Variant report

Variant	rs150099950
Chromosome Location	chr19:43025433-43025434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK1	chr19:43025422-43025460	GM12878	blood:	n/a	n/a
2	RUNX3	chr19:43025422-43025791	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:43025388-43025835	HL-60	blood:	n/a	n/a
4	POLR2A	chr19:43025322-43025867	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CXCL17-3	chr19:43025420-43025500	NONHSAT066562

Variant related genes	Relation type
CEACAM1	TF binding region

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

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	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv963054	chr19:43025184-43027646	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43003200-43030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr19:43003400-43028400	Weak transcription	Esophagus	oesophagus
3	chr19:43003400-43029400	Weak transcription	Small Intestine	intestine
4	chr19:43006200-43029800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr19:43012200-43028200	Strong transcription	Liver	Liver
6	chr19:43013800-43032000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr19:43015600-43030800	Weak transcription	Left Ventricle	heart
8	chr19:43016000-43032400	Weak transcription	Brain Anterior Caudate	brain
9	chr19:43016600-43029400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr19:43016600-43031800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:43017400-43031400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:43017800-43025600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr19:43018200-43030400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr19:43018600-43027200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr19:43019000-43029200	Weak transcription	Stomach Mucosa	stomach
16	chr19:43019400-43027000	Weak transcription	Placenta	Placenta
17	chr19:43020400-43030400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:43021600-43026200	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr19:43021800-43027400	Strong transcription	Fetal Intestine Large	intestine
20	chr19:43022000-43026600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:43022000-43028200	Strong transcription	Duodenum Mucosa	Duodenum
22	chr19:43022000-43028400	Genic enhancers	HepG2	liver
23	chr19:43022200-43028600	Strong transcription	Fetal Intestine Small	intestine
24	chr19:43023000-43026200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr19:43023000-43026200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr19:43023000-43026400	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr19:43023000-43027800	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr19:43023200-43026200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:43023200-43026400	Strong transcription	Primary T cells from cord blood	blood
30	chr19:43023200-43027600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:43023200-43032400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr19:43023600-43025600	Weak transcription	GM12878-XiMat	blood
33	chr19:43023600-43027200	Strong transcription	Spleen	Spleen
34	chr19:43023600-43029600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr19:43023600-43031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:43023600-43032200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:43023600-43033200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr19:43024200-43026200	Strong transcription	Primary B cells from cord blood	blood
39	chr19:43024400-43026200	Strong transcription	Fetal Stomach	stomach
40	chr19:43024400-43027000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr19:43024800-43025600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:43024800-43025600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:43024800-43025800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:43024800-43026200	Strong transcription	Colonic Mucosa	Colon
45	chr19:43024800-43027400	Strong transcription	Adipose Nuclei	Adipose
46	chr19:43025000-43026200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:43025000-43030400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:43025200-43025800	Enhancers	Primary hematopoietic stem cells	blood
49	chr19:43025200-43026000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr19:43025200-43026000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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