Variant report

Variant	rs4730111
Chromosome Location	chr7:105483329-105483330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105474149..105476607-chr7:105481698..105484393,2	K562	blood:

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

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

rs_ID	r²[population]
rs12672355	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12673582	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2158896	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190449	0.98[EUR][1000 genomes]
rs2392642	0.83[ASN][1000 genomes]
rs2392643	0.85[ASN][1000 genomes]
rs2893575	0.85[ASN][1000 genomes]
rs2893576	0.83[ASN][1000 genomes]
rs4730109	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4730112	0.98[EUR][1000 genomes]
rs59968213	0.98[EUR][1000 genomes]
rs60969020	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948917	0.84[ASN][1000 genomes]
rs73193826	0.97[EUR][1000 genomes]
rs73193830	0.98[EUR][1000 genomes]
rs73193837	0.97[EUR][1000 genomes]
rs73193838	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997438	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105465400-105506600	Weak transcription	Fetal Intestine Large	intestine
2	chr7:105471800-105483600	Weak transcription	Pancreas	Pancrea
3	chr7:105471800-105484000	Weak transcription	Primary T cells from cord blood	blood
4	chr7:105472400-105489800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:105473000-105494400	Weak transcription	Fetal Lung	lung
6	chr7:105473200-105490000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:105473400-105484400	Weak transcription	Hela-S3	cervix
8	chr7:105478600-105483400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:105478800-105484200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:105479000-105483400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:105479400-105483800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:105479400-105490000	Weak transcription	NHDF-Ad	bronchial
13	chr7:105479400-105494400	Weak transcription	Brain Angular Gyrus	brain
14	chr7:105479600-105483600	Weak transcription	Fetal Intestine Small	intestine
15	chr7:105479600-105487600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:105479600-105489600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:105479600-105489600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:105479600-105489800	Weak transcription	HSMM	muscle
19	chr7:105479600-105494400	Weak transcription	Fetal Kidney	kidney
20	chr7:105479600-105506200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:105479800-105489800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:105480000-105483800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:105480000-105487600	Weak transcription	Aorta	Aorta
24	chr7:105480000-105489000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:105480000-105489200	Weak transcription	Gastric	stomach
26	chr7:105480000-105489200	Weak transcription	Left Ventricle	heart
27	chr7:105480000-105489200	Weak transcription	Right Ventricle	heart
28	chr7:105480000-105489600	Weak transcription	A549	lung
29	chr7:105480000-105490000	Weak transcription	Stomach Mucosa	stomach
30	chr7:105480000-105492800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:105480000-105494400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:105480000-105494400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:105480000-105494400	Weak transcription	Brain Substantia Nigra	brain
34	chr7:105480000-105494400	Weak transcription	Osteobl	bone
35	chr7:105480000-105494800	Weak transcription	Brain Anterior Caudate	brain
36	chr7:105480000-105515600	Weak transcription	Ovary	ovary
37	chr7:105480600-105489200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:105480600-105489200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:105480600-105494200	Weak transcription	Brain Germinal Matrix	brain
40	chr7:105481000-105494400	Weak transcription	Fetal Brain Female	brain
41	chr7:105481200-105486600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:105481200-105489200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:105481200-105489200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:105481200-105489200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:105481400-105484400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:105481400-105486600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr7:105481400-105488000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:105481400-105488800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:105481400-105489000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr7:105481600-105487800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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