Variant report

Variant	rs4808910
Chromosome Location	chr19:19165156-19165157
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	CTCF	chr19:19164375-19165256	HCT-116	colon:	n/a	chr19:19164776-19164794 chr19:19164777-19164793 chr19:19164779-19164792 chr19:19164779-19164788 chr19:19164487-19164500 chr19:19164778-19164799
2	SMC3	chr19:19164562-19165401	SK-N-SH	brain:	n/a	chr19:19164778-19164792 chr19:19164782-19164792
3	RAD21	chr19:19164510-19165263	HCT-116	colon:	n/a	chr19:19164778-19164792 chr19:19164780-19164793 chr19:19164782-19164792 chr19:19164777-19164796 chr19:19164782-19164794
4	ELF1	chr19:19164679-19165182	GM12878	blood:	n/a	n/a
5	RAD21	chr19:19164436-19165254	SK-N-SH	brain:	n/a	chr19:19164778-19164792 chr19:19164780-19164793 chr19:19164782-19164792 chr19:19164777-19164796 chr19:19164782-19164794
6	POLR2A	chr19:19161781-19166997	K562	blood:	n/a	n/a
7	CTCF	chr19:19165100-19165250	GM12871	blood:	n/a	n/a
8	POLR2A	chr19:19164692-19165392	K562	blood:	n/a	n/a
9	RAD21	chr19:19164483-19165197	HCT-116	colon:	n/a	chr19:19164778-19164792 chr19:19164780-19164793 chr19:19164782-19164792 chr19:19164777-19164796 chr19:19164782-19164794
10	POLR2A	chr19:19160954-19166976	K562	blood:	n/a	n/a
11	CTCF	chr19:19165120-19165270	HMF	breast:	n/a	n/a
12	CTCF	chr19:19164337-19165161	A549	lung:	n/a	chr19:19164776-19164794 chr19:19164777-19164793 chr19:19164779-19164792 chr19:19164779-19164788 chr19:19164487-19164500 chr19:19164778-19164799

No.	Distal block	Cell Line	Cell type
1	chr19:19164507..19166528-chr19:19249184..19251105,2	K562	blood:
2	chr19:19042506..19044271-chr19:19163286..19165495,2	K562	blood:
3	chr19:19161417..19167211-chr19:19171135..19175299,5	MCF-7	breast:

Variant related genes	Relation type
ARMC6	TF binding region
ENSG00000181035	Chromatin interaction
ENSG00000051128	Chromatin interaction
ENSG00000064545	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10164302	0.93[EUR][1000 genomes]
rs10221450	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10221529	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11549380	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28498174	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3787041	0.85[MEX][hapmap]
rs4808171	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs4808178	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs4808180	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4808181	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4808896	0.95[EUR][1000 genomes]
rs4808897	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs4808899	0.95[EUR][1000 genomes]
rs4808909	0.90[EUR][1000 genomes]
rs4808912	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4808914	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4808915	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4808921	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4808922	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs55658345	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55678828	0.95[EUR][1000 genomes]
rs56141206	0.95[EUR][1000 genomes]
rs56144126	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56159042	0.86[EUR][1000 genomes]
rs56227420	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60489867	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60696741	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72993458	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72993462	0.87[EUR][1000 genomes]
rs73004898	0.95[EUR][1000 genomes]
rs73004899	0.95[EUR][1000 genomes]
rs73006907	0.95[EUR][1000 genomes]
rs73006928	0.92[EUR][1000 genomes]
rs73008923	0.95[EUR][1000 genomes]
rs73008928	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73008930	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73008934	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73008939	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73008945	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73008949	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73008958	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73008960	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73010908	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv543927	chr19:19147376-19178024	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19145000-19174000	Weak transcription	Small Intestine	intestine
2	chr19:19145400-19165600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:19145400-19171800	Weak transcription	Right Atrium	heart
4	chr19:19145600-19172200	Weak transcription	Stomach Mucosa	stomach
5	chr19:19145600-19173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:19145600-19173800	Weak transcription	Fetal Kidney	kidney
7	chr19:19151000-19173800	Weak transcription	Fetal Brain Male	brain
8	chr19:19151800-19166000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:19151800-19173800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:19151800-19173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr19:19152600-19173200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr19:19152800-19171400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:19153200-19171000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr19:19153200-19171200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr19:19153200-19171400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:19153200-19172200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:19153200-19173600	Strong transcription	Fetal Stomach	stomach
18	chr19:19153400-19167400	Strong transcription	Fetal Muscle Leg	muscle
19	chr19:19153400-19168400	Strong transcription	Fetal Intestine Small	intestine
20	chr19:19153400-19168600	Strong transcription	Fetal Intestine Large	intestine
21	chr19:19153400-19169800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr19:19153400-19170400	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr19:19153400-19170800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:19153400-19170800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:19153400-19170800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr19:19153400-19171000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:19153400-19171200	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:19155400-19165200	Weak transcription	NHDF-Ad	bronchial
29	chr19:19156600-19172800	Strong transcription	Dnd41	blood
30	chr19:19157400-19166200	Strong transcription	Fetal Lung	lung
31	chr19:19157400-19169400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr19:19157800-19169400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr19:19159600-19170800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr19:19159800-19170400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr19:19159800-19170800	Strong transcription	Primary T cells from cord blood	blood
36	chr19:19159800-19170800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:19159800-19171400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:19160000-19166400	Strong transcription	Primary hematopoietic stem cells	blood
39	chr19:19160000-19169400	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr19:19160000-19169600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:19160200-19169000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr19:19160200-19169400	Strong transcription	Adipose Nuclei	Adipose
43	chr19:19160200-19170600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:19160200-19171000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:19160200-19172400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:19160400-19166600	Strong transcription	K562	blood
47	chr19:19160400-19169400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr19:19160400-19169400	Strong transcription	Left Ventricle	heart
49	chr19:19160400-19169400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr19:19160400-19170800	Strong transcription	Primary monocytes fromperipheralblood	blood

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