Variant report

Variant	rs11667640
Chromosome Location	chr19:45379791-45379792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45379713..45383483-chr19:45392090..45394912,6	MCF-7	breast:
2	chr19:45378663..45382201-chr19:45390282..45393637,3	K562	blood:
3	chr19:45377362..45380336-chr19:45384339..45386489,2	K562	blood:
4	chr19:45372274..45375203-chr19:45378848..45380523,3	K562	blood:
5	chr19:45373356..45375203-chr19:45378848..45381495,4	K562	blood:
6	chr19:45371560..45373287-chr19:45378257..45380340,2	K562	blood:

Variant related genes	Relation type
ENSG00000130202	Chromatin interaction
ENSG00000130204	Chromatin interaction
ENSG00000267282	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10424663	1.00[CHB][hapmap]
rs11665676	0.84[EUR][1000 genomes]
rs11672399	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11879589	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs3852857	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4081918	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs41290110	1.00[ASN][1000 genomes]
rs41290122	0.90[ASN][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	nsv534183	chr19:45351707-45385809	Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
2	nsv912129	chr19:45379791-45448465	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11667640	CTB-129P6.4	cis	Whole Blood	GTEx
rs11667640	PVRL2	cis	Whole Blood	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45354200-45382600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:45360400-45381800	Weak transcription	Psoas Muscle	Psoas
3	chr19:45367200-45392200	Strong transcription	Fetal Stomach	stomach
4	chr19:45367400-45382400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr19:45368000-45380400	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr19:45368000-45381200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr19:45368000-45383400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:45368200-45380000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:45368200-45382400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:45368200-45383400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:45368600-45380400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:45369800-45393000	Weak transcription	Brain Angular Gyrus	brain
13	chr19:45373000-45393000	Weak transcription	Fetal Brain Male	brain
14	chr19:45373400-45383400	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr19:45373800-45383600	Strong transcription	Liver	Liver
16	chr19:45374400-45380400	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr19:45374400-45382200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:45374400-45383200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr19:45374400-45383800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr19:45374600-45379800	Strong transcription	Fetal Brain Female	brain
21	chr19:45374600-45380200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr19:45374600-45381800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:45374600-45382600	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr19:45374600-45382800	Strong transcription	Brain Germinal Matrix	brain
25	chr19:45374600-45382800	Strong transcription	Ovary	ovary
26	chr19:45374800-45381000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:45374800-45382000	Strong transcription	HepG2	liver
28	chr19:45374800-45382400	Strong transcription	Spleen	Spleen
29	chr19:45374800-45383200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr19:45374800-45383400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:45375000-45379800	Strong transcription	Fetal Lung	lung
32	chr19:45375000-45379800	Strong transcription	Rectal Smooth Muscle	rectum
33	chr19:45375000-45380200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr19:45375000-45380400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr19:45375000-45381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:45375000-45382000	Strong transcription	Aorta	Aorta
37	chr19:45375000-45382600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:45375000-45383000	Strong transcription	Gastric	stomach
39	chr19:45375000-45383200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:45375000-45383600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:45375200-45380600	Strong transcription	Colon Smooth Muscle	Colon
42	chr19:45375400-45379800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr19:45375400-45379800	Strong transcription	Pancreatic Islets	Pancreatic Islet
44	chr19:45375400-45380400	Strong transcription	Fetal Kidney	kidney
45	chr19:45375400-45381800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:45375400-45382600	Strong transcription	Lung	lung
47	chr19:45375600-45383200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:45375600-45392800	Weak transcription	Hela-S3	cervix
49	chr19:45376000-45382200	Strong transcription	Left Ventricle	heart
50	chr19:45376000-45393000	Weak transcription	NHDF-Ad	bronchial

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