Variant report

Variant	rs7247366
Chromosome Location	chr19:19889148-19889149
allele	A/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	FOXA2	chr19:19889144-19889467	HepG2	liver:	n/a	n/a
2	MXI1	chr19:19886113-19889151	SK-N-SH	brain:	n/a	chr19:19886836-19886845

Variant related genes	Relation type
LINC00663	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11878966	1.00[EUR][1000 genomes]
rs11879251	1.00[EUR][1000 genomes]
rs11880104	1.00[EUR][1000 genomes]
rs11882164	1.00[EUR][1000 genomes]
rs11883102	1.00[EUR][1000 genomes]
rs17378427	1.00[EUR][1000 genomes]
rs34087491	1.00[EUR][1000 genomes]
rs57474361	1.00[EUR][1000 genomes]
rs58294398	1.00[EUR][1000 genomes]
rs60101043	1.00[EUR][1000 genomes]
rs60133934	1.00[EUR][1000 genomes]
rs60610603	1.00[EUR][1000 genomes]
rs61489113	1.00[EUR][1000 genomes]
rs7248802	1.00[EUR][1000 genomes]
rs7250144	1.00[EUR][1000 genomes]
rs7253515	1.00[EUR][1000 genomes]
rs7257247	1.00[EUR][1000 genomes]
rs7258865	1.00[EUR][1000 genomes]
rs73537247	1.00[EUR][1000 genomes]
rs73537262	1.00[EUR][1000 genomes]
rs73537266	1.00[EUR][1000 genomes]
rs73539233	1.00[EUR][1000 genomes]
rs73539261	1.00[EUR][1000 genomes]
rs73541334	1.00[EUR][1000 genomes]
rs73541344	1.00[EUR][1000 genomes]
rs73541360	1.00[EUR][1000 genomes]
rs73541377	1.00[EUR][1000 genomes]
rs8105557	1.00[EUR][1000 genomes]
rs8111841	1.00[EUR][1000 genomes]
rs8112744	1.00[EUR][1000 genomes]
rs8113100	1.00[EUR][1000 genomes]
rs9676945	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv911312	chr19:19861682-19917662	Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv458375	chr19:19863014-19949209	Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv578798	chr19:19863014-19949209	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv911313	chr19:19866371-19936078	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv911314	chr19:19866371-20021046	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
9	nsv911315	chr19:19872093-20021046	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7247366	ENTHD1	trans	lymphoblastoid	seeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19888000-19889200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:19888000-19889200	Enhancers	Gastric	stomach
3	chr19:19888000-19892600	Weak transcription	Esophagus	oesophagus
4	chr19:19888000-19897000	Weak transcription	Left Ventricle	heart
5	chr19:19888000-19897200	Weak transcription	Aorta	Aorta
6	chr19:19888000-19899600	Weak transcription	Ovary	ovary
7	chr19:19888200-19889400	Enhancers	Fetal Brain Male	brain
8	chr19:19888200-19889600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:19888200-19890600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr19:19888200-19902200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:19888400-19889200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:19888400-19889200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr19:19888400-19889200	Weak transcription	NHDF-Ad	bronchial
14	chr19:19888400-19889400	Enhancers	Primary B cells from cord blood	blood
15	chr19:19888400-19889400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr19:19888400-19889400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr19:19888400-19889600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:19888400-19889600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr19:19888400-19889600	Enhancers	Colon Smooth Muscle	Colon
20	chr19:19888400-19889800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:19888400-19889800	Enhancers	Pancreas	Pancrea
22	chr19:19888400-19890600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr19:19888400-19892200	ZNF genes & repeats	GM12878-XiMat	blood
24	chr19:19888400-19892800	Weak transcription	Right Atrium	heart
25	chr19:19888400-19895600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:19888400-19897200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:19888400-19897200	Weak transcription	Brain Angular Gyrus	brain
28	chr19:19888400-19897200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr19:19888400-19897200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr19:19888400-19897400	Weak transcription	Placenta	Placenta
31	chr19:19888400-19899000	Weak transcription	Right Ventricle	heart
32	chr19:19888400-19899400	Weak transcription	HSMM	muscle
33	chr19:19888400-19927800	Weak transcription	Psoas Muscle	Psoas
34	chr19:19888600-19889200	Enhancers	Primary T cells from cord blood	blood
35	chr19:19888600-19889200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:19888600-19889200	Weak transcription	Fetal Intestine Large	intestine
37	chr19:19888600-19889200	Weak transcription	A549	lung
38	chr19:19888600-19889400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr19:19888600-19889400	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr19:19888600-19889400	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr19:19888600-19889400	Enhancers	Fetal Brain Female	brain
42	chr19:19888600-19889400	Weak transcription	NH-A	brain
43	chr19:19888600-19890200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:19888600-19890400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:19888600-19890800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr19:19888600-19891000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:19888600-19891800	Weak transcription	Fetal Kidney	kidney
48	chr19:19888600-19892800	Weak transcription	Brain Anterior Caudate	brain
49	chr19:19888600-19895600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr19:19888600-19895600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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