000-79832200	Weak transcription	Aorta	Aorta
16	chr4:79795000-79838200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:79795400-79832200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:79795400-79832200	Weak transcription	Right Ventricle	heart
19	chr4:79795400-79832400	Weak transcription	Esophagus	oesophagus
20	chr4:79796400-79844800	Weak transcription	Fetal Heart	heart
21	chr4:79796800-79831800	Weak transcription	HMEC	breast
22	chr4:79798000-79838400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:79798400-79835400	Weak transcription	Brain Angular Gyrus	brain
24	chr4:79799000-79831800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:79799200-79858000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:79804000-79818200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr4:79804600-79816400	Strong transcription	K562	blood
28	chr4:79804800-79818200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:79805600-79832200	Weak transcription	Fetal Intestine Small	intestine
30	chr4:79805600-79832200	Weak transcription	Fetal Stomach	stomach
31	chr4:79806000-79832000	Weak transcription	Lung	lung
32	chr4:79807400-79819400	Strong transcription	NHDF-Ad	bronchial
33	chr4:79809600-79831800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:79809800-79817600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:79809800-79838400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:79810000-79820000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr4:79810000-79832000	Weak transcription	NHEK	skin
38	chr4:79810000-79838200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:79810600-79831600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:79811800-79818200	Strong transcription	Fetal Intestine Large	intestine
41	chr4:79812000-79842800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:79812800-79817200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:79812800-79817800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr4:79812800-79817800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr4:79813000-79816200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:79813000-79818000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:79813400-79816400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:79813400-79816600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:79813400-79816600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr4:79813600-79816200	Strong transcription	Brain Hippocampus Middle	brain

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