Variant report

Variant	rs7622159
Chromosome Location	chr3:53295285-53295286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53287990..53291596-chr3:53294099..53296134,4	K562	blood:
2	chr3:53287990..53292357-chr3:53293600..53296534,6	K562	blood:
3	chr3:53292171..53295939-chr3:53301871..53305412,7	K562	blood:

Variant related genes	Relation type
ENSG00000163931	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];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10433618	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1108506	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11551405	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17030933	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17030934	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17234771	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17235667	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41275543	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56654807	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58558806	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59145995	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62252819	0.81[AMR][1000 genomes]
rs62255989	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62255993	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62255994	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62255999	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62256000	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62256003	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62256009	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62256043	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62256049	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62256050	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62256053	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62256962	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62256964	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62256965	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62256966	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62256968	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62256969	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62257004	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62257007	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62257009	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62257011	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62257013	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62257024	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6780100	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73080266	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73080271	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73080273	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73080295	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73082274	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9830594	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9830895	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9846315	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9850440	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9864057	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][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	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53290000-53295800	Weak transcription	Gastric	stomach
2	chr3:53290400-53295800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr3:53290400-53295800	Weak transcription	Spleen	Spleen
4	chr3:53290600-53295600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:53290600-53295600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:53290600-53295800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:53292400-53296200	Enhancers	Hela-S3	cervix
8	chr3:53292600-53296400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:53292600-53298000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:53293000-53297400	Enhancers	HMEC	breast
11	chr3:53293400-53296600	Enhancers	Adipose Nuclei	Adipose
12	chr3:53293600-53295800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr3:53293800-53295600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:53293800-53295600	Weak transcription	NHDF-Ad	bronchial
15	chr3:53294000-53295600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:53294000-53295600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:53294000-53295600	Weak transcription	HSMM	muscle
18	chr3:53294000-53295600	Weak transcription	NHLF	lung
19	chr3:53294000-53303600	Weak transcription	HSMMtube	muscle
20	chr3:53294200-53295600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:53294200-53295600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:53294200-53295600	Weak transcription	Esophagus	oesophagus
23	chr3:53294200-53298600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:53294200-53298600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr3:53294200-53298800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:53294200-53299200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:53294200-53300000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:53294200-53303600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:53294200-53303800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:53294400-53295600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr3:53294400-53295600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr3:53294400-53295600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:53294400-53295600	Weak transcription	Right Atrium	heart
34	chr3:53294400-53295800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:53294400-53298400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:53294400-53298400	Weak transcription	Right Ventricle	heart
37	chr3:53294400-53298600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:53294400-53298800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:53294400-53300200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:53294600-53295600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:53294600-53295600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:53294600-53295600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:53294600-53295600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:53294600-53295600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:53294600-53295600	Weak transcription	Left Ventricle	heart
46	chr3:53294600-53296400	Enhancers	HepG2	liver
47	chr3:53294600-53298800	Weak transcription	Brain Anterior Caudate	brain
48	chr3:53294600-53298800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr3:53294600-53300200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:53294600-53302000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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