Variant report

Variant	rs4802123
Chromosome Location	chr19:42052927-42052928
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	chr19:42052605-42053083	GM12892	blood:	n/a	n/a
2	RUNX3	chr19:42052605-42053070	GM12878	blood:	n/a	n/a
3	RUNX3	chr19:42052594-42053183	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:42052577-42052965	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:42052623-42053024	GM12891	blood:	n/a	n/a
6	SPI1	chr19:42052569-42053222	HL-60	blood:	n/a	chr19:42052866-42052873 chr19:42052932-42052945 chr19:42052863-42052876 chr19:42052928-42052935
7	POLR2A	chr19:42052639-42053115	GM12878	blood:	n/a	n/a
8	SPI1	chr19:42052619-42053071	GM12891	blood:	n/a	chr19:42052866-42052873 chr19:42052932-42052945 chr19:42052863-42052876 chr19:42052928-42052935
9	TBP	chr19:42052648-42052971	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:42052394-42053061	GM12892	blood:	n/a	n/a
11	SPI1	chr19:42052746-42052989	K562	blood:	n/a	chr19:42052866-42052873 chr19:42052932-42052945 chr19:42052863-42052876 chr19:42052928-42052935
12	POLR2A	chr19:42051762-42053200	GM12892	blood:	n/a	n/a
13	POLR2A	chr19:42052581-42053116	GM18505	blood:	n/a	n/a
14	WRNIP1	chr19:42052630-42053042	GM12878	blood:	n/a	n/a
15	SPI1	chr19:42052610-42053071	HL-60	blood:	n/a	chr19:42052866-42052873 chr19:42052932-42052945 chr19:42052863-42052876 chr19:42052928-42052935
16	POLR2A	chr19:42052667-42053074	GM12891	blood:	n/a	n/a
17	POLR2A	chr19:42052578-42052976	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:42052526-42053231	GM12892	blood:	n/a	n/a
19	POLR2A	chr19:42052552-42053080	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:42052575-42053090	GM19193	blood:	n/a	n/a
21	POLR2A	chr19:42051883-42053162	GM12891	blood:	n/a	n/a
22	MTA3	chr19:42051886-42053257	GM12878	blood:	n/a	n/a
23	STAT5A	chr19:42052187-42053098	GM12878	blood:	n/a	n/a
24	SPI1	chr19:42052763-42052974	GM12878	blood:	n/a	chr19:42052866-42052873 chr19:42052932-42052945 chr19:42052863-42052876 chr19:42052928-42052935
25	TAF1	chr19:42052680-42052942	GM12892	blood:	n/a	n/a
26	POLR2A	chr19:42051913-42053197	HL-60	blood:	n/a	n/a
27	TAF1	chr19:42052649-42053027	GM12878	blood:	n/a	n/a
28	SPI1	chr19:42052672-42053006	GM12878	blood:	n/a	chr19:42052866-42052873 chr19:42052932-42052945 chr19:42052863-42052876 chr19:42052928-42052935
29	POLR2A	chr19:42052601-42053077	GM15510	blood:	n/a	n/a
30	SPI1	chr19:42052597-42053084	GM12891	blood:	n/a	chr19:42052866-42052873 chr19:42052932-42052945 chr19:42052863-42052876 chr19:42052928-42052935

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42036448..42038567-chr19:42052200..42053873,2	MCF-7	breast:

Variant related genes	Relation type
CEACAM21	TF binding region
ENSG00000268027	TF binding region
ENSG00000268355	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1015758	1.00[CHB][hapmap]
rs10414565	0.86[ASN][1000 genomes]
rs1122493	1.00[CHB][hapmap]
rs12983789	1.00[CHB][hapmap]
rs1529717	1.00[CHB][hapmap]
rs1860328	1.00[CHB][hapmap]
rs2052080	1.00[CHB][hapmap]
rs3859459	1.00[CHB][hapmap]
rs3909377	1.00[CHB][hapmap]
rs4090570	1.00[CHB][hapmap]
rs4803464	1.00[CHB][hapmap]
rs6508988	1.00[CHB][hapmap]
rs887499	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911770	chr19:41962486-42066279	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv911771	chr19:41962486-42085873	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1055515	chr19:41968797-42057334	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv911772	chr19:41985624-42066279	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv911773	chr19:42001210-42085873	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv978751	chr19:42036596-42073874	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers 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	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42050600-42055000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr19:42050800-42053400	Enhancers	Spleen	Spleen
3	chr19:42051400-42055800	Enhancers	Primary hematopoietic stem cells	blood
4	chr19:42051800-42053200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr19:42051800-42053200	Enhancers	Placenta	Placenta
6	chr19:42051800-42053200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr19:42051800-42053400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:42051800-42053600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr19:42051800-42053600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr19:42051800-42054200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:42051800-42055400	Enhancers	Fetal Thymus	thymus
12	chr19:42052000-42053000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:42052000-42053000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:42052000-42053000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:42052000-42053000	Flanking Active TSS	GM12878-XiMat	blood
16	chr19:42052000-42053200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr19:42052000-42053200	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr19:42052000-42053200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr19:42052000-42053200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr19:42052000-42053200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr19:42052000-42053200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:42052000-42053200	Enhancers	Lung	lung
23	chr19:42052000-42053400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr19:42052000-42053400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:42052000-42053400	Enhancers	HUVEC	blood vessel
26	chr19:42052000-42053600	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr19:42052000-42053600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr19:42052200-42053000	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr19:42052200-42053000	Enhancers	Fetal Intestine Small	intestine
30	chr19:42052200-42053000	Flanking Active TSS	Thymus	Thymus
31	chr19:42052200-42053200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr19:42052200-42053600	Enhancers	Fetal Lung	lung
33	chr19:42052400-42053000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:42052400-42053200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:42052400-42053200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr19:42052600-42053000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:42052600-42053000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr19:42052600-42053200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:42052600-42053200	Bivalent/Poised TSS	Colonic Mucosa	Colon
40	chr19:42052600-42053200	Enhancers	Esophagus	oesophagus
41	chr19:42052600-42053800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr19:42052600-42054600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr19:42052800-42053000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:42052800-42053000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr19:42052800-42053200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
46	chr19:42052800-42053400	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr19:42052800-42053600	Enhancers	Fetal Muscle Leg	muscle
48	chr19:42052800-42055200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:42052800-42055200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr19:42052800-42055200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links