Variant report

Variant	rs4808134
Chromosome Location	chr19:18608579-18608580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18586454..18593275-chr19:18604315..18608580,6	K562	blood:
2	chr19:18606497..18609266-chr19:18627874..18630589,2	MCF-7	breast:
3	chr19:18606523..18611350-chr19:18611496..18616522,8	K562	blood:
4	chr19:18596217..18598374-chr19:18607142..18610008,2	K562	blood:
5	chr19:18607639..18609981-chr19:18628770..18631366,2	K562	blood:

Variant related genes	Relation type
ENSG00000105656	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10164319	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10403249	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405479	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10405636	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10408290	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10409003	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10409483	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10409505	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10411009	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10413237	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10419404	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10425982	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10427083	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1043327	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10442	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11673604	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12162221	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12162223	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12981981	0.92[ASN][1000 genomes]
rs1560118	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1560119	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs172032	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1806980	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2007981	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2288428	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2303695	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2303696	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2303697	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2385088	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2385089	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs271621	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs271622	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs271623	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs271624	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs271626	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs271628	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs271629	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28572537	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34010330	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34053595	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34171762	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34256197	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34746918	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3810429	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4595905	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4808133	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808136	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808801	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808804	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62121135	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7249020	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7251653	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252707	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252848	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253990	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254249	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7256534	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7257932	0.86[ASN][1000 genomes]
rs7258465	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs748609	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs76194	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs76195	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8100767	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8103622	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8103660	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8105994	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8106096	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8107347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107367	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8107743	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8109573	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111708	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs875396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
7	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
8	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4808134	SSBP4	cis	Skin Sun Exposed Lower leg	GTEx
rs4808134	SSBP4	cis	Esophagus Mucosa	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18594000-18621800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr19:18598000-18609800	Weak transcription	Fetal Intestine Large	intestine
3	chr19:18599400-18611200	Weak transcription	Brain Germinal Matrix	brain
4	chr19:18599800-18611400	Weak transcription	Aorta	Aorta
5	chr19:18600200-18610400	Weak transcription	Brain Substantia Nigra	brain
6	chr19:18600200-18611400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr19:18600400-18609200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:18600400-18630600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:18600600-18611400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr19:18600600-18619800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:18602200-18621400	Enhancers	Right Ventricle	heart
12	chr19:18602400-18608600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr19:18602600-18621400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr19:18602800-18612600	Enhancers	Placenta	Placenta
15	chr19:18603600-18622600	Enhancers	Psoas Muscle	Psoas
16	chr19:18604000-18608600	Enhancers	Liver	Liver
17	chr19:18604000-18608800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr19:18604200-18610600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:18604200-18619000	Enhancers	Fetal Thymus	thymus
20	chr19:18604800-18618400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr19:18605200-18608600	Enhancers	Primary T cells from cord blood	blood
22	chr19:18605200-18609000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:18605400-18608600	Enhancers	GM12878-XiMat	blood
24	chr19:18605400-18621800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:18605600-18611200	Weak transcription	Fetal Lung	lung
26	chr19:18606000-18611400	Weak transcription	Fetal Brain Female	brain
27	chr19:18606000-18611800	Enhancers	Spleen	Spleen
28	chr19:18606600-18609600	Enhancers	Brain Anterior Caudate	brain
29	chr19:18606800-18611200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:18606800-18614600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:18606800-18625800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:18607000-18611200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:18607000-18615000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:18607200-18609800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:18607200-18609800	Weak transcription	Brain Angular Gyrus	brain
36	chr19:18607200-18617800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr19:18607400-18609200	Weak transcription	Ovary	ovary
38	chr19:18607400-18611200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr19:18607600-18608600	Enhancers	Duodenum Mucosa	Duodenum
40	chr19:18607600-18608600	Enhancers	Fetal Intestine Small	intestine
41	chr19:18607600-18609200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:18607600-18609200	Weak transcription	Brain Hippocampus Middle	brain
43	chr19:18607600-18609200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr19:18607600-18609200	Weak transcription	Thymus	Thymus
45	chr19:18607600-18609800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr19:18607600-18609800	Weak transcription	Fetal Muscle Leg	muscle
47	chr19:18607600-18609800	Weak transcription	HSMM	muscle
48	chr19:18607600-18610000	Weak transcription	Fetal Stomach	stomach
49	chr19:18607600-18611000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr19:18607600-18611200	Weak transcription	Muscle Satellite Cultured Cells	--

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