Variant report

Variant	rs73080271
Chromosome Location	chr3:53328868-53328869
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53323535..53325226-chr3:53326993..53329729,2	K562	blood:

Variant related genes	Relation type
ENSG00000206902	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10433617	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10433618	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1108506	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11551405	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17030933	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17030934	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17234771	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17235667	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41275543	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56654807	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58558806	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59145995	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62252819	0.81[AMR][1000 genomes]
rs62255989	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62255993	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62255994	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62255999	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256000	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256003	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256009	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256043	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256050	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62256053	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256962	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256964	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256965	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256966	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256968	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256969	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62257004	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62257007	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62257009	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62257011	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62257013	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62257024	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6780100	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73080266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73080273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73080295	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73082274	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7622159	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9830594	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9830895	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9846315	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9850440	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9864057	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876801	chr3:53325905-53467506	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv876802	chr3:53325905-53470863	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53309400-53351200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:53312200-53337400	Weak transcription	Psoas Muscle	Psoas
3	chr3:53315200-53333800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr3:53315200-53338400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr3:53316400-53333600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr3:53316400-53337600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:53316600-53329200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:53316600-53333600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr3:53316600-53333800	Strong transcription	Placenta	Placenta
10	chr3:53316600-53338600	Strong transcription	Fetal Muscle Leg	muscle
11	chr3:53317200-53332600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:53317400-53332200	Weak transcription	Small Intestine	intestine
13	chr3:53317800-53329200	Strong transcription	Fetal Intestine Small	intestine
14	chr3:53317800-53330600	Strong transcription	Fetal Stomach	stomach
15	chr3:53318000-53329200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:53318000-53345000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr3:53318000-53345800	Weak transcription	Stomach Mucosa	stomach
18	chr3:53320600-53332400	Weak transcription	Hela-S3	cervix
19	chr3:53321800-53337400	Weak transcription	Fetal Kidney	kidney
20	chr3:53321800-53347600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:53322000-53330000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:53322400-53329000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:53322400-53332400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:53322400-53333800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:53322400-53343600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:53322400-53344800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:53322400-53353600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:53322600-53331000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:53322600-53332000	Weak transcription	NH-A	brain
30	chr3:53322600-53332200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:53322600-53332400	Weak transcription	Fetal Brain Male	brain
32	chr3:53322600-53337400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:53322800-53329000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:53323400-53330400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:53323600-53339400	Strong transcription	Fetal Intestine Large	intestine
36	chr3:53323800-53329000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr3:53323800-53329000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr3:53324000-53333400	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr3:53324000-53340400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:53324200-53329200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:53325400-53333800	Strong transcription	Dnd41	blood
42	chr3:53325600-53330800	Strong transcription	Primary T cells from cord blood	blood
43	chr3:53326000-53329200	Strong transcription	Spleen	Spleen
44	chr3:53326200-53330000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr3:53326600-53330200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:53326600-53330400	Weak transcription	A549	lung
47	chr3:53326600-53331800	Weak transcription	HSMM	muscle
48	chr3:53326600-53332400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr3:53326600-53333000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr3:53326600-53333400	Weak transcription	Fetal Heart	heart

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