Variant report

Variant	rs3786880
Chromosome Location	chr19:38776676-38776677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:38776454-38777093	PANC-1	pancreas:	n/a	n/a
2	RCOR1	chr19:38776202-38777130	IMR90	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38776212..38777866-chr19:38786974..38788625,2	MCF-7	breast:
2	chr19:38751509..38754892-chr19:38775183..38778816,3	K562	blood:
3	chr19:38775802..38777505-chr19:38778301..38781243,2	K562	blood:
4	chr19:38776349..38778881-chr19:38795381..38797610,2	K562	blood:
5	chr19:38770260..38772183-chr19:38775620..38777576,2	K562	blood:

No data

Variant related genes	Relation type
SPINT2	TF binding region
ENSG00000267748	TF binding region
ENSG00000167642	Chromatin interaction
ENSG00000267748	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2270092	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3745953	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3745963	0.82[JPT][hapmap]
rs3760884	0.82[JPT][hapmap]
rs3826897	0.88[ASN][1000 genomes]

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	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription 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	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38756800-38778600	Weak transcription	Thymus	Thymus
2	chr19:38756800-38779600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:38759600-38783200	Weak transcription	Fetal Brain Male	brain
4	chr19:38765800-38794800	Weak transcription	Small Intestine	intestine
5	chr19:38769200-38778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:38769200-38791200	Weak transcription	Fetal Kidney	kidney
7	chr19:38769400-38779200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr19:38769400-38795200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr19:38769600-38778400	Weak transcription	Brain Substantia Nigra	brain
10	chr19:38769800-38778000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:38769800-38778200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:38769800-38778200	Weak transcription	Brain Hippocampus Middle	brain
13	chr19:38769800-38779000	Weak transcription	Brain Anterior Caudate	brain
14	chr19:38769800-38779000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:38769800-38779000	Weak transcription	HSMM	muscle
16	chr19:38769800-38779200	Weak transcription	Brain Angular Gyrus	brain
17	chr19:38769800-38780400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:38770000-38780600	Weak transcription	Brain Germinal Matrix	brain
19	chr19:38770600-38777000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:38770800-38785800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:38771200-38779000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:38771400-38778200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:38771400-38778200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:38771400-38778600	Weak transcription	Fetal Lung	lung
25	chr19:38771400-38805800	Weak transcription	Right Atrium	heart
26	chr19:38772600-38782800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr19:38772800-38780800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:38772800-38780800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr19:38772800-38784200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:38773000-38779200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr19:38773000-38780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr19:38773000-38785400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr19:38773000-38787800	Strong transcription	Fetal Intestine Small	intestine
34	chr19:38773200-38778400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:38773200-38779400	Weak transcription	Primary T cells from cord blood	blood
36	chr19:38773200-38779400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr19:38773200-38785600	Strong transcription	Fetal Intestine Large	intestine
38	chr19:38773400-38778600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr19:38773600-38777400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:38773600-38778200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:38773600-38778200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr19:38773600-38780800	Weak transcription	Right Ventricle	heart
43	chr19:38773800-38784000	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr19:38774000-38783200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr19:38774000-38785000	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:38774000-38785600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr19:38774200-38778400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr19:38774200-38778400	Weak transcription	Fetal Brain Female	brain
49	chr19:38774200-38778600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:38774200-38779000	Weak transcription	Fetal Thymus	thymus

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