Variant report

Variant	rs4730984
Chromosome Location	chr7:120655676-120655677
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr7:120655411-120655895	K562	blood:	n/a	n/a
2	MAFK	chr7:120655529-120655726	K562	blood:	n/a	n/a
3	JUND	chr7:120655401-120655723	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CPED1	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10245811	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11976117	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12666371	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12671499	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12673175	0.88[AFR][1000 genomes]
rs16870531	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41696	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41699	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41700	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41701	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41705	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62470917	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782014	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7802570	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7802665	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030988	chr7:120636796-120672504	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120637200-120663600	Weak transcription	Right Ventricle	heart
2	chr7:120647200-120657000	Weak transcription	Fetal Kidney	kidney
3	chr7:120647200-120658800	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:120647400-120656600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:120647600-120656200	Weak transcription	NHLF	lung
6	chr7:120647800-120657800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:120648000-120656200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:120648000-120656400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:120649400-120663600	Weak transcription	Left Ventricle	heart
10	chr7:120651800-120656400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:120652600-120660600	Genic enhancers	K562	blood
12	chr7:120652800-120663800	Weak transcription	Small Intestine	intestine
13	chr7:120653200-120656600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:120653200-120656600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:120653200-120657600	Weak transcription	Fetal Lung	lung
16	chr7:120653400-120656400	Weak transcription	Fetal Stomach	stomach
17	chr7:120653400-120656800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:120653400-120663600	Weak transcription	Psoas Muscle	Psoas
19	chr7:120653800-120655800	Weak transcription	Adipose Nuclei	Adipose
20	chr7:120653800-120655800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:120653800-120656400	Weak transcription	HSMMtube	muscle
22	chr7:120654200-120655800	Weak transcription	Liver	Liver
23	chr7:120654600-120659600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:120654800-120655800	Enhancers	Fetal Heart	heart
25	chr7:120654800-120658000	Enhancers	Stomach Smooth Muscle	stomach
26	chr7:120654800-120663600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:120655000-120658000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:120655000-120660200	Enhancers	Colon Smooth Muscle	Colon
29	chr7:120655200-120656000	Enhancers	Ovary	ovary
30	chr7:120655200-120656000	Enhancers	Right Atrium	heart
31	chr7:120655200-120656600	Strong transcription	HSMM	muscle
32	chr7:120655400-120657000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:120655600-120656400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:120655600-120656400	Strong transcription	NHDF-Ad	bronchial
35	chr7:120655600-120656600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:120655600-120657000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:120655600-120657000	Weak transcription	Aorta	Aorta

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