Variant report

Variant	rs4808895
Chromosome Location	chr19:19100676-19100677
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr19:19100579-19101264	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:19100000-19101400	U87	brain:	n/a	n/a
3	POLR2A	chr19:19100231-19101401	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr19:19100448-19101703	HL-60	blood:	n/a	n/a
5	POLR2A	chr19:19100132-19101475	MCF-7	breast:	n/a	n/a
6	POLR2A	chr19:19100510-19101751	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr19:19100459-19101657	GM12892	blood:	n/a	n/a
8	POLR2A	chr19:19100532-19100726	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr19:19100639-19101685	GM12892	blood:	n/a	n/a
10	POLR2A	chr19:19100090-19101643	A549	lung:	n/a	n/a
11	POLR2A	chr19:19100530-19101696	K562	blood:	n/a	n/a
12	POLR2A	chr19:19100496-19101706	K562	blood:	n/a	n/a
13	POLR2A	chr19:19100011-19101562	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr19:19100598-19101637	K562	blood:	n/a	n/a
15	POLR2A	chr19:19099946-19100795	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr19:19100525-19101612	GM12891	blood:	n/a	n/a
17	NFATC1	chr19:19100635-19101062	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:19100068-19101488	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr19:19100540-19101737	GM12891	blood:	n/a	n/a
20	POLR2A	chr19:19100191-19101461	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:19100623-19101523	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr19:19100000-19101464	U87	brain:	n/a	n/a
23	MTA3	chr19:19099927-19101533	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:19100647-19101174	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr19:19099930-19101770	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr19:19100088-19102888	K562	blood:	n/a	n/a
27	PML	chr19:19100257-19101453	GM12878	blood:	n/a	chr19:19101182-19101190
28	POLR2A	chr19:19100114-19101675	GM12891	blood:	n/a	n/a
29	POLR2A	chr19:19100334-19100741	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr19:19100283-19102204	HL-60	blood:	n/a	n/a
31	POLR2A	chr19:19100059-19101646	PFSK-1	brain:	n/a	n/a
32	STAT5A	chr19:19100398-19101320	GM12878	blood:	n/a	chr19:19100767-19100775 chr19:19101068-19101080
33	POLR2A	chr19:19100527-19100746	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr19:19100049-19101659	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:19100576-19101642	HepG2	liver:	n/a	n/a
36	POLR2A	chr19:19100658-19101199	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr19:19100236-19101610	HepG2	liver:	n/a	n/a
38	POLR2A	chr19:19100564-19101653	GM12878	blood:	n/a	n/a
39	POLR2A	chr19:19100142-19101703	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr19:19100169-19101732	GM12892	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19086874..19091371-chr19:19096444..19100736,4	K562	blood:
2	chr19:19099305..19102487-chr19:19102568..19107094,5	MCF-7	breast:
3	chr19:18896840..18897549-chr19:19100206..19100956,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269131	TF binding region
ENSG00000064607	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1007483	0.88[CEU][hapmap]
rs10403272	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10405635	0.81[CEU][hapmap]
rs10410399	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs10410451	0.88[CEU][hapmap]
rs10417974	0.85[CEU][hapmap]
rs11085249	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11666627	0.88[CEU][hapmap]
rs11671696	1.00[ASN][1000 genomes]
rs12985799	0.86[CEU][hapmap]
rs2012318	0.86[CEU][hapmap]
rs2013813	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2158320	0.87[AFR][1000 genomes]
rs2269806	0.86[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2269807	0.89[EUR][1000 genomes]
rs2269869	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2285851	0.81[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs3787041	0.85[JPT][hapmap]
rs4808172	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4808176	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808177	0.89[EUR][1000 genomes]
rs4808182	0.89[EUR][1000 genomes]
rs4808900	1.00[ASN][1000 genomes]
rs4808902	0.95[AFR][1000 genomes]
rs4808911	0.87[AFR][1000 genomes]
rs4808916	0.92[CEU][hapmap];0.85[JPT][hapmap]
rs4808917	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6511018	0.86[CEU][hapmap]
rs7248399	0.86[CEU][hapmap]
rs7252615	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7256648	0.88[CEU][hapmap]
rs7259609	0.86[CEU][hapmap]
rs756792	0.84[CEU][hapmap]
rs757220	0.86[CEU][hapmap]
rs757222	0.88[EUR][1000 genomes]
rs9304959	0.92[AFR][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	nsv2435	chr19:19077432-19122579	Strong transcription Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4808895	SFRS14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19084200-19107800	Weak transcription	Right Atrium	heart
2	chr19:19096200-19101600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr19:19096200-19104000	Weak transcription	Primary B cells from cord blood	blood
4	chr19:19096400-19100800	Weak transcription	Fetal Brain Female	brain
5	chr19:19096400-19101000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:19096400-19102200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr19:19096400-19103400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:19096400-19103600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr19:19096600-19101400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:19096600-19103400	Weak transcription	NH-A	brain
11	chr19:19096800-19101200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:19096800-19102400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:19096800-19104000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:19097000-19101800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr19:19097600-19101000	Weak transcription	Spleen	Spleen
16	chr19:19097600-19101200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr19:19097600-19101800	Weak transcription	NHLF	lung
18	chr19:19097600-19102000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:19097600-19102400	Weak transcription	Left Ventricle	heart
20	chr19:19097600-19103400	Weak transcription	HUVEC	blood vessel
21	chr19:19097600-19103600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:19097800-19101000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr19:19097800-19101200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:19097800-19101200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:19098000-19100800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:19098000-19100800	Weak transcription	Fetal Lung	lung
27	chr19:19098000-19101000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:19098000-19101000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:19098000-19101000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:19098000-19101000	Weak transcription	Brain Anterior Caudate	brain
31	chr19:19098000-19101000	Weak transcription	Brain Hippocampus Middle	brain
32	chr19:19098000-19101000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:19098000-19101000	Weak transcription	Lung	lung
34	chr19:19098000-19101200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr19:19098000-19101200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr19:19098000-19101200	Weak transcription	Brain Substantia Nigra	brain
37	chr19:19098000-19101400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr19:19098000-19101400	Weak transcription	Liver	Liver
39	chr19:19098000-19101400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr19:19098000-19101400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr19:19098000-19101400	Weak transcription	NHDF-Ad	bronchial
42	chr19:19098000-19101600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:19098000-19101800	Weak transcription	Fetal Brain Male	brain
44	chr19:19098000-19101800	Weak transcription	Pancreas	Pancrea
45	chr19:19098000-19101800	Weak transcription	HMEC	breast
46	chr19:19098000-19102000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr19:19098000-19102000	Weak transcription	Brain Angular Gyrus	brain
48	chr19:19098000-19102000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr19:19098000-19102000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr19:19098000-19102000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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