Variant report

Variant	rs8100018
Chromosome Location	chr19:40752023-40752024
allele	C/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	ZNF384	chr19:40751944-40752023	K562	blood:	n/a	n/a
2	POLR2A	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40742212..40745152-chr19:40750527..40752389,2	MCF-7	breast:
2	chr19:40746123..40749034-chr19:40749509..40752053,3	K562	blood:

Variant related genes	Relation type
AKT2	TF binding region
ENSG00000105221	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10402740	0.81[JPT][hapmap]
rs1129156	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11668242	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11880261	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2304184	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2304189	0.94[CHB][hapmap];0.85[ASN][1000 genomes]
rs339526	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs3730050	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs3730051	0.86[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs4239504	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4239506	0.81[ASN][1000 genomes]
rs4257318	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs4277441	0.86[ASN][1000 genomes]
rs4337402	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4490099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4558508	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs4802070	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs4802071	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs4802073	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4802074	0.95[JPT][hapmap]
rs4803320	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[ASN][1000 genomes]
rs6508936	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7249146	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7250897	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs7257972	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7260517	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs748236	0.86[ASN][1000 genomes]
rs8102171	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8104727	0.86[ASN][1000 genomes]
rs8110888	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs969531	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1062755	chr19:40737463-40758235	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1059094	chr19:40745377-40758235	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8100018	C19orf47	cis	multi-tissue	Pritchard
rs8100018	FLJ36888	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40732800-40759000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:40735600-40757600	Weak transcription	Stomach Mucosa	stomach
3	chr19:40738000-40763800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr19:40738200-40756200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr19:40738800-40758000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:40739200-40758400	Strong transcription	Fetal Intestine Small	intestine
7	chr19:40741600-40761000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:40743200-40760800	Weak transcription	HMEC	breast
9	chr19:40745800-40760800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:40746400-40760800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:40746600-40758000	Weak transcription	K562	blood
12	chr19:40747200-40759400	Weak transcription	Hela-S3	cervix
13	chr19:40747200-40760800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:40747400-40755600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:40747400-40755600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr19:40747400-40757600	Weak transcription	HSMM	muscle
17	chr19:40747400-40759200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr19:40747600-40753200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr19:40747600-40757400	Weak transcription	Primary B cells from cord blood	blood
20	chr19:40747800-40752800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr19:40748000-40754000	Weak transcription	Colon Smooth Muscle	Colon
22	chr19:40748000-40755400	Weak transcription	Fetal Lung	lung
23	chr19:40748200-40753400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr19:40748200-40753800	Enhancers	Adipose Nuclei	Adipose
25	chr19:40748200-40757600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr19:40748200-40758200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:40748400-40755400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr19:40748400-40755600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr19:40748400-40758400	Weak transcription	Osteobl	bone
30	chr19:40748400-40761000	Weak transcription	Small Intestine	intestine
31	chr19:40748600-40752600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:40748600-40752600	Weak transcription	Gastric	stomach
33	chr19:40748600-40752800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:40748600-40752800	Weak transcription	Aorta	Aorta
35	chr19:40748600-40752800	Weak transcription	Pancreas	Pancrea
36	chr19:40748600-40753000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:40748600-40753200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr19:40748600-40753200	Weak transcription	HepG2	liver
39	chr19:40748600-40753400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr19:40748600-40753400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr19:40748600-40753800	Weak transcription	NHLF	lung
42	chr19:40748600-40755000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:40748600-40755200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:40748600-40755200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr19:40748600-40755400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr19:40748600-40758000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr19:40748600-40759400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr19:40748800-40752600	Weak transcription	Colonic Mucosa	Colon
49	chr19:40748800-40753200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:40748800-40753600	Weak transcription	A549	lung

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