Variant report

Variant	rs73179919
Chromosome Location	chr3:121256593-121256594
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10212489	1.00[ASN][1000 genomes]
rs11555758	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3218647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35766343	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36065146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41541714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41544013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41551812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41561919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61427766	1.00[ASN][1000 genomes]
rs73179904	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179926	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73179927	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73179928	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73179930	1.00[ASN][1000 genomes]
rs73179936	1.00[ASN][1000 genomes]
rs73183143	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183147	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183148	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73183167	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183171	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183176	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183177	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183178	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183179	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191757	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191760	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191764	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191766	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191769	1.00[ASN][1000 genomes]
rs73191770	1.00[ASN][1000 genomes]
rs73191771	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191774	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191784	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191785	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191786	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191787	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191789	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191794	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191798	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73193618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9829579	1.00[ASN][1000 genomes]
rs9862879	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
7	nsv877381	chr3:121192350-121343500	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv999349	chr3:121253990-121360206	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121151200-121263800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:121178200-121263800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:121200600-121264000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:121202400-121263200	Weak transcription	NHLF	lung
5	chr3:121202400-121263800	Weak transcription	HSMM	muscle
6	chr3:121209400-121263600	Weak transcription	NHDF-Ad	bronchial
7	chr3:121229600-121263000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:121230800-121260200	Strong transcription	Dnd41	blood
9	chr3:121232200-121263800	Weak transcription	Fetal Heart	heart
10	chr3:121233400-121263000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:121234000-121264000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:121234200-121263600	Weak transcription	Osteobl	bone
13	chr3:121234200-121264000	Weak transcription	Fetal Intestine Large	intestine
14	chr3:121234400-121263200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:121234600-121263600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:121235000-121263800	Weak transcription	Primary B cells from cord blood	blood
17	chr3:121235000-121264000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:121235400-121263600	Weak transcription	Brain Germinal Matrix	brain
19	chr3:121235600-121262600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr3:121235600-121263600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:121235600-121263600	Weak transcription	NH-A	brain
22	chr3:121235800-121263400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:121236000-121262600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:121236600-121263400	Weak transcription	Fetal Intestine Small	intestine
25	chr3:121236600-121264000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:121236600-121264200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:121237400-121264000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:121237600-121263600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:121237600-121264000	Weak transcription	Fetal Lung	lung
30	chr3:121239200-121263200	Weak transcription	NHEK	skin
31	chr3:121239600-121264000	Weak transcription	Fetal Stomach	stomach
32	chr3:121241800-121263600	Weak transcription	Fetal Muscle Leg	muscle
33	chr3:121243000-121259600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr3:121243000-121262800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:121243000-121263000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:121243400-121258600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:121243800-121258800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:121244200-121262800	Strong transcription	Fetal Thymus	thymus
39	chr3:121244200-121263400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:121244400-121258400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr3:121245200-121259600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr3:121245800-121257000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:121246400-121261000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr3:121247000-121256800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr3:121247400-121259600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr3:121247800-121261800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr3:121249600-121258800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:121250000-121264000	Weak transcription	Thymus	Thymus
49	chr3:121250400-121258600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:121251200-121257800	Weak transcription	K562	blood

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