Variant report

Variant	rs17194944
Chromosome Location	chr3:67441775-67441776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11922554	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17046411	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17194748	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17807645	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4258985	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56836042	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58040840	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61342002	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7642811	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7652000	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][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:73 , 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	chr3:67413200-67441800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:67414400-67470800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:67418600-67442600	Weak transcription	Dnd41	blood
5	chr3:67420200-67441800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr3:67420200-67449600	Weak transcription	HSMM	muscle
7	chr3:67420200-67452000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:67420200-67479400	Weak transcription	Esophagus	oesophagus
9	chr3:67421800-67441800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:67423200-67441800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:67424600-67457000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:67424600-67466000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:67424600-67471000	Weak transcription	Colonic Mucosa	Colon
14	chr3:67425000-67465200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:67425000-67474200	Weak transcription	Gastric	stomach
16	chr3:67425600-67443200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:67425800-67456000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:67426800-67441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr3:67427000-67462800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:67427400-67442000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:67427400-67450000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr3:67428200-67442000	Weak transcription	Lung	lung
23	chr3:67429200-67449800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr3:67430400-67442000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr3:67431000-67441800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:67431000-67441800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:67431200-67442400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr3:67431400-67442000	Weak transcription	Fetal Intestine Small	intestine
29	chr3:67431600-67449600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:67431600-67451000	Weak transcription	Pancreas	Pancrea
31	chr3:67431600-67469400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:67433400-67449600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:67433600-67449600	Weak transcription	A549	lung
34	chr3:67433600-67465800	Weak transcription	NHLF	lung
35	chr3:67433800-67442000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:67435000-67466000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:67435200-67449600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:67435400-67452600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:67435400-67452800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr3:67435400-67462800	Weak transcription	HSMMtube	muscle
41	chr3:67435400-67467200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:67435600-67442200	Weak transcription	Adipose Nuclei	Adipose
43	chr3:67435600-67449800	Weak transcription	Osteobl	bone
44	chr3:67435600-67450800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:67435600-67463200	Weak transcription	Fetal Lung	lung
46	chr3:67435600-67509800	Weak transcription	Ovary	ovary
47	chr3:67435600-67534200	Weak transcription	Aorta	Aorta
48	chr3:67435800-67442600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr3:67435800-67462800	Weak transcription	Fetal Muscle Leg	muscle
50	chr3:67436000-67442400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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