Variant report

Variant	rs4808803
Chromosome Location	chr19:18584781-18584782
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18581042..18584952-chr19:18587091..18589760,3	K562	blood:
2	chr19:18580822..18585022-chr19:18586559..18590486,5	K562	blood:
3	chr19:18582698..18585367-chr19:18619176..18621378,2	MCF-7	breast:
4	chr19:18561231..18563348-chr19:18583316..18585649,2	MCF-7	breast:
5	chr19:18571067..18573112-chr19:18583342..18585104,3	K562	blood:

Variant related genes	Relation type
ENSG00000105656	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10164323	0.85[JPT][hapmap]
rs10402322	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10409346	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10409408	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10410797	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10413922	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10416993	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10418331	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10418554	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10420384	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10423802	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10426768	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1045631	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11086110	0.81[ASW][hapmap];0.83[CEU][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs11668704	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670392	1.00[ASW][hapmap];0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11672385	1.00[ASW][hapmap];0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11879757	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12980726	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12982295	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12983263	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13344313	0.82[CHD][hapmap]
rs1469412	1.00[ASW][hapmap];0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1469413	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1971093	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013069	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2162797	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2303692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28534973	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2891676	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34213500	0.94[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35004712	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35742476	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4006662	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4303657	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4580317	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808135	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808802	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808805	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808806	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808807	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808808	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808811	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808812	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808813	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55715336	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57923655	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6512268	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6512269	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6512270	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6512271	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7246788	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7247540	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7249760	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7251640	0.89[CHB][hapmap]
rs7252130	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7252185	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7255936	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7256530	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7258891	0.94[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];0.93[JPT][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7259135	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7507218	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8100343	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8102717	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104247	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8106068	0.94[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8106332	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8111397	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111582	0.81[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111824	0.94[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8112372	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8112859	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs888668	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs888669	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
2	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
6	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
7	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
8	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4808803	SSBP4	cis	lymphoblastoid	seeQTL
rs4808803	CYP4F11	cis	parietal	SCAN
rs4808803	SNORA68	cis	cerebellum	SCAN
rs4808803	ZNF14	cis	parietal	SCAN
rs4808803	ISYNA1	cis	parietal	SCAN
rs4808803	CHERP	cis	cerebellum	SCAN
rs4808803	ABHD8	cis	parietal	SCAN
rs4808803	SSBP4	Cis_1M	lymphoblastoid	RTeQTL
rs4808803	LOC646044///SSBP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18571800-18589600	Weak transcription	HUVEC	blood vessel
2	chr19:18572200-18589600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr19:18572600-18592400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:18575400-18607200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:18575600-18587000	Weak transcription	Primary B cells from cord blood	blood
6	chr19:18575800-18585000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:18575800-18590800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:18576200-18590800	Weak transcription	Aorta	Aorta
9	chr19:18576400-18586400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:18576400-18589600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:18576600-18586400	Weak transcription	Brain Germinal Matrix	brain
12	chr19:18576800-18586600	Weak transcription	Fetal Lung	lung
13	chr19:18576800-18587600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:18576800-18591000	Weak transcription	Fetal Brain Female	brain
15	chr19:18578400-18589000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:18578400-18589400	Weak transcription	NH-A	brain
17	chr19:18579800-18585000	Strong transcription	Primary T cells from cord blood	blood
18	chr19:18579800-18585000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:18580000-18588800	Weak transcription	HMEC	breast
20	chr19:18581000-18589800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:18581200-18584800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr19:18581200-18586600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:18581400-18584800	Weak transcription	Psoas Muscle	Psoas
24	chr19:18581400-18584800	Weak transcription	Right Atrium	heart
25	chr19:18581400-18586200	Strong transcription	Fetal Intestine Small	intestine
26	chr19:18581400-18595600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr19:18581600-18588000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:18581600-18597000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr19:18581800-18584800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:18581800-18585400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr19:18581800-18588200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:18581800-18588200	Weak transcription	Hela-S3	cervix
33	chr19:18581800-18589400	Weak transcription	NHLF	lung
34	chr19:18581800-18589600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr19:18581800-18590000	Weak transcription	Dnd41	blood
36	chr19:18582000-18586000	Weak transcription	NHEK	skin
37	chr19:18582000-18587600	Weak transcription	K562	blood
38	chr19:18582000-18589200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr19:18582400-18589600	Weak transcription	Thymus	Thymus
40	chr19:18583200-18585600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:18583200-18585600	Genic enhancers	Lung	lung
42	chr19:18583200-18586600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:18583400-18585000	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr19:18583400-18585600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr19:18583400-18589600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:18583400-18592400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:18583600-18584800	Weak transcription	Esophagus	oesophagus
48	chr19:18583600-18584800	Weak transcription	Gastric	stomach
49	chr19:18583600-18584800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr19:18583600-18587600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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