Variant report

Variant	rs11631073
Chromosome Location	chr15:57614545-57614546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:57596677..57601983-chr15:57611239..57618411,9	K562	blood:
2	chr15:57022824..57027100-chr15:57611258..57614634,3	K562	blood:
3	chr15:57592002..57594571-chr15:57612516..57615928,4	K562	blood:
4	chr15:57610844..57612856-chr15:57612872..57614940,2	K562	blood:
5	chr15:57209252..57213677-chr15:57612967..57616292,5	K562	blood:
6	chr15:57022824..57025649-chr15:57612283..57614634,3	K562	blood:
7	chr15:57592053..57595203-chr15:57613794..57616667,3	K562	blood:
8	chr15:57574448..57575948-chr15:57613094..57616013,2	K562	blood:
9	chr15:57614506..57616256-chr15:57638929..57640760,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000247982	Chromatin interaction
ENSG00000137871	Chromatin interaction
ENSG00000260172	Chromatin interaction
ENSG00000140262	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1007048	0.87[ASN][1000 genomes]
rs10459625	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs11071311	0.82[ASW][hapmap];0.85[CEU][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs11855537	0.85[EUR][1000 genomes]
rs11857206	0.85[ASN][1000 genomes]
rs12904145	0.87[CEU][hapmap]
rs12905158	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs12913286	0.84[EUR][1000 genomes]
rs12917506	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs17820184	0.88[CEU][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.83[TSI][hapmap]
rs2414501	0.91[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2431018	0.85[CEU][hapmap]
rs2544132	0.88[CEU][hapmap]
rs2591053	0.83[EUR][1000 genomes]
rs2591054	0.83[CEU][hapmap]
rs4534776	0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4774256	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4774924	0.85[CEU][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs4774926	0.91[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs4774927	0.85[CEU][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes]
rs4774928	0.85[EUR][1000 genomes]
rs61999614	0.85[EUR][1000 genomes]
rs61999616	0.89[ASN][1000 genomes]
rs61999617	0.89[ASN][1000 genomes]
rs749248	0.89[ASN][1000 genomes]
rs8027325	0.83[EUR][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	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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 target site	49 gene(s)	inside rSNPs	diseases
2	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11631073	TEX9	cis	cerebellum	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57599600-57617800	Weak transcription	Spleen	Spleen
2	chr15:57602800-57617000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:57605000-57619400	Weak transcription	Pancreas	Pancrea
4	chr15:57611200-57615000	Enhancers	Fetal Muscle Trunk	muscle
5	chr15:57611400-57616400	Enhancers	Fetal Muscle Leg	muscle
6	chr15:57611400-57620600	Enhancers	Fetal Intestine Small	intestine
7	chr15:57612000-57615800	Enhancers	Fetal Intestine Large	intestine
8	chr15:57612400-57617800	Enhancers	Fetal Thymus	thymus
9	chr15:57612600-57615200	Weak transcription	Colonic Mucosa	Colon
10	chr15:57612600-57616000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:57612600-57616400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:57612600-57616400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:57612600-57616400	Weak transcription	Fetal Brain Male	brain
14	chr15:57612600-57616400	Enhancers	HUVEC	blood vessel
15	chr15:57612600-57617600	Enhancers	Stomach Mucosa	stomach
16	chr15:57612800-57615600	Weak transcription	Lung	lung
17	chr15:57612800-57616400	Enhancers	Primary hematopoietic stem cells	blood
18	chr15:57612800-57619400	Weak transcription	Fetal Lung	lung
19	chr15:57613000-57614600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:57613000-57614600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:57613000-57614800	Weak transcription	Fetal Stomach	stomach
22	chr15:57613000-57616200	Enhancers	Duodenum Mucosa	Duodenum
23	chr15:57613000-57616400	Enhancers	Thymus	Thymus
24	chr15:57613000-57626800	Weak transcription	Right Atrium	heart
25	chr15:57613000-57635400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:57613200-57614600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr15:57613200-57614800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:57613200-57615000	Weak transcription	A549	lung
29	chr15:57613200-57615600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr15:57613200-57615600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:57613200-57615800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:57613200-57615800	Weak transcription	HSMM	muscle
33	chr15:57613200-57617000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:57613200-57619200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:57613200-57619400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr15:57613400-57616000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:57613400-57616800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:57613400-57619200	Weak transcription	NH-A	brain
39	chr15:57613600-57615400	Weak transcription	Brain Anterior Caudate	brain
40	chr15:57613600-57615800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:57613600-57615800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr15:57613600-57615800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr15:57613600-57616000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:57613600-57616000	Weak transcription	Osteobl	bone
45	chr15:57613600-57619000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr15:57613800-57615200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr15:57614000-57614800	Enhancers	Dnd41	blood
48	chr15:57614000-57616400	Flanking Active TSS	K562	blood
49	chr15:57614200-57614600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:57614200-57614600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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