Variant report

Variant	rs1962639
Chromosome Location	chr19:40847111-40847112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40846573..40849159-chr19:40852803..40855284,3	K562	blood:
2	chr19:40787579..40789839-chr19:40846986..40849835,2	MCF-7	breast:
3	chr19:40846921..40852460-chr19:40852861..40856555,6	K562	blood:

Variant related genes	Relation type
ENSG00000105221	Chromatin interaction
ENSG00000160392	Chromatin interaction
ENSG00000105223	Chromatin interaction
ENSG00000207631	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11083554	0.84[ASN][1000 genomes]
rs12151335	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12459567	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12460555	0.88[EUR][1000 genomes]
rs12460615	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12977474	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12985477	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1991460	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2368575	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35562135	0.87[EUR][1000 genomes]
rs3745195	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4479364	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4490097	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4502340	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4524046	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4802072	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4802076	0.85[ASN][1000 genomes]
rs4803324	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4803325	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4803326	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4803327	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803328	0.85[ASN][1000 genomes]
rs55710016	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57158010	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58502633	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59263025	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7259273	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73046335	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7507651	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7508513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8110323	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs890773	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40820800-40848400	Strong transcription	Dnd41	blood
2	chr19:40822000-40851000	Strong transcription	Fetal Stomach	stomach
3	chr19:40824200-40848600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr19:40824200-40849600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr19:40826400-40847400	Weak transcription	Right Atrium	heart
6	chr19:40826600-40853000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:40832200-40852800	Weak transcription	NHDF-Ad	bronchial
8	chr19:40834400-40853400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:40834800-40853600	Weak transcription	Small Intestine	intestine
10	chr19:40836000-40853600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:40837200-40848400	Weak transcription	Psoas Muscle	Psoas
12	chr19:40837400-40847600	Weak transcription	Colonic Mucosa	Colon
13	chr19:40837400-40853400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr19:40837400-40853600	Weak transcription	Stomach Mucosa	stomach
15	chr19:40837600-40847400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:40839800-40852800	Weak transcription	Hela-S3	cervix
17	chr19:40839800-40853400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:40840000-40847400	Weak transcription	HMEC	breast
19	chr19:40840000-40852800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr19:40840000-40852800	Weak transcription	HUVEC	blood vessel
21	chr19:40840000-40853400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr19:40840000-40853600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:40840200-40850400	Weak transcription	Osteobl	bone
24	chr19:40840200-40852800	Weak transcription	HepG2	liver
25	chr19:40840400-40850800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr19:40840400-40852800	Weak transcription	Fetal Kidney	kidney
27	chr19:40840400-40853000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:40840400-40853000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr19:40840400-40853000	Weak transcription	Fetal Brain Male	brain
30	chr19:40840400-40853400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr19:40841400-40853000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr19:40842000-40847400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:40842200-40847400	Weak transcription	Brain Angular Gyrus	brain
34	chr19:40842200-40847400	Weak transcription	Colon Smooth Muscle	Colon
35	chr19:40842200-40848600	Weak transcription	Gastric	stomach
36	chr19:40842200-40852800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr19:40842200-40853200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr19:40842200-40853600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr19:40842200-40853600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:40842400-40847200	Weak transcription	NHEK	skin
41	chr19:40842400-40847400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:40842400-40847400	Weak transcription	Brain Anterior Caudate	brain
43	chr19:40842400-40847400	Weak transcription	Brain Germinal Matrix	brain
44	chr19:40842400-40847400	Weak transcription	Fetal Brain Female	brain
45	chr19:40842400-40847400	Weak transcription	Lung	lung
46	chr19:40842400-40848800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr19:40842400-40849000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:40842400-40850600	Weak transcription	Brain Substantia Nigra	brain
49	chr19:40842400-40852800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:40842400-40853000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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