Variant report

Variant	rs7620372
Chromosome Location	chr3:110908395-110908396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10934077	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11929280	0.82[CEU][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap]
rs12485668	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1477846	0.81[MKK][hapmap]
rs1477850	0.82[CEU][hapmap]
rs2169643	0.89[ASW][hapmap];0.82[CEU][hapmap];0.89[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes]
rs7432996	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7433877	0.82[CEU][hapmap]
rs7610754	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs873132	0.82[CEU][hapmap]
rs9288918	0.82[CEU][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap]
rs9882945	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv829675	chr3:110885605-111101858	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv877339	chr3:110889974-111070554	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110832400-110911200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:110835600-110929600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:110842600-110911200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:110847000-110911400	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:110853000-110919600	Weak transcription	Fetal Brain Male	brain
6	chr3:110853200-110911000	Weak transcription	NH-A	brain
7	chr3:110869400-110929000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:110871000-110914200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:110872200-110913800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:110872600-110918800	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:110874200-110912000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:110874400-110911800	Weak transcription	Left Ventricle	heart
13	chr3:110874800-110913000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:110881000-110928000	Weak transcription	Osteobl	bone
15	chr3:110883800-110908400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:110890200-110913200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:110890800-110919800	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:110892000-110915800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:110892400-110911200	Weak transcription	Liver	Liver
20	chr3:110892400-110912800	Weak transcription	HepG2	liver
21	chr3:110892800-110910000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:110892800-110911000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:110892800-110911000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:110892800-110911200	Weak transcription	Adipose Nuclei	Adipose
25	chr3:110892800-110911600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:110893000-110910000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:110893000-110911400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:110893000-110916200	Weak transcription	A549	lung
29	chr3:110893200-110912200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr3:110893200-110912200	Weak transcription	NHDF-Ad	bronchial
31	chr3:110893400-110911400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:110894000-110922800	Weak transcription	Gastric	stomach
33	chr3:110894000-110924000	Weak transcription	Fetal Stomach	stomach
34	chr3:110894000-110934400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:110894200-110911400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:110894200-110913800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:110894200-110914200	Weak transcription	Aorta	Aorta
38	chr3:110894200-110924800	Weak transcription	Fetal Intestine Small	intestine
39	chr3:110894200-110925600	Weak transcription	NHLF	lung
40	chr3:110894200-110929600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:110894400-110908800	Weak transcription	Ovary	ovary
42	chr3:110898400-110910400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:110898400-110911400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:110899200-110935200	Weak transcription	Lung	lung
45	chr3:110901400-110918000	Weak transcription	Small Intestine	intestine
46	chr3:110903000-110918200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:110903400-110916400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr3:110903400-110929200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:110903600-110908600	Weak transcription	Dnd41	blood
50	chr3:110904200-110912400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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