Variant report

Variant	rs10981750
Chromosome Location	chr9:116105981-116105982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr9:116105961-116106410	K562	blood:	n/a	n/a
2	KAP1	chr9:116105906-116106555	HEK293	kidney:	n/a	n/a
3	RCOR1	chr9:116105953-116106435	K562	blood:	n/a	n/a
4	KAP1	chr9:116105865-116106514	U2OS	brain:	n/a	n/a
5	USF1	chr9:116105942-116106422	K562	blood:	n/a	chr9:116106204-116106215
6	MXI1	chr9:116105716-116106721	SK-N-SH	brain:	n/a	n/a
7	CBX3	chr9:116105559-116106454	K562	blood:	n/a	n/a
8	GATA3	chr9:116105603-116106015	SH-SY5Y	brain:	n/a	n/a
9	POLR2A	chr9:116105851-116106610	PBDE	blood:	n/a	n/a
10	ZNF263	chr9:116105761-116106559	HEK293-T-REx	kidney:	n/a	chr9:116106409-116106418
11	BHLHE40	chr9:116105882-116106458	K562	blood:	n/a	n/a
12	RCOR1	chr9:116105943-116106467	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116103587..116106029-chr9:116160047..116164950,6	MCF-7	breast:
2	chr9:116102720..116107904-chr9:116161009..116164019,5	MCF-7	breast:
3	chr9:116091449..116094429-chr9:116104938..116107109,2	MCF-7	breast:
4	chr9:116103857..116106255-chr9:116138187..116140554,2	MCF-7	breast:
5	chr9:116103291..116106183-chr9:116133139..116134993,2	K562	blood:

No data

Variant related genes	Relation type
WDR31	TF binding region
ENSG00000119431	Chromatin interaction
ENSG00000148218	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10481639	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10817480	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981726	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10981731	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10981733	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981740	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981741	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981742	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981743	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981744	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981745	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981746	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981747	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981748	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981751	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981752	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981760	0.84[EUR][1000 genomes]
rs12006029	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12337552	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12338029	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12339382	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12344170	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12344525	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12351134	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12351296	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12351630	0.92[EUR][1000 genomes]
rs13440199	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1543535	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932583	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932649	0.95[EUR][1000 genomes]
rs17764563	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28495580	0.84[EUR][1000 genomes]
rs28607343	0.84[EUR][1000 genomes]
rs41276795	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324980	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4437724	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4442214	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4445296	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560870	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4636275	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5012573	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60528957	0.84[EUR][1000 genomes]
rs60849153	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66649870	0.84[EUR][1000 genomes]
rs67292897	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7025347	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7027445	0.92[EUR][1000 genomes]
rs7041782	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7863485	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7865438	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7875945	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10981750	BSPRY	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116103000-116106200	Weak transcription	Esophagus	oesophagus
2	chr9:116103000-116107200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:116103000-116111800	Weak transcription	Lung	lung
4	chr9:116103200-116106000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr9:116103200-116106200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr9:116103200-116106200	Weak transcription	Colonic Mucosa	Colon
7	chr9:116103200-116106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:116103200-116106400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr9:116103200-116107000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr9:116103200-116107200	Weak transcription	Brain Angular Gyrus	brain
11	chr9:116103200-116107400	Weak transcription	Fetal Intestine Large	intestine
12	chr9:116103200-116108000	Enhancers	Fetal Heart	heart
13	chr9:116103200-116108200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr9:116103200-116108600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:116103200-116108800	Weak transcription	Placenta	Placenta
16	chr9:116103200-116110000	Weak transcription	Right Atrium	heart
17	chr9:116103200-116111400	Weak transcription	Stomach Mucosa	stomach
18	chr9:116103200-116111400	Weak transcription	GM12878-XiMat	blood
19	chr9:116103400-116106200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:116103400-116106200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr9:116103400-116106200	Weak transcription	Pancreas	Pancrea
22	chr9:116103400-116106600	Weak transcription	Adipose Nuclei	Adipose
23	chr9:116103600-116106200	Weak transcription	Fetal Stomach	stomach
24	chr9:116104000-116106200	Weak transcription	Hela-S3	cervix
25	chr9:116104000-116108400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr9:116104600-116106400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:116104800-116106200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr9:116105400-116108200	Enhancers	Brain Hippocampus Middle	brain
29	chr9:116105400-116108800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:116105600-116106000	Enhancers	Brain Anterior Caudate	brain
31	chr9:116105600-116106600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:116105600-116106600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:116105600-116106600	Enhancers	Brain Cingulate Gyrus	brain
34	chr9:116105600-116106600	Enhancers	Left Ventricle	heart
35	chr9:116105600-116106600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr9:116105600-116106600	Enhancers	Dnd41	blood
37	chr9:116105600-116107600	Enhancers	Colon Smooth Muscle	Colon
38	chr9:116105600-116107800	Enhancers	Primary hematopoietic stem cells	blood
39	chr9:116105600-116107800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr9:116105600-116107800	Enhancers	Rectal Smooth Muscle	rectum
41	chr9:116105600-116108200	Enhancers	Brain Substantia Nigra	brain
42	chr9:116105800-116106000	Enhancers	Small Intestine	intestine
43	chr9:116105800-116106200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:116105800-116106200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr9:116105800-116106200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr9:116105800-116106200	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr9:116105800-116106400	Enhancers	HepG2	liver
48	chr9:116105800-116106400	Enhancers	NHDF-Ad	bronchial
49	chr9:116105800-116106600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:116105800-116106600	Enhancers	Liver	Liver

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