Variant report

Variant	rs7934497
Chromosome Location	chr11:10411717-10411718
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10410521..10412872-chr11:10414972..10416524,2	K562	blood:
2	chr11:10322917..10326761-chr11:10411066..10413981,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254554	Chromatin interaction
ENSG00000148926	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10770108	0.86[ASN][1000 genomes]
rs10840400	0.84[ASN][1000 genomes]
rs11042762	0.85[ASN][1000 genomes]
rs11042769	0.85[ASN][1000 genomes]
rs11042770	0.85[ASN][1000 genomes]
rs11042772	0.81[ASN][1000 genomes]
rs1597448	0.85[ASN][1000 genomes]
rs1597449	0.85[ASN][1000 genomes]
rs16907747	0.87[ASN][1000 genomes]
rs2198008	0.87[ASN][1000 genomes]
rs2198009	0.87[ASN][1000 genomes]
rs2198010	0.87[ASN][1000 genomes]
rs2403305	0.86[ASN][1000 genomes]
rs2403306	0.87[ASN][1000 genomes]
rs2923085	0.85[ASN][1000 genomes]
rs2923086	0.85[ASN][1000 genomes]
rs2923087	0.85[ASN][1000 genomes]
rs2923088	0.85[ASN][1000 genomes]
rs2923115	0.86[ASN][1000 genomes]
rs2923116	0.87[ASN][1000 genomes]
rs2923117	0.86[ASN][1000 genomes]
rs2923120	0.86[ASN][1000 genomes]
rs2923121	0.88[ASN][1000 genomes]
rs2923122	0.86[ASN][1000 genomes]
rs2923124	0.85[ASN][1000 genomes]
rs2923125	0.86[ASN][1000 genomes]
rs2957658	0.85[ASN][1000 genomes]
rs2957664	0.83[ASN][1000 genomes]
rs2957665	0.86[ASN][1000 genomes]
rs2957666	0.86[ASN][1000 genomes]
rs2957667	0.87[ASN][1000 genomes]
rs2957669	0.87[ASN][1000 genomes]
rs2957670	0.86[ASN][1000 genomes]
rs2957675	0.87[ASN][1000 genomes]
rs2957677	0.87[ASN][1000 genomes]
rs2957678	0.87[ASN][1000 genomes]
rs2957679	0.86[ASN][1000 genomes]
rs4910129	0.86[ASN][1000 genomes]
rs5015228	0.87[ASN][1000 genomes]
rs6416051	0.87[ASN][1000 genomes]
rs7112833	0.86[ASN][1000 genomes]
rs7117816	0.87[ASN][1000 genomes]
rs7117951	0.87[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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1037131	chr11:10401998-10429998	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv553477	chr11:10403539-10429998	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7934497	SYT9	cis	cerebellum	SCAN
rs7934497	SNORA23	cis	cerebellum	SCAN
rs7934497	OLFML1	cis	cerebellum	SCAN
rs7934497	RPL27A	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10407200-10412800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr11:10407200-10412800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:10407200-10412800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:10407200-10412800	Enhancers	Adipose Nuclei	Adipose
5	chr11:10407800-10412200	Enhancers	NHDF-Ad	bronchial
6	chr11:10408600-10413200	Enhancers	Placenta	Placenta
7	chr11:10409000-10412600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:10409200-10412800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:10409400-10412000	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:10409600-10412200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:10409600-10412800	Enhancers	Osteobl	bone
12	chr11:10409600-10413800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:10409600-10420000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:10409600-10420000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:10409800-10414000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:10410000-10412800	Enhancers	Stomach Smooth Muscle	stomach
17	chr11:10410000-10413800	Weak transcription	NH-A	brain
18	chr11:10410200-10412000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:10410200-10412000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:10410400-10412400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:10410400-10414400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:10410400-10415200	Weak transcription	Fetal Lung	lung
23	chr11:10410800-10412000	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:10411000-10412000	Weak transcription	NHLF	lung
25	chr11:10411000-10414000	Weak transcription	Ovary	ovary
26	chr11:10411000-10417000	Weak transcription	Lung	lung
27	chr11:10411200-10412800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr11:10411400-10412400	Enhancers	Fetal Stomach	stomach
29	chr11:10411400-10412600	Enhancers	Fetal Kidney	kidney
30	chr11:10411400-10412800	Enhancers	A549	lung
31	chr11:10411400-10416800	Weak transcription	Placenta Amnion	Placenta Amnion

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