Variant report

Variant	rs8040100
Chromosome Location	chr15:59464610-59464611
allele	C/T
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	chr15:59464502-59464820	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
MIR2116	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11852281	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854052	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854099	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857218	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858347	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12442723	0.90[CEU][hapmap];0.89[GIH][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs12916831	0.88[ASN][1000 genomes]
rs17190785	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17269517	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1872742	0.88[ASN][1000 genomes]
rs2087123	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs2101394	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2306790	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41505445	0.82[GIH][hapmap]
rs58124311	1.00[ASN][1000 genomes]
rs7165444	0.86[ASN][1000 genomes]
rs7182408	0.93[ASN][1000 genomes]
rs923242	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1035868	chr15:59402426-59530594	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8040100	AQP9	cis	cerebellum	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59431800-59467200	Weak transcription	Fetal Brain Female	brain
2	chr15:59432000-59465600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:59434200-59467000	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr15:59436000-59473000	Weak transcription	Brain Germinal Matrix	brain
5	chr15:59437800-59484400	Weak transcription	Fetal Brain Male	brain
6	chr15:59445600-59479600	Weak transcription	Fetal Kidney	kidney
7	chr15:59445800-59467000	Weak transcription	Fetal Heart	heart
8	chr15:59451200-59473600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:59451400-59470400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr15:59451600-59474600	Weak transcription	Psoas Muscle	Psoas
11	chr15:59451800-59466000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:59453400-59467200	Weak transcription	Colon Smooth Muscle	Colon
13	chr15:59453800-59470000	Weak transcription	Right Ventricle	heart
14	chr15:59454000-59482000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:59454800-59471600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:59455200-59467200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:59458000-59470000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr15:59458600-59473800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr15:59459000-59464800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:59459200-59466800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr15:59459400-59467000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:59460600-59464800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:59460600-59464800	Genic enhancers	NHEK	skin
24	chr15:59460600-59465800	Strong transcription	GM12878-XiMat	blood
25	chr15:59460800-59466200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:59461000-59474800	Strong transcription	Liver	Liver
27	chr15:59461200-59466200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:59461200-59467000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:59461400-59466800	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:59461600-59466400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr15:59461800-59467200	Strong transcription	Hela-S3	cervix
32	chr15:59462000-59465000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:59462000-59466800	Strong transcription	Fetal Intestine Small	intestine
34	chr15:59462000-59467000	Strong transcription	Fetal Intestine Large	intestine
35	chr15:59462000-59467200	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr15:59462400-59465400	Strong transcription	Fetal Muscle Leg	muscle
37	chr15:59462400-59465400	Strong transcription	Fetal Stomach	stomach
38	chr15:59462400-59467200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr15:59462600-59464800	Genic enhancers	HMEC	breast
40	chr15:59462600-59466800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr15:59462800-59466200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:59462800-59466800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr15:59462800-59467000	Weak transcription	Right Atrium	heart
44	chr15:59463000-59466000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr15:59463000-59466600	Weak transcription	Stomach Mucosa	stomach
46	chr15:59463000-59466800	Weak transcription	Adipose Nuclei	Adipose
47	chr15:59463000-59467000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr15:59463200-59465000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr15:59463200-59465400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:59463200-59465800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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