Variant report

Variant	rs7937639
Chromosome Location	chr11:9587478-9587479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9586720..9588950-chr11:9633664..9636381,2	MCF-7	breast:
2	chr11:9571631..9575583-chr11:9586034..9589231,7	K562	blood:
3	chr11:9555259..9558705-chr11:9585485..9589925,6	MCF-7	breast:
4	chr11:9481046..9484761-chr11:9586134..9589089,3	K562	blood:
5	chr11:9571631..9575267-chr11:9586177..9589837,7	K562	blood:
6	chr11:9480505..9483830-chr11:9585814..9588292,3	MCF-7	breast:
7	chr11:9586513..9589428-chr11:9634913..9638092,4	K562	blood:
8	chr11:9482098..9486375-chr11:9587030..9591762,7	K562	blood:
9	chr11:9586141..9589428-chr11:9634451..9638092,8	K562	blood:
10	chr11:9554695..9557077-chr11:9586375..9588015,2	MCF-7	breast:
11	chr11:9568845..9571687-chr11:9584887..9588647,3	MCF-7	breast:
12	chr11:9555332..9556950-chr11:9587020..9589560,2	K562	blood:
13	chr11:9550967..9553187-chr11:9587161..9589570,2	K562	blood:
14	chr11:9548940..9552769-chr11:9586407..9589954,6	MCF-7	breast:
15	chr11:9586732..9588920-chr4:24377644..24379144,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction
ENSG00000268403	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10770039	0.91[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10840262	0.86[CHB][hapmap]
rs4910479	0.90[ASN][1000 genomes]
rs6486429	0.85[ASN][1000 genomes]
rs7939541	0.83[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs921678	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7937639	OR56A4	cis	cerebellum	SCAN
rs7937639	SNORA45	cis	cerebellum	SCAN
rs7937639	SYT9	cis	cerebellum	SCAN
rs7937639	DENND5A	cis	parietal	SCAN
rs7937639	DKK3	cis	cerebellum	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9573800-9587800	Weak transcription	Gastric	stomach
2	chr11:9579000-9590200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:9583000-9590200	Weak transcription	Primary T cells from cord blood	blood
4	chr11:9584200-9594400	Enhancers	Stomach Mucosa	stomach
5	chr11:9584200-9594400	Weak transcription	Spleen	Spleen
6	chr11:9585000-9589600	Weak transcription	Primary B cells from cord blood	blood
7	chr11:9585200-9590800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:9585200-9593600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:9585200-9594400	Weak transcription	Esophagus	oesophagus
10	chr11:9585200-9594400	Weak transcription	Lung	lung
11	chr11:9586000-9591600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:9586200-9587600	Enhancers	Fetal Heart	heart
13	chr11:9586200-9590400	Enhancers	Fetal Lung	lung
14	chr11:9586200-9590600	Enhancers	Hela-S3	cervix
15	chr11:9586200-9590600	Enhancers	NHLF	lung
16	chr11:9586400-9587600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:9586400-9587600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:9586400-9589800	Enhancers	HMEC	breast
19	chr11:9586400-9589800	Enhancers	Osteobl	bone
20	chr11:9586400-9590000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr11:9586400-9594200	Enhancers	Fetal Intestine Small	intestine
22	chr11:9586600-9587800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:9586600-9588000	Enhancers	Left Ventricle	heart
24	chr11:9586600-9588000	Enhancers	Pancreas	Pancrea
25	chr11:9586600-9588200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:9586600-9588200	Enhancers	Aorta	Aorta
27	chr11:9586600-9588200	Enhancers	Colonic Mucosa	Colon
28	chr11:9586600-9588200	Enhancers	Ovary	ovary
29	chr11:9586600-9588200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr11:9586600-9588200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr11:9586600-9588200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr11:9586600-9588400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:9586600-9588600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:9586600-9588600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:9586600-9588600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:9586600-9588600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:9586600-9589000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr11:9586600-9589000	Enhancers	Rectal Smooth Muscle	rectum
39	chr11:9586600-9589000	Enhancers	HUVEC	blood vessel
40	chr11:9586600-9589800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr11:9586600-9589800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:9586600-9590000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr11:9586600-9590200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:9586600-9590200	Enhancers	NHDF-Ad	bronchial
45	chr11:9586600-9590800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr11:9586600-9590800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:9586600-9591800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:9586600-9594000	Enhancers	Placenta	Placenta
49	chr11:9586600-9594200	Enhancers	Fetal Intestine Large	intestine
50	chr11:9586800-9587600	Enhancers	Duodenum Mucosa	Duodenum

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