Variant report

Variant	rs12344264
Chromosome Location	chr9:116117625-116117626
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116116765..116119707-chr9:116134717..116136429,2	K562	blood:
2	chr9:116116293..116119291-chr9:116122385..116124255,2	K562	blood:
3	chr9:116116926..116118576-chr9:116159060..116160731,2	MCF-7	breast:
4	chr9:116116183..116118289-chr9:116124994..116127482,2	K562	blood:
5	chr9:116116941..116119780-chr9:116168101..116172088,3	MCF-7	breast:
6	chr9:116117613..116119725-chr9:116129685..116131579,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148218	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3763667	0.91[EUR][1000 genomes]
rs55917620	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67452982	0.80[EUR][1000 genomes]
rs7031584	0.80[EUR][1000 genomes]
rs7873616	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv519849	chr9:116111407-116144973	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12344264	BSPRY	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116112800-116122800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:116113000-116135600	Weak transcription	Colonic Mucosa	Colon
3	chr9:116113000-116138000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:116113400-116135200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:116113800-116122200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr9:116113800-116137800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr9:116114000-116127400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr9:116114200-116136400	Weak transcription	Primary B cells from cord blood	blood
9	chr9:116115000-116121600	Weak transcription	Gastric	stomach
10	chr9:116115200-116119000	Weak transcription	HepG2	liver
11	chr9:116115200-116121000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr9:116115200-116121600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr9:116115400-116123400	Weak transcription	Stomach Mucosa	stomach
14	chr9:116115400-116135000	Weak transcription	Esophagus	oesophagus
15	chr9:116115600-116121600	Weak transcription	Pancreas	Pancrea
16	chr9:116115600-116132800	Weak transcription	Fetal Intestine Large	intestine
17	chr9:116115800-116125800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:116116200-116122600	Weak transcription	Brain Anterior Caudate	brain
19	chr9:116116400-116118000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr9:116116400-116137000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:116116600-116126400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:116117000-116118200	Strong transcription	Fetal Intestine Small	intestine

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