Variant report

Variant	rs2905430
Chromosome Location	chr19:19482608-19482609
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19482280..19483882-chr19:19495466..19497666,2	K562	blood:
2	chr19:19482280..19485550-chr19:19495820..19498182,3	K562	blood:
3	chr19:19480922..19483739-chr19:19588283..19591150,2	MCF-7	breast:
4	chr19:19482436..19485399-chr19:19514974..19516831,2	K562	blood:
5	chr19:19476462..19478976-chr19:19482373..19484505,3	K562	blood:
6	chr19:19478621..19480649-chr19:19481501..19483639,2	K562	blood:

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1000237	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10402451	0.82[AFR][1000 genomes]
rs10405625	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10410664	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10414830	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10419912	0.82[AFR][1000 genomes]
rs12460764	0.80[AMR][1000 genomes]
rs12975119	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12985655	0.80[AMR][1000 genomes]
rs13964	0.81[AMR][1000 genomes]
rs1469712	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1469713	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs15622	0.81[AMR][1000 genomes]
rs1858999	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2074088	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2074089	0.80[AMR][1000 genomes]
rs2074090	0.80[AMR][1000 genomes]
rs2074091	0.80[AMR][1000 genomes]
rs2099334	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2301669	0.80[AMR][1000 genomes]
rs2315279	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2315281	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2315283	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2315610	0.82[AFR][1000 genomes]
rs2872878	0.88[AFR][1000 genomes]
rs2905423	0.80[AMR][1000 genomes]
rs2905424	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2905425	0.81[EUR][1000 genomes]
rs2905427	0.85[EUR][1000 genomes]
rs2905431	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2905432	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2905435	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2916069	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2916073	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2916074	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2916076	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2965175	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2965180	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2965182	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2965183	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2965185	0.86[AFR][1000 genomes]
rs2965188	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2965189	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2965191	0.80[AMR][1000 genomes]
rs2965198	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2965199	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2965200	0.85[EUR][1000 genomes]
rs34277109	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34538000	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35418933	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3794990	0.82[AFR][1000 genomes]
rs4808202	0.82[AMR][1000 genomes]
rs4808957	0.82[AMR][1000 genomes]
rs4808959	0.83[AMR][1000 genomes]
rs4808961	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6511030	0.81[AMR][1000 genomes]
rs6511032	0.83[AMR][1000 genomes]
rs6511038	0.81[AFR][1000 genomes]
rs7246748	0.80[AMR][1000 genomes]
rs7254230	0.80[AMR][1000 genomes]
rs7256149	0.84[AMR][1000 genomes]
rs747050	0.82[AFR][1000 genomes]
rs8101499	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8103197	0.80[AMR][1000 genomes]
rs892021	0.81[AFR][1000 genomes]
rs9917108	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr19:19465200-19483600	Weak transcription	NH-A	brain
2	chr19:19469800-19488400	Weak transcription	Gastric	stomach
3	chr19:19475800-19488000	Weak transcription	Small Intestine	intestine
4	chr19:19476200-19483200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:19476200-19483600	Weak transcription	Fetal Intestine Large	intestine
6	chr19:19476200-19483600	Weak transcription	NHLF	lung
7	chr19:19476200-19483800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:19476200-19488200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:19476200-19488400	Weak transcription	Right Atrium	heart
10	chr19:19477800-19482800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr19:19477800-19483000	Weak transcription	Primary B cells from cord blood	blood
12	chr19:19477800-19483000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:19477800-19483200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr19:19477800-19483200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:19477800-19483200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr19:19477800-19483200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr19:19477800-19483600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr19:19477800-19483600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:19477800-19483600	Weak transcription	Brain Hippocampus Middle	brain
20	chr19:19477800-19483600	Weak transcription	NHDF-Ad	bronchial
21	chr19:19477800-19488400	Weak transcription	Fetal Muscle Leg	muscle
22	chr19:19477800-19488600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:19477800-19488600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:19478000-19482800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr19:19478000-19482800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr19:19478000-19483000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr19:19478000-19483000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr19:19478000-19483000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:19478000-19483200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:19478000-19483400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr19:19478000-19483400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:19478000-19483400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:19478000-19483400	Weak transcription	Left Ventricle	heart
34	chr19:19478000-19483400	Weak transcription	GM12878-XiMat	blood
35	chr19:19478000-19483600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:19478000-19483800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr19:19478000-19488000	Weak transcription	Pancreas	Pancrea
38	chr19:19478000-19488200	Weak transcription	Spleen	Spleen
39	chr19:19478000-19488600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr19:19478200-19483000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:19478200-19483000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:19478200-19483600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:19478800-19495800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:19481400-19484600	Enhancers	Placenta	Placenta
45	chr19:19481600-19483400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr19:19481800-19483400	Weak transcription	Fetal Intestine Small	intestine
47	chr19:19481800-19484800	Enhancers	Lung	lung
48	chr19:19482200-19483400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr19:19482200-19483400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr19:19482200-19483400	Weak transcription	Rectal Mucosa Donor 31	rectum

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