Variant report

Variant	rs2075474
Chromosome Location	chr19:36612396-36612397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36612383-36613111	PANC-1	pancreas:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36612371-36612421	HCM	heart:	n/a
2	chr19:36612371-36612421	NH-A	brain:	n/a
3	chr19:36612371-36612421	HRCEpiC	kidney:	n/a
4	chr19:36612371-36612421	GM19239	blood:	n/a
5	chr19:36612371-36612421	PrEC	prostate:	n/a
6	chr19:36612371-36612421	NHBE	bronchial:	n/a
7	chr19:36612371-36612421	HMEC	breast:	n/a
8	chr19:36612371-36612421	Jurkat	blood:	n/a
9	chr19:36612371-36612421	K562	blood:	n/a
10	chr19:36612371-36612421	AG04450	lung:	fetal
11	chr19:36612371-36612421	PANC-1	pancreas:	n/a
12	chr19:36612371-36612421	HepG2	liver:	n/a
13	chr19:36612371-36612421	Hela-S3	cervix:	n/a
14	chr19:36612371-36612421	PFSK-1	brain:	n/a
15	chr19:36612371-36612421	MCF-7	breast:	n/a
16	chr19:36612371-36612421	HCPEpiC	choroid plexus:	n/a
17	chr19:36612371-36612421	AG09319	gingival:	n/a
18	chr19:36612371-36612421	HCF	heart:	n/a
19	chr19:36612371-36612421	ProgFib	skin:	n/a
20	chr19:36612371-36612421	GM12891	blood:	n/a
21	chr19:36612371-36612421	SKMC	muscle:	n/a
22	chr19:36612371-36612421	A549	lung:	n/a
23	chr19:36612371-36612421	GM12892	blood:	n/a
24	chr19:36612371-36612421	HEEpiC	esophagus:	n/a
25	chr19:36612371-36612421	ECC-1	luminal epithelium:	n/a
26	chr19:36612371-36612421	HNPCEpiC	eye:	n/a
27	chr19:36612371-36612421	IMR90	lung:	fetal
28	chr19:36612371-36612421	RPTEC	kidney:	n/a
29	chr19:36612371-36612421	Caco-2	colon:	n/a
30	chr19:36612371-36612421	ovcar-3	ovarian:	n/a
31	chr19:36612371-36612421	H1-hESC	embryonic stem cell:	embryo
32	chr19:36612371-36612421	HCT-116	colon:	n/a
33	chr19:36612371-36612421	SK-N-SH	brain:	n/a
34	chr19:36612371-36612421	SK-N-MC	brain:	n/a
35	chr19:36612371-36612421	HIPEpiC	eye:	n/a
36	chr19:36612371-36612421	HAEpiC	amniotic membrane:	n/a
37	chr19:36612371-36612421	BE2_C	brain:	n/a
38	chr19:36612371-36612421	HEK293	kidney:	embryo
39	chr19:36612371-36612421	HPAEpiC	pulmonary alveolar:	n/a
40	chr19:36612371-36612421	GM06990	blood:	n/a
41	chr19:36612371-36612421	Hepatocyte	liver:	n/a
42	chr19:36612371-36612421	LNCaP	prostate:	n/a
43	chr19:36612371-36612421	NHDF-neo	bronchial:	n/a
44	chr19:36612371-36612421	SAEC	small airway:	n/a
45	chr19:36612371-36612421	T-47D	breast:	n/a
46	chr19:36612371-36612421	AG10803	skin:	n/a
47	chr19:36612371-36612421	U87	brain:	n/a
48	chr19:36612371-36612421	HRE	kidney:	n/a
49	chr19:36612371-36612421	AG04449	skin:	fetal
50	chr19:36612371-36612421	HUVEC	blood vessel:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36604785..36608680-chr19:36610341..36613498,5	K562	blood:

No data

Variant related genes	Relation type
TBCB	TF binding region
TBCB	CpG island
ENSG00000105254	Chromatin interaction
ENSG00000105258	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10407011	1.00[ASN][1000 genomes]
rs10426582	0.87[AMR][1000 genomes]
rs12972660	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12977802	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12979093	0.87[AMR][1000 genomes]
rs2072606	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2239510	1.00[ASN][1000 genomes]
rs34906485	0.82[AMR][1000 genomes]
rs4805154	0.81[AMR][1000 genomes]
rs4805155	0.86[AMR][1000 genomes]
rs4806252	0.86[AMR][1000 genomes]
rs4806253	0.87[AMR][1000 genomes]
rs4806279	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4806280	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56034793	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62109743	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6510521	0.82[EUR][1000 genomes]
rs7245762	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7250448	0.87[AMR][1000 genomes]
rs7257383	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8100250	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36607200-36618600	Weak transcription	Psoas Muscle	Psoas
2	chr19:36607400-36612800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:36607400-36612800	Weak transcription	HSMMtube	muscle
4	chr19:36607400-36613800	Weak transcription	HSMM	muscle
5	chr19:36607400-36617000	Strong transcription	Thymus	Thymus
6	chr19:36607400-36617200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr19:36607400-36618400	Weak transcription	Stomach Mucosa	stomach
8	chr19:36607400-36618600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:36607400-36618800	Weak transcription	Small Intestine	intestine
10	chr19:36607600-36612400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:36607600-36612400	Strong transcription	NHEK	skin
12	chr19:36607600-36614800	Weak transcription	HUVEC	blood vessel
13	chr19:36607600-36615400	Strong transcription	Fetal Lung	lung
14	chr19:36607600-36616000	Weak transcription	Fetal Kidney	kidney
15	chr19:36607600-36617000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:36607600-36617000	Strong transcription	Primary T cells from cord blood	blood
17	chr19:36607600-36617000	Strong transcription	Brain Germinal Matrix	brain
18	chr19:36607600-36617000	Strong transcription	Fetal Muscle Leg	muscle
19	chr19:36607600-36617000	Strong transcription	Osteobl	bone
20	chr19:36607600-36617200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:36607600-36617200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:36607600-36617200	Strong transcription	Placenta	Placenta
23	chr19:36607600-36618400	Weak transcription	K562	blood
24	chr19:36607800-36617000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:36608000-36613200	Strong transcription	Fetal Thymus	thymus
26	chr19:36608000-36616800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:36608000-36617000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr19:36608000-36617000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:36608000-36617000	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr19:36608000-36617200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:36608000-36617200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:36608000-36617200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr19:36608000-36617200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:36608000-36617200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:36608000-36617200	Strong transcription	Adipose Nuclei	Adipose
36	chr19:36608000-36617200	Strong transcription	Spleen	Spleen
37	chr19:36608000-36617200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr19:36608000-36617800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr19:36608000-36618000	Strong transcription	Fetal Stomach	stomach
40	chr19:36608200-36615800	Weak transcription	Hela-S3	cervix
41	chr19:36608200-36617000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr19:36608200-36617000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr19:36608200-36617200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:36608200-36617200	Strong transcription	A549	lung
45	chr19:36608200-36618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr19:36608400-36612800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr19:36608400-36614200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr19:36608400-36616000	Weak transcription	HMEC	breast
49	chr19:36608400-36616200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:36608600-36613800	Weak transcription	Fetal Brain Male	brain

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