Variant report

Variant	rs73008923
Chromosome Location	chr19:19142507-19142508
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19142191-19144083	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:19141992..19145825-chr19:19171077..19177701,15	K562	blood:
2	chr19:19029521..19031208-chr19:19142280..19143902,2	K562	blood:
3	chr19:19141992..19145925-chr19:19172787..19177854,10	K562	blood:
4	chr19:19028019..19031021-chr19:19142402..19146031,5	K562	blood:
5	chr19:19142422..19145596-chr19:19300959..19304249,3	K562	blood:

No data

Variant related genes	Relation type
ARMC6	TF binding region
SUGP2	TF binding region
ENSG00000254901	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000181035	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000105669	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10164302	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10221450	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10221529	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11549380	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28498174	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808171	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808180	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4808181	0.87[EUR][1000 genomes]
rs4808896	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808897	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808899	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808909	0.95[EUR][1000 genomes]
rs4808910	0.95[EUR][1000 genomes]
rs4808912	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4808914	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4808915	0.97[EUR][1000 genomes]
rs4808921	0.87[EUR][1000 genomes]
rs4808922	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs55658345	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55678828	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56141206	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56144126	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs56159042	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56227420	0.87[EUR][1000 genomes]
rs60489867	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60696741	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72993458	0.87[EUR][1000 genomes]
rs72993462	0.85[EUR][1000 genomes]
rs73004898	1.00[EUR][1000 genomes]
rs73004899	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006907	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006928	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008928	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008930	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008934	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73008939	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008945	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008949	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008958	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008960	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73010908	0.87[EUR][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	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19106800-19143000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:19107200-19142600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:19107600-19142600	Strong transcription	Fetal Stomach	stomach
4	chr19:19108000-19142800	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr19:19108200-19142600	Weak transcription	Right Atrium	heart
6	chr19:19108600-19142800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:19126400-19143400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr19:19126800-19142600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:19128000-19142800	Strong transcription	Fetal Intestine Small	intestine
10	chr19:19128000-19142800	Weak transcription	Stomach Mucosa	stomach
11	chr19:19131200-19142800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:19133000-19142600	Strong transcription	Lung	lung
13	chr19:19135600-19142800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:19136200-19142800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:19136400-19143200	Weak transcription	Fetal Kidney	kidney
16	chr19:19139200-19142800	Weak transcription	Psoas Muscle	Psoas
17	chr19:19139400-19142600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:19139400-19142800	Weak transcription	Hela-S3	cervix
19	chr19:19139600-19142600	Weak transcription	Colon Smooth Muscle	Colon
20	chr19:19139600-19142800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr19:19139600-19143200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:19139600-19143200	Weak transcription	Gastric	stomach
23	chr19:19139600-19143200	Weak transcription	Ovary	ovary
24	chr19:19139600-19143200	Weak transcription	Small Intestine	intestine
25	chr19:19139600-19143400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr19:19139800-19142800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:19139800-19142800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:19139800-19143400	Weak transcription	Aorta	Aorta
29	chr19:19140000-19143000	Weak transcription	Pancreas	Pancrea
30	chr19:19140000-19143400	Weak transcription	Esophagus	oesophagus
31	chr19:19140600-19142600	Strong transcription	K562	blood
32	chr19:19140800-19142600	Weak transcription	Colonic Mucosa	Colon
33	chr19:19140800-19142800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr19:19141200-19142800	Genic enhancers	Dnd41	blood
35	chr19:19141400-19142600	Weak transcription	Left Ventricle	heart
36	chr19:19141400-19142800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:19141600-19142600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr19:19141600-19142600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr19:19141600-19142600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr19:19141600-19142600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:19141600-19142800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:19141800-19142600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr19:19141800-19142600	Weak transcription	Primary B cells from cord blood	blood
44	chr19:19141800-19142600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:19141800-19142600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:19141800-19142600	Weak transcription	Adipose Nuclei	Adipose
47	chr19:19141800-19142600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr19:19141800-19142800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr19:19141800-19142800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:19141800-19142800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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