Variant report

Variant	rs13237717
Chromosome Location	chr7:121084244-121084245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43040736..43042911-chr7:121084118..121086879,2	MCF-7	breast:
2	chr7:121082938..121085924-chr7:121112606..121114729,2	K562	blood:
3	chr7:121082501..121084474-chr7:121087406..121089640,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215068	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10215001	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10215613	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10215690	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10215696	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10224285	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10224531	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10229623	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10240942	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10255192	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10259018	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10264556	0.83[EUR][1000 genomes]
rs10267770	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10270768	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12706345	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12706347	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12706348	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12706349	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13233332	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13237689	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13237707	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13242463	0.85[EUR][1000 genomes]
rs1406191	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1534519	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1534520	0.80[EUR][1000 genomes]
rs1534521	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1534522	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1881373	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2049703	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2141357	0.83[EUR][1000 genomes]
rs2141359	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2178187	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2244845	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2244847	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2244849	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2263404	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2402564	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2402565	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2402566	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2402567	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2463645	0.88[EUR][1000 genomes]
rs2463646	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2697168	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2697171	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2697172	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2697173	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2697174	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2697188	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2697189	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2697190	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2707484	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2707485	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2707490	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2707502	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28609751	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28623616	0.86[EUR][1000 genomes]
rs2950813	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2952571	0.85[AMR][1000 genomes]
rs2952573	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2952575	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2952577	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4507708	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4593469	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4731012	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4731013	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4731014	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4731015	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6466785	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67303703	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6961822	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6962156	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7776617	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7809856	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7809875	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9656282	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9656283	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9656284	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9656285	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9886342	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9942703	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
2	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription 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 target site	20 gene(s)	inside rSNPs	diseases
4	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription 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	19 gene(s)	inside rSNPs	diseases
5	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS 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	20 gene(s)	inside rSNPs	diseases
6	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv2757238	chr7:121059871-121089955	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2759559	chr7:121059871-121089955	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1029156	chr7:121069455-121143942	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv539104	chr7:121069455-121143942	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv3343950	chr7:121082741-121084939	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv17703	chr7:121083326-121084249	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv821417	chr7:121083326-121084249	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1846300	chr7:121083343-121084476	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv608329	chr7:121083512-121084362	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv608330	chr7:121083512-121084692	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv608331	chr7:121083512-121084861	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv13777	chr7:121083584-121085279	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv1797099	chr7:121083616-121084692	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv1836815	chr7:121083616-121084692	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv1847395	chr7:121083616-121084692	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv1800395	chr7:121083616-121084861	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	esv1833487	chr7:121083616-121084861	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	esv1842524	chr7:121083616-121084861	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv1845635	chr7:121083616-121084861	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	esv1851717	chr7:121083616-121084861	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	nsv608332	chr7:121083616-121084861	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	esv1841330	chr7:121083616-121084920	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	esv1828412	chr7:121083616-121085238	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
31	esv1835206	chr7:121083616-121085238	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
32	esv1837627	chr7:121083616-121085238	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	esv1840204	chr7:121083616-121085238	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
34	esv1842067	chr7:121083616-121085238	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
35	esv1842911	chr7:121083616-121085238	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
36	esv1838195	chr7:121083616-121090531	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
37	esv1844602	chr7:121083616-121099167	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121078600-121086600	Weak transcription	NHDF-Ad	bronchial
2	chr7:121078800-121087400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:121079000-121095800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:121081200-121086600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:121081200-121088400	Weak transcription	Left Ventricle	heart
6	chr7:121081400-121086600	Weak transcription	Adipose Nuclei	Adipose
7	chr7:121081400-121088400	Weak transcription	Placenta	Placenta
8	chr7:121081600-121086600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:121081800-121086200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:121083200-121084400	Weak transcription	Lung	lung
11	chr7:121083200-121086600	Weak transcription	NHEK	skin
12	chr7:121083200-121087600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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