Variant report

Variant	rs60849153
Chromosome Location	chr9:116110034-116110035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116109902..116113383-chr9:116162345..116166968,8	MCF-7	breast:
2	chr9:116060077..116063011-chr9:116109868..116112387,2	MCF-7	breast:
3	chr9:116108733..116111186-chr9:116118329..116120582,2	MCF-7	breast:
4	chr9:116108849..116110601-chr9:116170239..116173217,2	K562	blood:
5	chr9:116108846..116117047-chr9:116126327..116140994,30	MCF-7	breast:
6	chr9:116109912..116111859-chr9:116161206..116163943,2	K562	blood:
7	chr9:116038056..116040048-chr9:116108621..116111534,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148229	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000148218	Chromatin interaction
ENSG00000119431	Chromatin interaction
ENSG00000165188	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10481639	1.00[ASN][1000 genomes]
rs10817480	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10981731	0.86[ASN][1000 genomes]
rs10981733	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10981740	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10981741	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10981742	1.00[ASN][1000 genomes]
rs10981743	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10981744	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10981745	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10981746	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10981747	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10981748	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10981750	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10981751	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10981752	1.00[ASN][1000 genomes]
rs10981760	0.84[EUR][1000 genomes]
rs12006029	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12337552	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12338029	1.00[ASN][1000 genomes]
rs12339382	1.00[ASN][1000 genomes]
rs12344170	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12344525	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12351134	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12351296	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13440199	0.93[ASN][1000 genomes]
rs1543535	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16932583	1.00[ASN][1000 genomes]
rs17764563	0.86[ASN][1000 genomes]
rs28495580	0.84[EUR][1000 genomes]
rs28607343	0.84[EUR][1000 genomes]
rs41276795	1.00[ASN][1000 genomes]
rs4324980	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4437724	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4442214	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4445296	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4560870	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4636275	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60528957	0.84[EUR][1000 genomes]
rs66649870	0.84[EUR][1000 genomes]
rs67292897	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7025347	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7041782	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7863485	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7865438	1.00[ASN][1000 genomes]
rs7875945	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs60849153	BSPRY	Cis_1M	lymphoblastoid	RTeQTL
rs60849153	WDR31	cis	brain	BrainEAC

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116103000-116111800	Weak transcription	Lung	lung
2	chr9:116103200-116111400	Weak transcription	Stomach Mucosa	stomach
3	chr9:116103200-116111400	Weak transcription	GM12878-XiMat	blood
4	chr9:116105800-116110200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr9:116105800-116111400	Enhancers	Fetal Intestine Small	intestine
6	chr9:116105800-116111400	Weak transcription	Right Ventricle	heart
7	chr9:116106200-116111400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr9:116106400-116110400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr9:116106600-116111400	Weak transcription	Liver	Liver
10	chr9:116106600-116111400	Weak transcription	Esophagus	oesophagus
11	chr9:116106600-116111400	Weak transcription	Pancreas	Pancrea
12	chr9:116106600-116111800	Weak transcription	K562	blood
13	chr9:116107600-116111600	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:116107800-116111200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:116108000-116111400	Weak transcription	Brain Anterior Caudate	brain
16	chr9:116108000-116111600	Weak transcription	Brain Angular Gyrus	brain
17	chr9:116108000-116112000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:116108200-116111200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr9:116108200-116112000	Weak transcription	Brain Substantia Nigra	brain
20	chr9:116108600-116111400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr9:116108800-116111400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:116108800-116111400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:116108800-116111800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:116109600-116110200	Enhancers	Fetal Intestine Large	intestine
25	chr9:116109600-116111400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr9:116109800-116110400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:116109800-116111200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:116110000-116110200	Active TSS	Colonic Mucosa	Colon
29	chr9:116110000-116110200	Enhancers	Fetal Heart	heart
30	chr9:116110000-116110400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:116110000-116110400	Enhancers	Right Atrium	heart
32	chr9:116110000-116110400	Enhancers	Small Intestine	intestine
33	chr9:116110000-116110600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr9:116110000-116110800	Enhancers	Primary hematopoietic stem cells	blood
35	chr9:116110000-116111400	Enhancers	Duodenum Mucosa	Duodenum

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