Variant report

Variant	rs12910336
Chromosome Location	chr15:33487737-33487738
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	REST	chr15:33486420-33487784	H1-neurons	neurons:	n/a	chr15:33487089-33487102
2	SIN3A	chr15:33486580-33487759	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
FMN1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12902782	1.00[ASN][1000 genomes]
rs12902986	1.00[ASN][1000 genomes]
rs12903983	1.00[ASN][1000 genomes]
rs12907653	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12908986	1.00[ASN][1000 genomes]
rs16953757	1.00[ASN][1000 genomes]
rs28545416	1.00[ASN][1000 genomes]
rs28643381	1.00[ASN][1000 genomes]
rs34410148	1.00[ASN][1000 genomes]
rs345829	1.00[CHB][hapmap]
rs35414549	1.00[ASN][1000 genomes]
rs35573301	1.00[ASN][1000 genomes]
rs35877923	1.00[ASN][1000 genomes]
rs4780093	1.00[ASN][1000 genomes]
rs71462847	1.00[ASN][1000 genomes]
rs71462849	1.00[ASN][1000 genomes]
rs7179886	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv903981	chr15:33207082-33550256	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv903982	chr15:33282844-33616150	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv903983	chr15:33388030-33550256	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv482299	chr15:33449137-33624122	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv533346	chr15:33469439-33809641	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12910336	TJP1	cis	cerebellum	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33483600-33487800	Active TSS	Brain Angular Gyrus	brain
2	chr15:33484000-33487800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr15:33485800-33487800	Active TSS	Brain Cingulate Gyrus	brain
4	chr15:33485800-33488600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr15:33486000-33487800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr15:33486400-33487800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr15:33486400-33487800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr15:33486400-33487800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr15:33486400-33487800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:33486600-33487800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:33486600-33487800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:33486600-33487800	Active TSS	Brain Hippocampus Middle	brain
13	chr15:33486600-33487800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr15:33486600-33487800	Active TSS	Fetal Brain Male	brain
15	chr15:33486600-33487800	Active TSS	Rectal Smooth Muscle	rectum
16	chr15:33486600-33487800	Flanking Active TSS	HMEC	breast
17	chr15:33486600-33488000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr15:33486800-33487800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:33486800-33487800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr15:33486800-33487800	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr15:33487200-33487800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:33487200-33487800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr15:33487200-33487800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr15:33487200-33487800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:33487200-33487800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr15:33487200-33487800	Flanking Active TSS	A549	lung
27	chr15:33487200-33488000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr15:33487400-33487800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr15:33487400-33487800	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr15:33487400-33487800	Flanking Active TSS	Fetal Kidney	kidney
31	chr15:33487400-33487800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr15:33487600-33487800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr15:33487600-33487800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:33487600-33487800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:33487600-33487800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr15:33487600-33487800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
37	chr15:33487600-33487800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
38	chr15:33487600-33487800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr15:33487600-33487800	Enhancers	Primary B cells from peripheral blood	blood
40	chr15:33487600-33487800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr15:33487600-33487800	Active TSS	Primary hematopoietic stem cells	blood
42	chr15:33487600-33487800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr15:33487600-33487800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:33487600-33487800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr15:33487600-33487800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr15:33487600-33487800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr15:33487600-33487800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:33487600-33487800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:33487600-33487800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr15:33487600-33487800	Enhancers	Fetal Intestine Small	intestine

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