Variant report

Variant	rs60367530
Chromosome Location	chr3:143719294-143719295
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143718991..143721092-chr3:143724372..143726394,2	K562	blood:
2	chr3:143717685..143719346-chr3:143782583..143784716,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1025984	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10513235	0.95[EUR][1000 genomes]
rs11914731	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13067695	0.95[ASN][1000 genomes]
rs13068298	0.95[ASN][1000 genomes]
rs13078840	0.95[EUR][1000 genomes]
rs13081286	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13086088	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16854772	0.96[EUR][1000 genomes]
rs16854816	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16854819	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16854884	0.95[ASN][1000 genomes]
rs16854886	0.95[ASN][1000 genomes]
rs1867608	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1867609	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1898265	0.87[ASN][1000 genomes]
rs1961542	0.95[ASN][1000 genomes]
rs1979910	0.98[EUR][1000 genomes]
rs2011080	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2164554	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2370171	0.95[ASN][1000 genomes]
rs34372603	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34683397	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35067746	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35085196	0.98[EUR][1000 genomes]
rs35193361	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35309714	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35629416	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35649888	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35788195	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35796781	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35877644	0.94[EUR][1000 genomes]
rs35885310	0.87[ASN][1000 genomes]
rs35887108	0.95[ASN][1000 genomes]
rs35959290	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4527375	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4561830	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4611822	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4613453	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4616638	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59768870	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60676654	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62268458	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62269895	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6440210	0.98[EUR][1000 genomes]
rs6440212	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6766544	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6766685	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6767236	0.95[ASN][1000 genomes]
rs6769910	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6778627	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6779321	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6783089	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6791078	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6795008	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6796460	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7611326	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7634145	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7637912	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7639366	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7642551	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7642774	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7646187	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7650145	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7650172	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs920159	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9755502	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9755515	0.94[EUR][1000 genomes];0.85[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	nsv877568	chr3:143621140-143992630	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3365190	chr3:143642195-143925886	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv591922	chr3:143645242-143825439	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143694400-143719400	Weak transcription	Hela-S3	cervix
2	chr3:143697000-143722800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:143697000-143729200	Weak transcription	Aorta	Aorta
4	chr3:143697200-143723000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:143697200-143727800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:143698400-143721200	Weak transcription	Fetal Kidney	kidney
7	chr3:143699200-143737600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:143700400-143720400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:143702600-143727400	Weak transcription	Pancreas	Pancrea
10	chr3:143703200-143720600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:143703400-143719400	Weak transcription	Placenta	Placenta
12	chr3:143704600-143719600	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:143704600-143725800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:143705600-143722600	Weak transcription	Esophagus	oesophagus
15	chr3:143706400-143728000	Weak transcription	Fetal Stomach	stomach
16	chr3:143706600-143722600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:143706800-143725000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:143707000-143722600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:143708000-143729200	Weak transcription	Ovary	ovary
20	chr3:143708800-143720400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:143708800-143729200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:143709000-143720600	Weak transcription	Fetal Muscle Leg	muscle
23	chr3:143709000-143722800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr3:143709000-143723000	Weak transcription	Fetal Intestine Small	intestine
25	chr3:143709000-143724400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:143709200-143722600	Weak transcription	Primary B cells from cord blood	blood
27	chr3:143709200-143728000	Weak transcription	NHLF	lung
28	chr3:143709200-143729000	Weak transcription	Fetal Lung	lung
29	chr3:143709400-143723800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:143710400-143721400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:143710800-143720200	Weak transcription	Liver	Liver
32	chr3:143711000-143723800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:143712000-143728600	Weak transcription	Left Ventricle	heart
34	chr3:143712200-143726600	Weak transcription	Primary T cells from cord blood	blood
35	chr3:143712400-143723000	Weak transcription	Fetal Intestine Large	intestine
36	chr3:143712800-143727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:143713400-143726800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:143714800-143726800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr3:143715000-143721000	Weak transcription	Brain Anterior Caudate	brain
40	chr3:143715000-143725400	Weak transcription	Brain Hippocampus Middle	brain
41	chr3:143715000-143726400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr3:143716600-143724000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:143717200-143722800	Weak transcription	HUVEC	blood vessel
44	chr3:143717200-143726000	Weak transcription	Brain Substantia Nigra	brain
45	chr3:143717600-143720400	Weak transcription	HMEC	breast
46	chr3:143717600-143729400	Weak transcription	NH-A	brain
47	chr3:143717800-143728000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr3:143718800-143722600	Weak transcription	Lung	lung
49	chr3:143719000-143722600	Strong transcription	HSMM	muscle
50	chr3:143719000-143723000	Weak transcription	Monocytes-CD14+_RO01746	blood

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