Variant report

Variant	rs7620069
Chromosome Location	chr3:67450198-67450199
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13318110	1.00[EUR][1000 genomes]
rs2634726	1.00[EUR][1000 genomes]
rs60828897	1.00[AMR][1000 genomes]
rs72916798	1.00[EUR][1000 genomes]
rs72918943	1.00[AMR][1000 genomes]
rs72918957	1.00[AMR][1000 genomes]
rs72918980	1.00[AMR][1000 genomes]
rs72918987	1.00[AMR][1000 genomes]
rs72918992	1.00[AMR][1000 genomes]
rs72923138	1.00[AMR][1000 genomes]
rs72923169	1.00[AMR][1000 genomes]
rs72923174	1.00[AMR][1000 genomes]
rs73834518	1.00[AMR][1000 genomes]
rs9828107	1.00[EUR][1000 genomes]
rs9830987	1.00[AMR][1000 genomes]
rs9846683	1.00[EUR][1000 genomes]
rs9852077	1.00[EUR][1000 genomes]
rs9853254	1.00[AMR][1000 genomes]

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	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv834719	chr3:67396626-67589852	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67412400-67453000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:67414400-67470800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:67420200-67452000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:67420200-67479400	Weak transcription	Esophagus	oesophagus
5	chr3:67424600-67457000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:67424600-67466000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:67424600-67471000	Weak transcription	Colonic Mucosa	Colon
8	chr3:67425000-67465200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:67425000-67474200	Weak transcription	Gastric	stomach
10	chr3:67425800-67456000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:67427000-67462800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:67431600-67451000	Weak transcription	Pancreas	Pancrea
13	chr3:67431600-67469400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:67433600-67465800	Weak transcription	NHLF	lung
15	chr3:67435000-67466000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:67435400-67452600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:67435400-67452800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:67435400-67462800	Weak transcription	HSMMtube	muscle
19	chr3:67435400-67467200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:67435600-67450800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:67435600-67463200	Weak transcription	Fetal Lung	lung
22	chr3:67435600-67509800	Weak transcription	Ovary	ovary
23	chr3:67435600-67534200	Weak transcription	Aorta	Aorta
24	chr3:67435800-67462800	Weak transcription	Fetal Muscle Leg	muscle
25	chr3:67436000-67462800	Weak transcription	Right Ventricle	heart
26	chr3:67436200-67455400	Weak transcription	Left Ventricle	heart
27	chr3:67437400-67462200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:67440000-67470600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:67440600-67454800	Weak transcription	Fetal Kidney	kidney
30	chr3:67440800-67457400	Weak transcription	HepG2	liver
31	chr3:67441200-67471600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:67441800-67460200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr3:67442800-67450800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:67442800-67456200	Weak transcription	Thymus	Thymus
35	chr3:67442800-67465400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:67442800-67467200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:67442800-67478000	Weak transcription	Lung	lung
38	chr3:67443000-67462600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:67443400-67456200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr3:67444400-67450200	Weak transcription	Fetal Intestine Small	intestine
41	chr3:67446800-67460600	Weak transcription	Placenta	Placenta
42	chr3:67447600-67450400	Weak transcription	NHDF-Ad	bronchial
43	chr3:67447600-67454400	Weak transcription	NH-A	brain
44	chr3:67448400-67453000	Weak transcription	Brain Anterior Caudate	brain
45	chr3:67448800-67459200	Weak transcription	HUVEC	blood vessel
46	chr3:67449400-67486600	Weak transcription	Fetal Stomach	stomach
47	chr3:67449600-67450400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:67449600-67450600	Strong transcription	Primary B cells from cord blood	blood
49	chr3:67449600-67450600	Strong transcription	A549	lung
50	chr3:67449600-67451200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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