Variant report

Variant	rs1785631
Chromosome Location	chr11:66092730-66092731
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66092468..66094191-chr11:66107437..66109172,2	K562	blood:
2	chr11:66091883..66093491-chr11:66094338..66095923,2	MCF-7	breast:
3	chr11:66083687..66088090-chr11:66090957..66094133,5	K562	blood:
4	chr11:66079702..66081226-chr11:66092137..66094285,2	MCF-7	breast:
5	chr11:66054004..66059089-chr11:66088488..66094920,9	MCF-7	breast:
6	chr11:66052087..66053610-chr11:66091121..66094110,2	MCF-7	breast:
7	chr11:66076960..66082217-chr11:66092441..66098354,9	K562	blood:
8	chr11:66044842..66048035-chr11:66092705..66097892,5	K562	blood:
9	chr11:66055159..66056762-chr11:66090994..66093285,2	K562	blood:
10	chr11:66089326..66092230-chr11:66092519..66097068,6	K562	blood:
11	chr11:66092528..66094950-chr11:66110471..66113392,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000174807	Chromatin interaction
ENSG00000245156	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000174871	Chromatin interaction
ENSG00000254452	Chromatin interaction
ENSG00000254458	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2276106	0.90[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs4930355	0.95[CEU][hapmap];0.86[GIH][hapmap]
rs66733929	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	esv3339891	chr11:66088976-66093674	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1785631	B3GAT3	cis	cerebellum	SCAN
rs1785631	SCGB1D4	cis	cerebellum	SCAN
rs1785631	TMEM179B	cis	cerebellum	SCAN
rs1785631	GNG3	cis	cerebellum	SCAN
rs1785631	FRMD8	cis	cerebellum	SCAN
rs1785631	EEF1G	cis	cerebellum	SCAN
rs1785631	AIP	cis	cerebellum	SCAN
rs1785631	BAD	cis	parietal	SCAN
rs1785631	EHBP1L1	cis	cerebellum	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66084600-66103200	Weak transcription	Small Intestine	intestine
2	chr11:66086200-66095400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:66086600-66093600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr11:66086600-66095000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:66086800-66093200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:66086800-66093600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:66086800-66093600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:66087200-66093400	Weak transcription	Fetal Intestine Small	intestine
9	chr11:66089000-66093400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr11:66089000-66094800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:66089000-66094800	Enhancers	NHDF-Ad	bronchial
12	chr11:66089000-66095000	Enhancers	Adipose Nuclei	Adipose
13	chr11:66089200-66094200	Enhancers	Osteobl	bone
14	chr11:66089200-66097600	Enhancers	NHLF	lung
15	chr11:66089600-66093000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:66089600-66093600	Weak transcription	Psoas Muscle	Psoas
17	chr11:66089600-66093600	Weak transcription	Right Atrium	heart
18	chr11:66090000-66093600	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:66090200-66092800	Weak transcription	Primary T cells from cord blood	blood
20	chr11:66090600-66094800	Weak transcription	K562	blood
21	chr11:66090600-66095000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:66090600-66096000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:66091200-66092800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:66091400-66096600	Enhancers	Placenta	Placenta
25	chr11:66091600-66093000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:66091600-66095200	Enhancers	Spleen	Spleen
27	chr11:66091600-66096000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:66091600-66096600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr11:66091800-66093600	Enhancers	Fetal Thymus	thymus
30	chr11:66091800-66094200	Enhancers	HSMM	muscle
31	chr11:66091800-66094800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:66091800-66094800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr11:66091800-66094800	Enhancers	HSMMtube	muscle
34	chr11:66091800-66095000	Enhancers	Fetal Lung	lung
35	chr11:66091800-66095200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:66091800-66095800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:66091800-66096000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr11:66091800-66096000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr11:66091800-66096000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:66091800-66096400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:66091800-66096600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:66091800-66096600	Enhancers	Fetal Muscle Trunk	muscle
43	chr11:66091800-66096600	Enhancers	Fetal Stomach	stomach
44	chr11:66091800-66096600	Enhancers	NH-A	brain
45	chr11:66091800-66097800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:66092000-66093200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr11:66092000-66093200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:66092000-66093600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr11:66092000-66093800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:66092000-66096000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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