Variant report

Variant	rs4731944
Chromosome Location	chr7:80571464-80571465
allele	C/T
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:80569413..80574847-chr7:80699987..80704923,10	MCF-7	breast:
2	chr7:80571034..80573254-chr7:80627413..80629496,2	MCF-7	breast:
3	chr7:80569987..80572851-chr7:80884552..80889761,8	MCF-7	breast:
4	chr7:80570278..80572086-chr7:80815972..80818560,2	MCF-7	breast:
5	chr7:80569560..80571494-chr7:80881761..80883574,2	MCF-7	breast:
6	chr7:80569841..80573432-chr7:81092490..81095821,3	MCF-7	breast:
7	chr7:80570440..80573210-chr7:80694218..80696148,2	MCF-7	breast:
8	chr7:80571379..80572923-chr7:80681635..80683141,2	MCF-7	breast:
9	chr7:80570735..80573677-chr7:80637820..80640078,2	MCF-7	breast:
10	chr7:80570593..80572425-chr7:80891070..80893761,2	MCF-7	breast:
11	chr7:80570676..80574921-chr7:80787209..80790875,5	MCF-7	breast:
12	chr7:80570770..80572897-chr7:105160779..105163688,2	MCF-7	breast:
13	chr7:80570445..80573184-chr7:81084491..81088417,3	MCF-7	breast:
14	chr7:80570216..80571747-chr7:80803128..80806062,2	MCF-7	breast:
15	chr7:80570519..80573316-chr7:80792715..80798037,5	MCF-7	breast:
16	chr7:80568637..80573447-chr7:80883895..80888715,7	MCF-7	breast:
17	chr7:80570359..80572811-chr7:80898526..80900514,2	MCF-7	breast:
18	chr7:80570369..80572451-chr7:80702280..80705942,3	MCF-7	breast:
19	chr7:80568680..80571770-chr7:81074314..81077443,3	MCF-7	breast:
20	chr7:80570260..80572576-chr7:81081719..81084256,2	MCF-7	breast:
21	chr7:80513607..80515938-chr7:80569348..80571961,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000091127	Chromatin interaction
ENSG00000232968	Chromatin interaction
ENSG00000237896	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10242487	1.00[ASN][1000 genomes]
rs10264043	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977933	1.00[CHB][hapmap]
rs12666421	1.00[CHB][hapmap]
rs12671203	1.00[CHB][hapmap]
rs12673546	1.00[CHB][hapmap]
rs4259358	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs767185	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs853034	1.00[ASN][1000 genomes]
rs853037	1.00[ASN][1000 genomes]
rs853059	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs853060	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972504	0.86[EUR][1000 genomes];1.00[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80569400-80572000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:80569400-80573400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:80569400-80573800	Enhancers	HMEC	breast
4	chr7:80569600-80571600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:80569600-80572200	Enhancers	HSMM	muscle
6	chr7:80569600-80572200	Enhancers	NHDF-Ad	bronchial
7	chr7:80569600-80572400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:80569600-80573200	Enhancers	NHLF	lung
9	chr7:80569800-80572000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr7:80569800-80572000	Enhancers	Rectal Smooth Muscle	rectum
11	chr7:80569800-80572200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:80569800-80572400	Enhancers	Hela-S3	cervix
13	chr7:80569800-80573000	Enhancers	NH-A	brain
14	chr7:80569800-80573000	Enhancers	Osteobl	bone
15	chr7:80570000-80572000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:80570000-80572000	Enhancers	Fetal Intestine Large	intestine
17	chr7:80570000-80572200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:80570000-80572200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:80570000-80572200	Enhancers	Fetal Intestine Small	intestine
20	chr7:80570000-80572200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:80570000-80572400	Enhancers	Adipose Nuclei	Adipose
22	chr7:80570000-80572800	Enhancers	Fetal Lung	lung
23	chr7:80570000-80573000	Enhancers	HUVEC	blood vessel
24	chr7:80570200-80572000	Enhancers	Stomach Smooth Muscle	stomach
25	chr7:80570200-80572200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr7:80570400-80571800	Weak transcription	Placenta	Placenta
27	chr7:80570600-80571600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:80570600-80572600	Enhancers	NHEK	skin
29	chr7:80570600-80573000	Enhancers	HSMMtube	muscle
30	chr7:80570800-80571600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:80570800-80571800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:80570800-80572000	Enhancers	Ovary	ovary
33	chr7:80570800-80572400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:80570800-80573800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr7:80571000-80571600	Weak transcription	Gastric	stomach
36	chr7:80571000-80571600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:80571000-80571800	Weak transcription	Fetal Kidney	kidney
38	chr7:80571200-80571600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:80571200-80571600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:80571200-80571600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr7:80571200-80571600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:80571200-80571600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
43	chr7:80571200-80571600	Flanking Active TSS	A549	lung
44	chr7:80571200-80571800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:80571200-80572200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr7:80571400-80572000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:80571400-80572000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr7:80571400-80572000	Enhancers	Fetal Heart	heart
49	chr7:80571400-80572000	Enhancers	Fetal Muscle Leg	muscle
50	chr7:80571400-80572200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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