Variant report

Variant	rs4808182
Chromosome Location	chr19:19193618-19193619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19187607..19189298-chr19:19193130..19195101,2	K562	blood:
2	chr19:19192326..19194293-chr19:19196548..19198658,2	K562	blood:
3	chr19:19187798..19189522-chr19:19193130..19195323,2	K562	blood:
4	chr19:19192793..19194653-chr19:19196551..19198658,2	K562	blood:
5	chr19:19192171..19193937-chr19:19216840..19218513,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10403272	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10410399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11085249	0.89[EUR][1000 genomes]
rs12978990	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013585	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2269807	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761083	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4808176	1.00[AFR][1000 genomes]
rs4808177	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808895	0.89[EUR][1000 genomes]
rs4808917	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6511019	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7252615	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs757222	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4808182	SFRS14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19175400-19207800	Weak transcription	Aorta	Aorta
2	chr19:19176400-19215200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:19176400-19215800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:19176400-19215800	Weak transcription	NHLF	lung
5	chr19:19176600-19194400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:19176600-19206800	Weak transcription	Fetal Brain Female	brain
7	chr19:19176600-19207200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:19176600-19208200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:19177000-19210000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:19177200-19204800	Weak transcription	Fetal Intestine Large	intestine
11	chr19:19177200-19215400	Weak transcription	Colonic Mucosa	Colon
12	chr19:19178400-19204800	Weak transcription	HepG2	liver
13	chr19:19178600-19198400	Weak transcription	Brain Substantia Nigra	brain
14	chr19:19180200-19216000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:19180400-19194600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr19:19180400-19195800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr19:19180400-19207200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:19180400-19207800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr19:19180400-19208000	Weak transcription	Brain Angular Gyrus	brain
20	chr19:19180400-19208000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr19:19180400-19208200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr19:19180400-19216400	Weak transcription	Colon Smooth Muscle	Colon
23	chr19:19180400-19219800	Weak transcription	HSMMtube	muscle
24	chr19:19180600-19208200	Weak transcription	Fetal Lung	lung
25	chr19:19180600-19213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:19185400-19194800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr19:19185400-19208400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:19185400-19221200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr19:19185600-19194400	Weak transcription	Brain Germinal Matrix	brain
32	chr19:19185600-19198600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:19185600-19198600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:19185600-19207200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr19:19185600-19211400	Weak transcription	Pancreas	Pancrea
36	chr19:19186400-19206800	Weak transcription	Fetal Thymus	thymus
37	chr19:19186800-19207400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:19186800-19215200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr19:19187000-19205400	Weak transcription	Ovary	ovary
40	chr19:19187400-19194200	Weak transcription	Dnd41	blood
41	chr19:19187400-19207800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:19187800-19196200	Weak transcription	GM12878-XiMat	blood
43	chr19:19188400-19194000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:19188400-19204800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:19188400-19209800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr19:19189400-19207200	Weak transcription	Brain Anterior Caudate	brain
47	chr19:19189600-19193800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr19:19189800-19202800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr19:19190600-19195400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr19:19191000-19194400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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