Variant report

Variant	rs4730109
Chromosome Location	chr7:105475847-105475848
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:105474149..105476607-chr7:105481698..105484393,2	K562	blood:
2	chr7:105475286..105478263-chr7:105479596..105482018,2	MCF-7	breast:
3	chr7:105474212..105475968-chr7:105515772..105517446,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128536	Chromatin interaction
ENSG00000146776	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12672355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12673582	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2158896	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2190449	1.00[EUR][1000 genomes]
rs2392642	0.81[ASN][1000 genomes]
rs2392643	0.83[ASN][1000 genomes]
rs2893575	0.83[ASN][1000 genomes]
rs2893576	0.81[ASN][1000 genomes]
rs4730111	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4730112	1.00[EUR][1000 genomes]
rs59968213	1.00[EUR][1000 genomes]
rs60969020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6948917	0.82[ASN][1000 genomes]
rs73193826	0.98[EUR][1000 genomes]
rs73193830	1.00[EUR][1000 genomes]
rs73193837	0.98[EUR][1000 genomes]
rs73193838	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs997438	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105430200-105479200	Weak transcription	Aorta	Aorta
2	chr7:105449000-105479200	Weak transcription	Esophagus	oesophagus
3	chr7:105457200-105478000	Weak transcription	Brain Anterior Caudate	brain
4	chr7:105465400-105506600	Weak transcription	Fetal Intestine Large	intestine
5	chr7:105468200-105478200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:105468400-105478800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:105469000-105479200	Weak transcription	Right Atrium	heart
8	chr7:105471400-105476400	Weak transcription	Brain Germinal Matrix	brain
9	chr7:105471400-105477400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:105471600-105476800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:105471600-105478000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:105471600-105478000	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:105471600-105478000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:105471600-105479200	Weak transcription	Fetal Thymus	thymus
15	chr7:105471600-105479800	Weak transcription	Gastric	stomach
16	chr7:105471800-105476000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:105471800-105476000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:105471800-105476400	Weak transcription	Fetal Brain Female	brain
19	chr7:105471800-105478000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:105471800-105478000	Weak transcription	Lung	lung
21	chr7:105471800-105478000	Weak transcription	Right Ventricle	heart
22	chr7:105471800-105478000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:105471800-105478800	Weak transcription	Ovary	ovary
24	chr7:105471800-105483600	Weak transcription	Pancreas	Pancrea
25	chr7:105471800-105484000	Weak transcription	Primary T cells from cord blood	blood
26	chr7:105472000-105478200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:105472200-105476000	Weak transcription	HepG2	liver
28	chr7:105472200-105478600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:105472400-105477800	Weak transcription	Adipose Nuclei	Adipose
30	chr7:105472400-105478000	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:105472400-105478000	Weak transcription	Left Ventricle	heart
32	chr7:105472400-105478800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:105472400-105479000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:105472400-105489800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:105472600-105476000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:105472600-105478000	Weak transcription	Fetal Heart	heart
37	chr7:105472600-105478000	Weak transcription	Psoas Muscle	Psoas
38	chr7:105472600-105478000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:105472600-105478000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:105472600-105478000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr7:105472600-105479000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:105473000-105494400	Weak transcription	Fetal Lung	lung
43	chr7:105473200-105478000	Weak transcription	NHDF-Ad	bronchial
44	chr7:105473200-105478000	Weak transcription	NHLF	lung
45	chr7:105473200-105478400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr7:105473200-105479000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:105473200-105490000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:105473400-105477800	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:105473400-105478600	Weak transcription	NHEK	skin
50	chr7:105473400-105484400	Weak transcription	Hela-S3	cervix

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