Variant report

Variant	rs36101520
Chromosome Location	chr19:45495579-45495580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45488015..45490279-chr19:45494640..45500188,5	K562	blood:
2	chr19:45392440..45393994-chr19:45494617..45497376,2	K562	blood:

Variant related genes	Relation type
ENSG00000104853	Chromatin interaction
ENSG00000130204	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12721060	1.00[YRI][hapmap]
rs34291375	0.90[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs394819	1.00[MEX][hapmap]

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	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv912141	chr19:45491174-45519100	Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45460400-45498800	Strong transcription	Fetal Stomach	stomach
2	chr19:45461600-45498800	Strong transcription	Fetal Intestine Small	intestine
3	chr19:45463000-45497600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:45475000-45496200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:45475200-45497600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr19:45475200-45498200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:45475800-45496200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr19:45475800-45497400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:45475800-45497600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:45475800-45498000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:45475800-45498200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:45475800-45498800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:45476000-45495800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr19:45476000-45496200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr19:45476000-45496400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:45476000-45497400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:45476000-45497400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr19:45476000-45497400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr19:45476000-45497400	Strong transcription	Thymus	Thymus
20	chr19:45476000-45497600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:45476000-45497600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:45476000-45497600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:45476000-45497600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr19:45476000-45497600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr19:45476000-45497800	Strong transcription	Fetal Intestine Large	intestine
26	chr19:45476000-45497800	Strong transcription	Lung	lung
27	chr19:45476000-45498000	Strong transcription	Fetal Muscle Leg	muscle
28	chr19:45476000-45498200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:45476000-45498200	Strong transcription	Placenta	Placenta
30	chr19:45476200-45497400	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr19:45476200-45498000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:45476200-45498200	Strong transcription	Fetal Brain Female	brain
33	chr19:45476200-45498800	Strong transcription	Brain Germinal Matrix	brain
34	chr19:45476400-45496800	Strong transcription	Left Ventricle	heart
35	chr19:45476400-45498000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:45476600-45497800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:45477000-45496400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:45477200-45497000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr19:45477400-45496200	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr19:45478800-45497600	Strong transcription	Liver	Liver
41	chr19:45479200-45504200	Weak transcription	Right Atrium	heart
42	chr19:45480800-45495800	Weak transcription	Psoas Muscle	Psoas
43	chr19:45480800-45504200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr19:45481000-45504200	Weak transcription	Stomach Mucosa	stomach
45	chr19:45481200-45504200	Weak transcription	Hela-S3	cervix
46	chr19:45483400-45498200	Weak transcription	NHDF-Ad	bronchial
47	chr19:45483400-45504200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr19:45483400-45504200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr19:45483400-45504200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:45483400-45504200	Weak transcription	HMEC	breast

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