Variant report

Variant	rs10981745
Chromosome Location	chr9:116104526-116104527
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr9:116103692-116104672	HCT-116	colon:	n/a	n/a
2	ELF1	chr9:116103844-116104550	MCF-7	breast:	n/a	n/a
3	NFIC	chr9:116103892-116104804	ECC-1	luminal epithelium:	n/a	n/a
4	JUND	chr9:116103792-116104583	HCT-116	colon:	n/a	chr9:116104160-116104171
5	ATF2	chr9:116104286-116104627	H1-hESC	embryonic stem cell:	n/a	n/a
6	NFYB	chr9:116104350-116104619	K562	blood:	n/a	n/a
7	BCL3	chr9:116104482-116104766	GM12878	blood:	n/a	n/a
8	NFIC	chr9:116103923-116104801	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:9 , 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	chr9:116094633..116097880-chr9:116104158..116105941,3	MCF-7	breast:
4	chr2:232379204..232382044-chr9:116102991..116105023,2	MCF-7	breast:
5	chr9:116103857..116106255-chr9:116138187..116140554,2	MCF-7	breast:
6	chr9:116099899..116105558-chr9:116170913..116174361,7	MCF-7	breast:
7	chr9:116103291..116106183-chr9:116133139..116134993,2	K562	blood:
8	chr9:116063977..116066911-chr9:116102342..116104616,4	MCF-7	breast:
9	chr9:116063284..116065510-chr9:116102338..116105750,4	MCF-7	breast:

No data

Variant related genes	Relation type
WDR31	TF binding region
ENSG00000157653	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000148218	Chromatin interaction
ENSG00000165188	Chromatin interaction
ENSG00000119431	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10481639	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10481674	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap]
rs10817480	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981726	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10981731	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10981733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981742	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981743	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981746	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981747	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981748	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981750	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981751	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981752	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981760	0.85[EUR][1000 genomes]
rs12006029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12336832	1.00[JPT][hapmap]
rs12337552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12338029	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12339382	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342549	1.00[JPT][hapmap]
rs12344170	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12344525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12348629	1.00[JPT][hapmap]
rs12349500	1.00[JPT][hapmap]
rs12351134	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12351296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12351630	0.93[EUR][1000 genomes]
rs12352925	1.00[JPT][hapmap]
rs13440199	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1543535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932649	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs17764563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17831256	1.00[JPT][hapmap]
rs28495580	0.85[EUR][1000 genomes]
rs28607343	0.85[EUR][1000 genomes]
rs3750529	1.00[CHB][hapmap]
rs3789254	1.00[CHB][hapmap]
rs41276795	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324980	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4437724	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4442214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4445296	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560870	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4636275	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5012573	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60528957	0.85[EUR][1000 genomes]
rs60849153	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66649870	0.85[EUR][1000 genomes]
rs67292897	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7025347	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7027445	0.93[EUR][1000 genomes]
rs7041782	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7863485	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7863910	1.00[JPT][hapmap]
rs7865438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7875945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[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
rs10981745	BSPRY	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116102800-116104600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:116102800-116105800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:116103000-116104600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr9:116103000-116105600	Weak transcription	Left Ventricle	heart
5	chr9:116103000-116106200	Weak transcription	Esophagus	oesophagus
6	chr9:116103000-116107200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:116103000-116111800	Weak transcription	Lung	lung
8	chr9:116103200-116104600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr9:116103200-116104600	Weak transcription	Psoas Muscle	Psoas
10	chr9:116103200-116104600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr9:116103200-116104800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr9:116103200-116104800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:116103200-116104800	Enhancers	HMEC	breast
14	chr9:116103200-116105000	Weak transcription	Right Ventricle	heart
15	chr9:116103200-116105200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:116103200-116105400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:116103200-116105600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:116103200-116105600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:116103200-116105600	Weak transcription	Brain Anterior Caudate	brain
20	chr9:116103200-116105600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:116103200-116105600	Weak transcription	Brain Substantia Nigra	brain
22	chr9:116103200-116105600	Weak transcription	Colon Smooth Muscle	Colon
23	chr9:116103200-116105600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr9:116103200-116105800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:116103200-116105800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:116103200-116105800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr9:116103200-116105800	Weak transcription	Fetal Intestine Small	intestine
28	chr9:116103200-116105800	Weak transcription	Fetal Lung	lung
29	chr9:116103200-116105800	Weak transcription	Fetal Muscle Leg	muscle
30	chr9:116103200-116105800	Weak transcription	NHDF-Ad	bronchial
31	chr9:116103200-116106000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr9:116103200-116106200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr9:116103200-116106200	Weak transcription	Colonic Mucosa	Colon
34	chr9:116103200-116106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:116103200-116106400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr9:116103200-116107000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr9:116103200-116107200	Weak transcription	Brain Angular Gyrus	brain
38	chr9:116103200-116107400	Weak transcription	Fetal Intestine Large	intestine
39	chr9:116103200-116108000	Enhancers	Fetal Heart	heart
40	chr9:116103200-116108200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr9:116103200-116108600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:116103200-116108800	Weak transcription	Placenta	Placenta
43	chr9:116103200-116110000	Weak transcription	Right Atrium	heart
44	chr9:116103200-116111400	Weak transcription	Stomach Mucosa	stomach
45	chr9:116103200-116111400	Weak transcription	GM12878-XiMat	blood
46	chr9:116103400-116104600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr9:116103400-116105400	Weak transcription	Brain Hippocampus Middle	brain
48	chr9:116103400-116105600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr9:116103400-116105800	Weak transcription	Liver	Liver
50	chr9:116103400-116105800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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