Variant report

Variant	rs56854596
Chromosome Location	chr19:36854202-36854203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16971042	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16971046	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17464619	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2385798	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2891870	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57085758	0.86[AFR][1000 genomes]
rs59953432	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60043543	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7254161	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73602361	0.91[AFR][1000 genomes]
rs73602365	0.91[AFR][1000 genomes]
rs73602375	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73608310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73608312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73608349	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73608364	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73608381	0.88[AFR][1000 genomes]
rs73614529	0.91[AFR][1000 genomes];1.00[AMR][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	nsv2474	chr19:36804469-36865415	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv174	chr19:36831719-36865415	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv579459	chr19:36845537-36856379	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36827200-36862200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:36830600-36869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:36832200-36868600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:36834000-36857400	Weak transcription	Brain Substantia Nigra	brain
5	chr19:36834200-36868800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr19:36835800-36857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:36835800-36868800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr19:36836400-36858400	Weak transcription	Osteobl	bone
9	chr19:36836400-36868000	Weak transcription	Psoas Muscle	Psoas
10	chr19:36836600-36857200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:36836600-36863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr19:36838000-36868600	Weak transcription	Stomach Mucosa	stomach
13	chr19:36838200-36855000	Weak transcription	HSMM	muscle
14	chr19:36840000-36855000	Weak transcription	Right Ventricle	heart
15	chr19:36840000-36856000	Weak transcription	Fetal Lung	lung
16	chr19:36841200-36854800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:36842400-36861200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:36844200-36868800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:36845200-36858200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:36845800-36859200	Weak transcription	Fetal Thymus	thymus
21	chr19:36846000-36855000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:36846600-36866400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:36847200-36859200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr19:36847200-36859800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr19:36847400-36862200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
26	chr19:36847600-36855800	Weak transcription	Fetal Muscle Leg	muscle
27	chr19:36848200-36860200	Weak transcription	NHDF-Ad	bronchial
28	chr19:36848400-36861000	Weak transcription	NH-A	brain
29	chr19:36848800-36862000	Weak transcription	Hela-S3	cervix
30	chr19:36850000-36854800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr19:36850000-36855000	Weak transcription	Colonic Mucosa	Colon
32	chr19:36850000-36857200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:36850000-36868000	Weak transcription	Fetal Heart	heart
34	chr19:36850200-36855000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr19:36850400-36859200	Strong transcription	Fetal Intestine Large	intestine
36	chr19:36850800-36862000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr19:36851000-36854400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:36851400-36855000	Weak transcription	Esophagus	oesophagus
39	chr19:36851400-36855000	Weak transcription	Pancreas	Pancrea
40	chr19:36851400-36857600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr19:36851600-36856000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:36851800-36855000	Weak transcription	Left Ventricle	heart
43	chr19:36851800-36855000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr19:36851800-36856400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:36851800-36857200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr19:36851800-36857400	Weak transcription	HSMMtube	muscle
47	chr19:36851800-36863600	Weak transcription	Fetal Kidney	kidney
48	chr19:36852200-36867600	Weak transcription	HepG2	liver
49	chr19:36852400-36856000	Weak transcription	Fetal Intestine Small	intestine
50	chr19:36852600-36854400	Weak transcription	Fetal Stomach	stomach

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