Variant report

Variant	rs73193633
Chromosome Location	chr3:121224518-121224519
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:121221546..121223153-chr3:121223525..121225297,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10212489	1.00[ASN][1000 genomes]
rs11555758	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3218647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35766343	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36065146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41541714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41544013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41551812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41561919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61427766	1.00[ASN][1000 genomes]
rs73179904	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179926	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179927	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179928	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179930	1.00[ASN][1000 genomes]
rs73179936	1.00[ASN][1000 genomes]
rs73183132	1.00[ASN][1000 genomes]
rs73183143	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183147	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183148	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183167	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183171	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183176	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183177	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183178	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183179	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191757	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191760	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191764	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191766	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191769	1.00[ASN][1000 genomes]
rs73191770	1.00[ASN][1000 genomes]
rs73191771	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191774	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191784	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191785	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191786	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191787	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191789	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191794	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191798	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73193618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[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	nsv829702	chr3:121045793-121227975	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121151200-121263800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:121177200-121237000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr3:121178200-121263800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:121183800-121234400	Weak transcription	Primary B cells from cord blood	blood
5	chr3:121186400-121255600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:121192200-121233600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:121193200-121237000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:121195600-121233800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr3:121197200-121233400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:121200600-121264000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:121201000-121227000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:121201000-121250600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:121202400-121263200	Weak transcription	NHLF	lung
14	chr3:121202400-121263800	Weak transcription	HSMM	muscle
15	chr3:121202600-121233400	Weak transcription	NHEK	skin
16	chr3:121202800-121236600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:121207200-121233400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:121208600-121233400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:121209400-121226800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:121209400-121263600	Weak transcription	NHDF-Ad	bronchial
21	chr3:121209600-121227800	Weak transcription	HMEC	breast
22	chr3:121209800-121228800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:121209800-121233400	Weak transcription	Thymus	Thymus
24	chr3:121210000-121226800	Weak transcription	HepG2	liver
25	chr3:121210000-121227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:121210000-121246400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:121210200-121241400	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:121210600-121225000	Weak transcription	K562	blood
29	chr3:121210600-121226200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr3:121213200-121228200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:121213600-121226200	Weak transcription	Fetal Intestine Small	intestine
32	chr3:121213800-121226600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:121214000-121230400	Weak transcription	Fetal Stomach	stomach
34	chr3:121216000-121225400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr3:121217600-121227000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:121217800-121228200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:121220400-121228400	Weak transcription	Fetal Kidney	kidney
38	chr3:121220800-121230800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:121221000-121229200	Strong transcription	Dnd41	blood
40	chr3:121221000-121232200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:121221200-121229200	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr3:121221400-121233400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:121221600-121229200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr3:121221800-121229200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr3:121222200-121232200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr3:121222400-121231400	Weak transcription	Hela-S3	cervix
47	chr3:121222600-121228000	Weak transcription	HUVEC	blood vessel
48	chr3:121222800-121225200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr3:121222800-121225400	Weak transcription	A549	lung
50	chr3:121222800-121227000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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