Variant report

Variant	rs2786800
Chromosome Location	chr11:32916005-32916006
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	chr11:32915549..32916317-chr11:61583965..61584543,2	Hela-S3	cervix:
2	chr11:32915546..32916189-chr5:98264465..98265204,2	Hela-S3	cervix:
3	chr11:32915892..32917470-chr11:32980726..32982282,2	K562	blood:
4	chr11:32915392..32916319-chr3:40498303..40499288,2	Hela-S3	cervix:
5	chr11:32911083..32916400-chr11:33180278..33184105,5	K562	blood:
6	chr11:32914351..32916676-chr11:33059902..33062238,2	K562	blood:
7	chr11:32912801..32916780-chr11:33060030..33062962,4	MCF-7	breast:
8	chr11:32913171..32916144-chr11:33182605..33184521,3	K562	blood:
9	chr11:32849868..32852880-chr11:32911360..32916794,6	MCF-7	breast:
10	chr11:32455369..32457971-chr11:32914210..32916339,2	K562	blood:
11	chr11:32912677..32916677-chr11:32946348..32949783,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000247151	Chromatin interaction
ENSG00000134824	Chromatin interaction
ENSG00000176148	Chromatin interaction
ENSG00000248489	Chromatin interaction
ENSG00000060749	Chromatin interaction
ENSG00000135378	Chromatin interaction
ENSG00000149485	Chromatin interaction
ENSG00000176102	Chromatin interaction
ENSG00000184937	Chromatin interaction
ENSG00000183242	Chromatin interaction
ENSG00000188846	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10454479	1.00[JPT][hapmap]
rs10767973	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10767977	1.00[ASN][1000 genomes]
rs10835991	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835996	1.00[ASN][1000 genomes]
rs10835997	1.00[ASN][1000 genomes]
rs11031939	1.00[JPT][hapmap]
rs11031949	1.00[JPT][hapmap]
rs11031951	1.00[JPT][hapmap]
rs11031952	1.00[JPT][hapmap]
rs11031978	1.00[JPT][hapmap]
rs11032017	1.00[JPT][hapmap]
rs11032058	1.00[ASN][1000 genomes]
rs11032060	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11032072	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11032073	1.00[ASN][1000 genomes]
rs11032074	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032076	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12224002	1.00[ASN][1000 genomes]
rs1396994	1.00[JPT][hapmap]
rs174747	1.00[JPT][hapmap]
rs1961248	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1961543	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs197703	1.00[JPT][hapmap]
rs197706	1.00[JPT][hapmap]
rs2092657	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2249555	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2419772	1.00[JPT][hapmap]
rs2419773	1.00[JPT][hapmap]
rs2419783	1.00[ASN][1000 genomes]
rs2664693	1.00[JPT][hapmap]
rs2746036	0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs2746037	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2786802	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4755476	1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4756355	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756373	0.94[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756385	0.94[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589450	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602126	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484610	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652963	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104368	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108574	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109890	1.00[ASN][1000 genomes]
rs7118330	1.00[ASN][1000 genomes]
rs7128509	0.94[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73474587	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7395190	0.89[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7481844	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7481878	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761284	1.00[JPT][hapmap]
rs761285	1.00[JPT][hapmap]
rs7941237	1.00[ASN][1000 genomes]
rs7944318	1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7950261	1.00[JPT][hapmap]
rs9919531	1.00[ASN][1000 genomes]
rs9943506	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2757434	chr11:32792784-32958609	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv34742	chr11:32796092-33004024	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv897190	chr11:32801921-32951836	Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	esv3442158	chr11:32913401-32916249	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2786800	QSER1	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32912200-32916400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr11:32912600-32917000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr11:32912600-32917000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:32912800-32916200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:32912800-32916600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:32912800-32917200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:32912800-32917200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr11:32913000-32916200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:32913000-32916200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:32913000-32916200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr11:32913000-32916400	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:32913000-32916800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:32913000-32916800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:32913000-32917000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:32913000-32917200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:32913200-32916200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:32913200-32916400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:32913200-32916400	Active TSS	NHDF-Ad	bronchial
19	chr11:32913400-32916200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:32913400-32916200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:32913400-32916200	Active TSS	Fetal Muscle Trunk	muscle
22	chr11:32913400-32916200	Active TSS	Fetal Stomach	stomach
23	chr11:32913400-32916200	Active TSS	Right Ventricle	heart
24	chr11:32913400-32916400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:32913400-32916400	Active TSS	Psoas Muscle	Psoas
26	chr11:32913400-32916400	Active TSS	NHLF	lung
27	chr11:32913400-32916600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr11:32913400-32916600	Active TSS	HSMMtube	muscle
29	chr11:32913400-32916800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:32913400-32917400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:32913600-32916200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:32913600-32916200	Active TSS	Colonic Mucosa	Colon
33	chr11:32913600-32916200	Active TSS	Colon Smooth Muscle	Colon
34	chr11:32913600-32916200	Active TSS	Duodenum Mucosa	Duodenum
35	chr11:32913600-32916200	Active TSS	Fetal Intestine Small	intestine
36	chr11:32913600-32916200	Active TSS	Ovary	ovary
37	chr11:32913600-32916200	Active TSS	A549	lung
38	chr11:32913600-32916400	Active TSS	Fetal Intestine Large	intestine
39	chr11:32913600-32916400	Active TSS	HSMM	muscle
40	chr11:32913600-32916600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:32913600-32916600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:32913600-32916800	Active TSS	K562	blood
43	chr11:32913800-32916200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:32913800-32916200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr11:32913800-32916200	Active TSS	Osteobl	bone
46	chr11:32913800-32916400	Active TSS	Stomach Smooth Muscle	stomach
47	chr11:32913800-32916600	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr11:32913800-32916600	Active TSS	GM12878-XiMat	blood
49	chr11:32913800-32916800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:32913800-32917200	Active TSS	Brain Germinal Matrix	brain

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