Variant report

Variant	rs8111742
Chromosome Location	chr19:52195474-52195475
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	POLR2A	chr19:52195342-52196040	K562	blood:	n/a	n/a
2	POLR2A	chr19:52195178-52195884	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr19:52191073-52195667	MCF-7	breast:	n/a	n/a
4	POLR2A	chr19:52195045-52195832	K562	blood:	n/a	n/a
5	ZNF263	chr19:52195323-52196152	HEK293-T-REx	kidney:	n/a	chr19:52195636-52195657
6	ZNF263	chr19:52195373-52196072	K562	blood:	n/a	chr19:52195636-52195657

Variant related genes	Relation type
SPACA6P	TF binding region
ENSG00000273318	TF binding region
MIR99B	TF binding region
MIR125A	TF binding region
MIRLET7E	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs8109852	0.85[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
2	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
3	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases
4	nsv1064914	chr19:52103914-52231564	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	529 gene(s)	inside rSNPs	diseases
5	nsv544052	chr19:52103914-52271247	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	531 gene(s)	inside rSNPs	diseases
6	nsv1056825	chr19:52103914-52359815	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
7	nsv544053	chr19:52103914-52359815	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
8	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
9	esv1843680	chr19:52131510-52211749	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
10	nsv1066046	chr19:52147399-52271247	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
11	nsv544054	chr19:52147399-52271247	Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
12	nsv912296	chr19:52182363-52231032	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	518 gene(s)	inside rSNPs	diseases
13	nsv915725	chr19:52184488-52439676	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
14	nsv9742	chr19:52187538-52221742	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	517 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8111742	ZNF587	cis	cerebellum	SCAN
rs8111742	ZNF784	cis	cerebellum	SCAN
rs8111742	RPS5	cis	cerebellum	SCAN
rs8111742	SLC27A5	cis	parietal	SCAN
rs8111742	MGC2752	cis	parietal	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52191000-52195800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr19:52191200-52196200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:52191200-52196200	Active TSS	Fetal Kidney	kidney
4	chr19:52191800-52195800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:52193400-52195600	Active TSS	Duodenum Mucosa	Duodenum
6	chr19:52194200-52196000	Enhancers	Spleen	Spleen
7	chr19:52194200-52205400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:52194400-52195600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr19:52194400-52195600	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr19:52194400-52195800	Flanking Active TSS	K562	blood
11	chr19:52194400-52195800	Flanking Active TSS	Osteobl	bone
12	chr19:52194600-52195600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:52194600-52195600	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr19:52194600-52195600	Enhancers	Fetal Thymus	thymus
15	chr19:52194600-52195800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr19:52194600-52195800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr19:52194600-52195800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:52194600-52195800	Flanking Active TSS	HUVEC	blood vessel
19	chr19:52194600-52196000	Flanking Active TSS	HMEC	breast
20	chr19:52194600-52196200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:52194600-52196200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:52194600-52196200	Flanking Active TSS	Fetal Brain Female	brain
23	chr19:52194600-52196200	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr19:52194600-52205800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr19:52194600-52207000	Weak transcription	Psoas Muscle	Psoas
26	chr19:52194800-52195600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:52194800-52195600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:52194800-52195600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:52194800-52195600	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr19:52194800-52195800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr19:52194800-52195800	Flanking Active TSS	Placenta	Placenta
32	chr19:52194800-52195800	Enhancers	NHEK	skin
33	chr19:52194800-52196200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr19:52194800-52196600	Weak transcription	Aorta	Aorta
35	chr19:52194800-52196800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:52194800-52198600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:52194800-52204600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr19:52194800-52205200	Weak transcription	Stomach Mucosa	stomach
39	chr19:52195000-52195600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:52195000-52195600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:52195000-52195600	Flanking Active TSS	Ovary	ovary
42	chr19:52195000-52195600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
43	chr19:52195000-52195800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr19:52195000-52196400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:52195000-52196400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:52195000-52196400	Enhancers	Fetal Heart	heart
47	chr19:52195000-52197000	Enhancers	Fetal Brain Male	brain
48	chr19:52195000-52198000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr19:52195000-52198000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr19:52195000-52205600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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