Variant report

Variant	rs34487131
Chromosome Location	chr7:80572593-80572594
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:80569413..80574847-chr7:80699987..80704923,10	MCF-7	breast:
2	chr7:80505822..80506764-chr7:80571634..80572839,6	MCF-7	breast:
3	chr7:80571034..80573254-chr7:80627413..80629496,2	MCF-7	breast:
4	chr7:80569987..80572851-chr7:80884552..80889761,8	MCF-7	breast:
5	chr7:80505984..80506808-chr7:80572009..80573182,3	MCF-7	breast:
6	chr7:80571993..80572689-chr7:80697291..80697866,3	MCF-7	breast:
7	chr7:80572189..80572750-chr7:80697046..80697791,3	MCF-7	breast:
8	chr7:80569841..80573432-chr7:81092490..81095821,3	MCF-7	breast:
9	chr7:80570440..80573210-chr7:80694218..80696148,2	MCF-7	breast:
10	chr7:80572189..80572824-chr7:80704051..80704818,2	MCF-7	breast:
11	chr7:80571882..80572841-chr7:80694402..80695316,4	MCF-7	breast:
12	chr7:80572589..80574817-chr7:80578538..80580273,2	K562	blood:
13	chr7:80572045..80572854-chr7:80788401..80789236,4	MCF-7	breast:
14	chr7:80572230..80572810-chr7:80797271..80798240,3	MCF-7	breast:
15	chr7:80571379..80572923-chr7:80681635..80683141,2	MCF-7	breast:
16	chr7:80570735..80573677-chr7:80637820..80640078,2	MCF-7	breast:
17	chr20:42706674..42707175-chr7:80572213..80572853,2	MCF-7	breast:
18	chr7:80572251..80575654-chr7:81073982..81077270,3	MCF-7	breast:
19	chr7:80505822..80506764-chr7:80572030..80572839,5	MCF-7	breast:
20	chr7:80570676..80574921-chr7:80787209..80790875,5	MCF-7	breast:
21	chr7:80571523..80573268-chr7:80727858..80730122,2	MCF-7	breast:
22	chr7:80570770..80572897-chr7:105160779..105163688,2	MCF-7	breast:
23	chr7:80570445..80573184-chr7:81084491..81088417,3	MCF-7	breast:
24	chr7:80550231..80550880-chr7:80571740..80572600,3	MCF-7	breast:
25	chr7:80571563..80574041-chr7:81074913..81077114,2	MCF-7	breast:
26	chr7:80570519..80573316-chr7:80792715..80798037,5	MCF-7	breast:
27	chr7:80568637..80573447-chr7:80883895..80888715,7	MCF-7	breast:
28	chr7:80572005..80572687-chr7:80788332..80788947,2	MCF-7	breast:
29	chr7:80570359..80572811-chr7:80898526..80900514,2	MCF-7	breast:
30	chr7:80572153..80572810-chr7:80797740..80798526,2	MCF-7	breast:
31	chr7:80505910..80506847-chr7:80572260..80573180,4	MCF-7	breast:
32	chr7:80571738..80573248-chr7:80725803..80727635,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232968	Chromatin interaction
ENSG00000091127	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11765755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11768868	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769269	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11773155	0.95[ASN][1000 genomes]
rs13245141	0.91[ASN][1000 genomes]
rs17230418	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17296493	0.86[ASN][1000 genomes]
rs34181175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67538667	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68002409	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68167830	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv888548	chr7:80553950-80587737	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv888549	chr7:80553950-80652059	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80569400-80573400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:80569400-80573800	Enhancers	HMEC	breast
3	chr7:80569600-80573200	Enhancers	NHLF	lung
4	chr7:80569800-80573000	Enhancers	NH-A	brain
5	chr7:80569800-80573000	Enhancers	Osteobl	bone
6	chr7:80570000-80572800	Enhancers	Fetal Lung	lung
7	chr7:80570000-80573000	Enhancers	HUVEC	blood vessel
8	chr7:80570600-80572600	Enhancers	NHEK	skin
9	chr7:80570600-80573000	Enhancers	HSMMtube	muscle
10	chr7:80570800-80573800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr7:80571400-80573000	Enhancers	Stomach Mucosa	stomach
12	chr7:80571600-80573000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:80571600-80573600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:80571800-80572600	Weak transcription	Gastric	stomach
15	chr7:80571800-80573000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:80571800-80573600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:80572000-80575000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:80572000-80576400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:80572000-80579600	Weak transcription	Fetal Heart	heart
20	chr7:80572200-80572600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr7:80572200-80572600	Weak transcription	NHDF-Ad	bronchial
22	chr7:80572200-80573200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr7:80572200-80575000	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:80572400-80572600	Active TSS	A549	lung
25	chr7:80572400-80573800	Weak transcription	Placenta	Placenta
26	chr7:80572400-80574000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:80572400-80575000	Weak transcription	Adipose Nuclei	Adipose
28	chr7:80572400-80575000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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