Variant report

Variant	rs8103569
Chromosome Location	chr19:36547619-36547620
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	POLR2A	chr19:36547510-36547728	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36484913..36488286-chr19:36544915..36548972,3	MCF-7	breast:
2	chr19:36484438..36486588-chr19:36547484..36549798,2	K562	blood:
3	chr19:36543835..36550918-chr19:36603651..36608049,11	MCF-7	breast:

Variant related genes	Relation type
THAP8	TF binding region
ENSG00000105254	Chromatin interaction
ENSG00000105261	Chromatin interaction
ENSG00000205138	Chromatin interaction
ENSG00000105258	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs1003470	0.87[YRI][hapmap]
rs10407011	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10414877	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10420353	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10421966	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10423651	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10425692	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10426582	0.85[CHB][hapmap]
rs12462432	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12462632	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12462674	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12972490	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12976505	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12976812	0.90[CEU][hapmap];0.86[CHB][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12977802	0.84[JPT][hapmap]
rs12977814	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12978482	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12981654	0.92[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.89[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1548505	0.87[YRI][hapmap]
rs17639286	0.92[CEU][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2023865	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2072606	0.89[JPT][hapmap]
rs2079151	0.83[ASN][1000 genomes]
rs2239510	0.96[CEU][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2301736	0.87[YRI][hapmap]
rs2311004	0.83[YRI][hapmap]
rs35125548	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35875194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3826995	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4461192	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4805154	0.85[CHB][hapmap]
rs4806280	0.84[JPT][hapmap]
rs56034793	0.97[ASN][1000 genomes]
rs62109743	0.97[ASN][1000 genomes]
rs71337524	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs721542	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7245762	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs7246292	0.87[YRI][hapmap]
rs7250448	0.85[CHB][hapmap];0.85[CHD][hapmap]
rs7257383	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs7259592	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7260609	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][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	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs8103569	SHKBP1	cis	cerebellum	SCAN
rs8103569	CCDC97	cis	parietal	SCAN
rs8103569	CYP2B7P1	cis	parietal	SCAN
rs8103569	ZNF229	cis	parietal	SCAN
rs8103569	ZNF345	cis	parietal	SCAN
rs8103569	GRIK5	cis	cerebellum	SCAN
rs8103569	ATXN7L1	trans	parietal	SCAN
rs8103569	PSG9	cis	cerebellum	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36546200-36547800	Flanking Active TSS	Brain Germinal Matrix	brain
2	chr19:36546400-36547800	Enhancers	Stomach Mucosa	stomach
3	chr19:36546400-36549600	Weak transcription	Gastric	stomach
4	chr19:36546400-36577600	Weak transcription	Esophagus	oesophagus
5	chr19:36546400-36584000	Weak transcription	Right Atrium	heart
6	chr19:36546600-36548000	Enhancers	Fetal Muscle Trunk	muscle
7	chr19:36546600-36549200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr19:36546600-36549400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:36546600-36549400	Weak transcription	Liver	Liver
10	chr19:36546600-36549400	Weak transcription	Psoas Muscle	Psoas
11	chr19:36546600-36549400	Weak transcription	HSMMtube	muscle
12	chr19:36546600-36551000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:36546600-36551200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr19:36546600-36551200	Weak transcription	Brain Substantia Nigra	brain
15	chr19:36546600-36551600	Weak transcription	Brain Angular Gyrus	brain
16	chr19:36546600-36551600	Weak transcription	Brain Anterior Caudate	brain
17	chr19:36546600-36551600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:36546600-36556600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:36546600-36556800	Weak transcription	Spleen	Spleen
20	chr19:36546600-36557800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:36546600-36572400	Weak transcription	Lung	lung
22	chr19:36546600-36602200	Weak transcription	Colonic Mucosa	Colon
23	chr19:36546600-36604800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:36546800-36547800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:36546800-36547800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr19:36546800-36548000	Enhancers	Fetal Stomach	stomach
27	chr19:36546800-36549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr19:36546800-36549400	Weak transcription	Fetal Intestine Large	intestine
29	chr19:36546800-36549400	Weak transcription	Fetal Intestine Small	intestine
30	chr19:36546800-36550000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:36546800-36551600	Weak transcription	Brain Hippocampus Middle	brain
32	chr19:36546800-36551800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr19:36546800-36551800	Weak transcription	HSMM	muscle
34	chr19:36546800-36557800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:36546800-36572000	Weak transcription	Primary T cells from cord blood	blood
36	chr19:36546800-36572800	Weak transcription	Primary B cells from cord blood	blood
37	chr19:36546800-36572800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr19:36546800-36580200	Weak transcription	Fetal Kidney	kidney
39	chr19:36546800-36588000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr19:36546800-36592200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr19:36546800-36601400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr19:36547000-36548000	Enhancers	Fetal Muscle Leg	muscle
43	chr19:36547000-36548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr19:36547000-36549400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:36547000-36561200	Weak transcription	NH-A	brain
46	chr19:36547200-36547800	Flanking Active TSS	Hela-S3	cervix
47	chr19:36547200-36547800	Flanking Active TSS	K562	blood
48	chr19:36547200-36548000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:36547200-36548000	Enhancers	Thymus	Thymus
50	chr19:36547200-36548400	Transcr. at gene 5' and 3'	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links