Variant report

Variant	rs8105476
Chromosome Location	chr19:43026680-43026681
allele	C/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	POLR2A	chr19:43026673-43026681	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:43023426..43026592-chr19:43026629..43028829,3	K562	blood:
2	chr19:43026349..43028606-chr19:43031972..43033644,2	K562	blood:

Variant related genes	Relation type
CEACAM1	TF binding region
ENSG00000079385	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10518265	1.00[EUR][1000 genomes]
rs16975748	1.00[EUR][1000 genomes]
rs16975813	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975816	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975848	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975958	1.00[EUR][1000 genomes]
rs1903724	1.00[EUR][1000 genomes]
rs34044249	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34097578	1.00[EUR][1000 genomes]
rs34147019	1.00[EUR][1000 genomes]
rs34366776	1.00[EUR][1000 genomes]
rs34381435	1.00[EUR][1000 genomes]
rs34637823	1.00[EUR][1000 genomes]
rs34734442	1.00[EUR][1000 genomes]
rs34760209	1.00[EUR][1000 genomes]
rs34923099	1.00[EUR][1000 genomes]
rs35002034	1.00[EUR][1000 genomes]
rs35038065	1.00[EUR][1000 genomes]
rs35135831	1.00[EUR][1000 genomes]
rs35213872	1.00[EUR][1000 genomes]
rs35266309	1.00[EUR][1000 genomes]
rs35312827	1.00[EUR][1000 genomes]
rs35349390	1.00[EUR][1000 genomes]
rs35544765	1.00[EUR][1000 genomes]
rs35855384	1.00[EUR][1000 genomes]
rs35917849	1.00[EUR][1000 genomes]
rs35969273	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3745238	1.00[EUR][1000 genomes]
rs4635443	1.00[EUR][1000 genomes]
rs55697425	1.00[EUR][1000 genomes]
rs56271304	1.00[EUR][1000 genomes]
rs56312460	1.00[EUR][1000 genomes]
rs57516100	1.00[EUR][1000 genomes]
rs58405647	1.00[EUR][1000 genomes]
rs58845793	1.00[EUR][1000 genomes]
rs59983776	1.00[EUR][1000 genomes]
rs60389892	1.00[EUR][1000 genomes]
rs60993923	1.00[EUR][1000 genomes]
rs61661961	1.00[EUR][1000 genomes]
rs7253354	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932713	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73932727	1.00[EUR][1000 genomes]
rs73932730	1.00[EUR][1000 genomes]
rs73932732	1.00[EUR][1000 genomes]
rs73932734	1.00[EUR][1000 genomes]
rs73932736	1.00[EUR][1000 genomes]
rs73932737	1.00[EUR][1000 genomes]
rs73932738	1.00[EUR][1000 genomes]
rs73932739	1.00[EUR][1000 genomes]
rs73932741	1.00[EUR][1000 genomes]
rs73932742	1.00[EUR][1000 genomes]
rs73932744	1.00[EUR][1000 genomes]
rs73932746	1.00[EUR][1000 genomes]
rs73932747	1.00[EUR][1000 genomes]
rs73932748	1.00[EUR][1000 genomes]
rs73932750	1.00[EUR][1000 genomes]
rs73932751	1.00[EUR][1000 genomes]
rs73932752	1.00[EUR][1000 genomes]
rs73932754	1.00[EUR][1000 genomes]
rs73932761	1.00[EUR][1000 genomes]
rs73932762	1.00[EUR][1000 genomes]
rs73936020	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936024	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936031	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73936032	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109269	1.00[EUR][1000 genomes]
rs8110316	1.00[EUR][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	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:55 , 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	chr19:43018200-43030400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr19:43018600-43027200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr19:43019000-43029200	Weak transcription	Stomach Mucosa	stomach
15	chr19:43019400-43027000	Weak transcription	Placenta	Placenta
16	chr19:43020400-43030400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:43021800-43027400	Strong transcription	Fetal Intestine Large	intestine
18	chr19:43022000-43028200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr19:43022000-43028400	Genic enhancers	HepG2	liver
20	chr19:43022200-43028600	Strong transcription	Fetal Intestine Small	intestine
21	chr19:43023000-43027800	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr19:43023200-43027600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:43023200-43032400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr19:43023600-43027200	Strong transcription	Spleen	Spleen
25	chr19:43023600-43029600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr19:43023600-43031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:43023600-43032200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:43023600-43033200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:43024400-43027000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr19:43024800-43027400	Strong transcription	Adipose Nuclei	Adipose
31	chr19:43025000-43030400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:43025200-43027600	Strong transcription	Lung	lung
33	chr19:43025400-43028200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr19:43025600-43032000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:43025600-43032400	Weak transcription	Right Ventricle	heart
36	chr19:43025800-43027200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr19:43026000-43027600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr19:43026000-43027600	Weak transcription	GM12878-XiMat	blood
39	chr19:43026000-43028000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr19:43026000-43028000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:43026000-43029000	Weak transcription	Gastric	stomach
42	chr19:43026000-43030400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr19:43026200-43027000	Weak transcription	Colonic Mucosa	Colon
44	chr19:43026200-43027200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
45	chr19:43026200-43027600	Weak transcription	Primary B cells from cord blood	blood
46	chr19:43026200-43027600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:43026200-43028200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr19:43026200-43028400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr19:43026200-43028400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr19:43026200-43028600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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