Variant report

Variant	rs570781
Chromosome Location	chr3:146186807-146186808
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	chr3:146185173..146186845-chr3:146259254..146261120,2	K562	blood:
2	chr3:146185354..146186858-chr3:146261288..146263091,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188313	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10804714	0.81[ASN][1000 genomes]
rs10935631	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12054453	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12107218	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12486737	0.84[ASN][1000 genomes]
rs12487572	0.95[ASN][1000 genomes]
rs12492503	0.81[ASN][1000 genomes]
rs12494206	0.84[ASN][1000 genomes]
rs12633694	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13068178	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13068800	0.84[ASN][1000 genomes]
rs13081634	0.84[ASN][1000 genomes]
rs13088225	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13090489	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1403640	0.91[ASN][1000 genomes]
rs1403641	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1403642	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1403643	0.84[ASN][1000 genomes]
rs1403644	0.84[ASN][1000 genomes]
rs1403645	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1523334	0.95[ASN][1000 genomes]
rs1523335	0.81[ASN][1000 genomes]
rs1523336	0.94[ASN][1000 genomes]
rs1608389	0.96[ASN][1000 genomes]
rs1608390	0.95[ASN][1000 genomes]
rs1608392	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17351881	0.85[ASN][1000 genomes]
rs2091064	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2222465	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2222466	0.84[ASN][1000 genomes]
rs2868438	0.95[ASN][1000 genomes]
rs34696856	0.90[ASN][1000 genomes]
rs34740686	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35082616	0.85[ASN][1000 genomes]
rs35223042	0.84[ASN][1000 genomes]
rs35336826	0.84[ASN][1000 genomes]
rs35374128	0.84[ASN][1000 genomes]
rs35695439	0.84[ASN][1000 genomes]
rs4234358	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4282029	0.90[ASN][1000 genomes]
rs4333063	0.83[ASN][1000 genomes]
rs4334615	0.97[ASN][1000 genomes]
rs4355250	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4380387	0.84[ASN][1000 genomes]
rs4444684	0.84[ASN][1000 genomes]
rs4558726	0.93[ASN][1000 genomes]
rs4569626	0.80[ASN][1000 genomes]
rs4572737	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4597678	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4600794	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4681322	0.81[ASN][1000 genomes]
rs4681326	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs473517	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs506791	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs509382	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs533756	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs535344	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs544043	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs544979	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs574318	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57545585	0.84[ASN][1000 genomes]
rs6440435	0.81[ASN][1000 genomes]
rs6766583	0.80[ASN][1000 genomes]
rs6774338	0.84[ASN][1000 genomes]
rs6798352	0.95[ASN][1000 genomes]
rs6801846	0.93[ASN][1000 genomes]
rs6801964	0.93[ASN][1000 genomes]
rs692749	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7434147	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7617214	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7633474	0.91[ASN][1000 genomes]
rs7645939	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7650546	0.93[ASN][1000 genomes]
rs7653701	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs940193	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	nsv877618	chr3:146096182-146192324	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv877622	chr3:146131961-146219740	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3448053	chr3:146186791-146262066	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146181600-146187000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr3:146183000-146187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:146183000-146187000	Weak transcription	HMEC	breast
4	chr3:146183000-146187000	Weak transcription	NHEK	skin
5	chr3:146183600-146187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:146184000-146187000	Weak transcription	Right Atrium	heart
7	chr3:146184200-146187000	Weak transcription	Aorta	Aorta
8	chr3:146184200-146187000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:146185600-146187000	Enhancers	NHDF-Ad	bronchial
10	chr3:146185800-146187000	Enhancers	Fetal Heart	heart
11	chr3:146185800-146187000	Weak transcription	Gastric	stomach
12	chr3:146185800-146187000	Enhancers	Stomach Mucosa	stomach
13	chr3:146185800-146187200	Enhancers	Fetal Lung	lung
14	chr3:146185800-146187200	Weak transcription	Psoas Muscle	Psoas
15	chr3:146185800-146187200	Enhancers	NHLF	lung
16	chr3:146186000-146187000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:146186000-146187000	Enhancers	Primary hematopoietic stem cells	blood
18	chr3:146186000-146187000	Enhancers	Brain Substantia Nigra	brain
19	chr3:146186200-146187000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:146186400-146187000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:146186400-146187200	Flanking Active TSS	A549	lung
22	chr3:146186400-146187600	Flanking Active TSS	Osteobl	bone
23	chr3:146186400-146188800	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr3:146186600-146187000	Active TSS	Primary monocytes fromperipheralblood	blood
25	chr3:146186600-146187000	Active TSS	Adipose Nuclei	Adipose
26	chr3:146186600-146187000	Active TSS	Stomach Smooth Muscle	stomach
27	chr3:146186600-146187000	Active TSS	GM12878-XiMat	blood
28	chr3:146186600-146187000	Enhancers	HSMM	muscle
29	chr3:146186600-146187000	Active TSS	Monocytes-CD14+_RO01746	blood
30	chr3:146186600-146187200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:146186600-146187200	Flanking Active TSS	Fetal Stomach	stomach
32	chr3:146186600-146187600	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr3:146186600-146188000	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr3:146186600-146188000	Active TSS	Primary T cells from cord blood	blood
35	chr3:146186600-146188000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:146186600-146188600	Active TSS	Duodenum Mucosa	Duodenum
37	chr3:146186800-146187000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:146186800-146187000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:146186800-146187000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:146186800-146187000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:146186800-146187000	Enhancers	Esophagus	oesophagus
42	chr3:146186800-146187000	Active TSS	Fetal Muscle Trunk	muscle
43	chr3:146186800-146187000	Enhancers	Placenta	Placenta
44	chr3:146186800-146187000	Enhancers	Left Ventricle	heart
45	chr3:146186800-146187000	Enhancers	Lung	lung
46	chr3:146186800-146187000	Enhancers	Right Ventricle	heart
47	chr3:146186800-146187000	Enhancers	Thymus	Thymus
48	chr3:146186800-146187000	Active TSS	Hela-S3	cervix
49	chr3:146186800-146187000	Active TSS	HUVEC	blood vessel
50	chr3:146186800-146187200	Active TSS	H1 Cell Line	embryonic stem cell

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