Variant report

Variant	rs28623616
Chromosome Location	chr7:121086762-121086763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:121017884..121020146-chr7:121086694..121088827,2	K562	blood:
2	chr7:121084438..121087093-chr7:121100657..121102565,2	K562	blood:
3	chr5:43040736..43042911-chr7:121084118..121086879,2	MCF-7	breast:
4	chr7:121034708..121036424-chr7:121085034..121087096,2	K562	blood:
5	chr7:121084429..121087093-chr7:121100657..121103964,3	K562	blood:
6	chr7:121086464..121088878-chr7:121090558..121092067,2	K562	blood:

Variant related genes	Relation type
ENSG00000215068	Chromatin interaction
ENSG00000196937	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10215001	0.90[EUR][1000 genomes]
rs10215613	0.90[EUR][1000 genomes]
rs10215690	0.90[EUR][1000 genomes]
rs10215696	0.89[EUR][1000 genomes]
rs10224285	0.94[EUR][1000 genomes]
rs10224531	0.90[EUR][1000 genomes]
rs10229623	0.90[EUR][1000 genomes]
rs10240942	0.89[EUR][1000 genomes]
rs10255192	0.90[EUR][1000 genomes]
rs10259018	0.90[EUR][1000 genomes]
rs10264556	0.84[EUR][1000 genomes]
rs10267770	0.90[EUR][1000 genomes]
rs10270768	0.90[EUR][1000 genomes]
rs11520945	0.89[EUR][1000 genomes]
rs11521035	0.88[EUR][1000 genomes]
rs11521036	0.88[EUR][1000 genomes]
rs12706345	0.86[EUR][1000 genomes]
rs12706347	0.90[EUR][1000 genomes]
rs12706348	0.90[EUR][1000 genomes]
rs12706349	0.94[EUR][1000 genomes]
rs13233332	0.92[EUR][1000 genomes]
rs13237689	0.88[EUR][1000 genomes]
rs13237707	0.87[EUR][1000 genomes]
rs13237717	0.86[EUR][1000 genomes]
rs13242463	0.82[EUR][1000 genomes]
rs1406191	0.94[EUR][1000 genomes]
rs1534519	0.85[EUR][1000 genomes]
rs1534520	0.90[EUR][1000 genomes]
rs1534521	0.94[EUR][1000 genomes]
rs1534522	0.90[EUR][1000 genomes]
rs1609291	0.87[EUR][1000 genomes]
rs1881373	0.90[EUR][1000 genomes]
rs2049703	0.90[EUR][1000 genomes]
rs2141357	0.84[EUR][1000 genomes]
rs2141359	0.94[EUR][1000 genomes]
rs2178187	0.94[EUR][1000 genomes]
rs2244845	0.90[EUR][1000 genomes]
rs2244847	0.89[EUR][1000 genomes]
rs2244849	0.89[EUR][1000 genomes]
rs2263404	0.90[EUR][1000 genomes]
rs2402564	0.87[EUR][1000 genomes]
rs2402565	0.90[EUR][1000 genomes]
rs2402566	0.90[EUR][1000 genomes]
rs2402567	0.94[EUR][1000 genomes]
rs2463645	0.85[EUR][1000 genomes]
rs2463646	0.90[EUR][1000 genomes]
rs2697167	0.83[ASN][1000 genomes]
rs2697168	0.90[EUR][1000 genomes]
rs2697171	0.90[EUR][1000 genomes]
rs2697172	0.90[EUR][1000 genomes]
rs2697173	0.90[EUR][1000 genomes]
rs2697174	0.90[EUR][1000 genomes]
rs2697188	0.90[EUR][1000 genomes]
rs2697189	0.89[EUR][1000 genomes]
rs2697190	0.83[EUR][1000 genomes]
rs2707484	0.86[EUR][1000 genomes]
rs2707485	0.84[EUR][1000 genomes]
rs2707490	0.89[EUR][1000 genomes]
rs2707502	0.89[EUR][1000 genomes]
rs28609751	0.94[EUR][1000 genomes]
rs2950813	0.90[EUR][1000 genomes]
rs2952573	0.90[EUR][1000 genomes]
rs2952575	0.90[EUR][1000 genomes]
rs2952577	0.89[EUR][1000 genomes]
rs4507708	0.92[EUR][1000 genomes]
rs4541839	0.86[EUR][1000 genomes]
rs4593469	0.92[EUR][1000 genomes]
rs4731012	0.90[EUR][1000 genomes]
rs4731013	0.90[EUR][1000 genomes]
rs4731014	0.91[EUR][1000 genomes]
rs4731015	0.94[EUR][1000 genomes]
rs56403550	0.86[EUR][1000 genomes]
rs57207725	0.90[AFR][1000 genomes]
rs62475037	0.86[EUR][1000 genomes]
rs62475038	0.86[EUR][1000 genomes]
rs62475039	0.86[EUR][1000 genomes]
rs62475040	0.86[EUR][1000 genomes]
rs62476180	0.86[EUR][1000 genomes]
rs62476184	0.86[EUR][1000 genomes]
rs62476187	0.84[EUR][1000 genomes]
rs62476208	0.90[EUR][1000 genomes]
rs62476209	0.87[EUR][1000 genomes]
rs62476210	0.88[EUR][1000 genomes]
rs62476211	0.85[EUR][1000 genomes]
rs6466785	0.90[EUR][1000 genomes]
rs67303703	0.86[EUR][1000 genomes]
rs6961822	0.90[EUR][1000 genomes]
rs6962156	0.90[EUR][1000 genomes]
rs7776617	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7794700	0.86[EUR][1000 genomes]
rs7795121	0.86[EUR][1000 genomes]
rs7809856	0.90[EUR][1000 genomes]
rs7809875	0.94[EUR][1000 genomes]
rs9641666	0.90[EUR][1000 genomes]
rs9656282	0.90[EUR][1000 genomes]
rs9656283	0.90[EUR][1000 genomes]
rs9656284	0.90[EUR][1000 genomes]
rs9656285	0.90[EUR][1000 genomes]
rs9886342	0.89[EUR][1000 genomes]
rs9942703	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv1838195	chr7:121083616-121090531	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121078800-121087400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:121079000-121095800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:121081200-121088400	Weak transcription	Left Ventricle	heart
4	chr7:121081400-121088400	Weak transcription	Placenta	Placenta
5	chr7:121083200-121087600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:121086200-121088600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:121086600-121086800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:121086600-121086800	Enhancers	Fetal Muscle Leg	muscle
9	chr7:121086600-121086800	Enhancers	Right Atrium	heart
10	chr7:121086600-121087000	Enhancers	Rectal Smooth Muscle	rectum
11	chr7:121086600-121087000	Enhancers	NHEK	skin
12	chr7:121086600-121087400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:121086600-121088000	Enhancers	Adipose Nuclei	Adipose
14	chr7:121086600-121088200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:121086600-121088200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:121086600-121088200	Enhancers	HSMM	muscle
17	chr7:121086600-121088400	Enhancers	NHDF-Ad	bronchial

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