Variant report

Variant	rs12143350
Chromosome Location	chr1:180445512-180445513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180155609..180157306-chr1:180443324..180446117,2	MCF-7	breast:
2	chr1:180445158..180449486-chr1:180469898..180473784,7	MCF-7	breast:
3	chr1:180191227..180195621-chr1:180443394..180446710,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135847	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10158367	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10465516	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10494527	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10753208	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10753209	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10753211	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10753212	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10753216	0.85[EUR][1000 genomes]
rs10798745	0.83[ASN][1000 genomes]
rs10798746	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10798756	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10798757	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10798759	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10798760	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798762	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10798766	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798769	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798770	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10798771	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10913968	0.88[ASN][1000 genomes]
rs10913973	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10913974	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10913976	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10913978	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10913980	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10913981	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10913982	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10913983	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10913984	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10913985	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10913986	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10913987	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10913998	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10914001	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10914005	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10914010	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10914014	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10914016	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10914017	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10914018	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11580793	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11799870	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12034217	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12121043	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12122338	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12127886	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12128560	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12129511	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12129784	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12131071	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12132837	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12135463	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12141348	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12141848	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12561776	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12565492	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12730889	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12733492	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12749611	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1416821	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1538620	0.87[ASN][1000 genomes]
rs1970400	0.81[ASN][1000 genomes]
rs2105232	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2147774	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2296378	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3806301	0.85[ASN][1000 genomes]
rs3923222	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4076403	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4142992	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4418555	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4420052	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4421553	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4442335	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4578179	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4607831	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4634864	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4651064	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4652493	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4652504	0.88[ASN][1000 genomes]
rs4652505	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6425641	0.82[ASN][1000 genomes]
rs6665719	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6670544	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6674244	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6687442	0.84[ASN][1000 genomes]
rs6687549	0.83[ASN][1000 genomes]
rs6688844	0.85[EUR][1000 genomes]
rs6697924	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6699585	0.83[ASN][1000 genomes]
rs6700986	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6704334	0.83[ASN][1000 genomes]
rs6704437	0.83[ASN][1000 genomes]
rs7523003	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7523857	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7528650	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7532806	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9726041	0.84[ASN][1000 genomes]
rs9730180	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS 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	39 gene(s)	inside rSNPs	diseases
5	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
6	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
7	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription 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	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180392600-180446200	Weak transcription	K562	blood
2	chr1:180403400-180448000	Weak transcription	HMEC	breast
3	chr1:180404400-180469000	Weak transcription	Pancreas	Pancrea
4	chr1:180421000-180448000	Weak transcription	HSMM	muscle
5	chr1:180421200-180451600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:180425800-180457600	Weak transcription	Aorta	Aorta
7	chr1:180427400-180448200	Weak transcription	Osteobl	bone
8	chr1:180428000-180470000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:180429600-180455000	Weak transcription	Left Ventricle	heart
10	chr1:180430200-180454600	Weak transcription	Thymus	Thymus
11	chr1:180431200-180470200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:180431400-180447800	Weak transcription	Fetal Stomach	stomach
13	chr1:180431400-180448200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:180432000-180451400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:180432000-180470600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:180432200-180448000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:180433600-180454200	Weak transcription	Adipose Nuclei	Adipose
18	chr1:180433800-180455000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:180434000-180448000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:180434000-180465600	Weak transcription	Fetal Brain Male	brain
21	chr1:180434200-180470200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:180434400-180451400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:180434600-180448000	Weak transcription	Primary B cells from cord blood	blood
24	chr1:180434600-180448000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:180434600-180448000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:180434600-180448200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:180434600-180448200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:180434600-180448400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:180434800-180451400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:180434800-180458800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:180435000-180448000	Weak transcription	Fetal Lung	lung
32	chr1:180435000-180456400	Weak transcription	Fetal Kidney	kidney
33	chr1:180435200-180448000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:180435200-180454400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:180435200-180469000	Weak transcription	Brain Angular Gyrus	brain
36	chr1:180435400-180448000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:180435400-180448200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:180435600-180448600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:180436600-180450400	Weak transcription	NHDF-Ad	bronchial
40	chr1:180437600-180445800	Weak transcription	A549	lung
41	chr1:180437600-180448800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:180437600-180451400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:180437600-180454600	Weak transcription	Gastric	stomach
44	chr1:180437600-180455200	Weak transcription	Ovary	ovary
45	chr1:180437600-180470400	Weak transcription	Right Ventricle	heart
46	chr1:180437600-180470600	Weak transcription	Spleen	Spleen
47	chr1:180437600-180471000	Weak transcription	Lung	lung
48	chr1:180437800-180454400	Weak transcription	Fetal Intestine Large	intestine
49	chr1:180438200-180448000	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:180438200-180451400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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