Variant report

Variant	rs7114794
Chromosome Location	chr11:107993500-107993501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:107991854-107993546	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:107991946-107993506	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:107992008-107993693	MCF10A-Er-Src	breast:	n/a	n/a
4	MXI1	chr11:107991458-107993648	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr11:107991762-107993504	PBDE	blood:	n/a	n/a
6	KAP1	chr11:107991971-107993506	U2OS	brain:	n/a	n/a
7	POLR2A	chr11:107992046-107993648	K562	blood:	n/a	n/a
8	KAP1	chr11:107991967-107993510	HEK293	kidney:	n/a	n/a
9	RCOR1	chr11:107991685-107993557	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:107993467-107993517	IMR90	lung:	fetal
2	chr11:107993467-107993517	NB4	blood:	n/a
3	chr11:107993467-107993517	SAEC	small airway:	n/a
4	chr11:107993467-107993517	BJ	skin:	n/a
5	chr11:107993467-107993517	SKMC	muscle:	n/a
6	chr11:107993467-107993517	HRE	kidney:	n/a
7	chr11:107993467-107993517	SK-N-SH_RA	brain:	n/a
8	chr11:107993467-107993517	HCM	heart:	n/a
9	chr11:107993467-107993517	NHBE	bronchial:	n/a
10	chr11:107993467-107993517	U87	brain:	n/a
11	chr11:107993467-107993517	NT2-D1	testis:	n/a
12	chr11:107993467-107993517	CMK	blood:	n/a
13	chr11:107993467-107993517	PFSK-1	brain:	n/a
14	chr11:107993467-107993517	AG04449	skin:	fetal
15	chr11:107993467-107993517	MCF10A-Er-Src	breast:	n/a
16	chr11:107993467-107993517	AG09319	gingival:	n/a
17	chr11:107993467-107993517	ovcar-3	ovarian:	n/a
18	chr11:107993467-107993517	H1-hESC	embryonic stem cell:	embryo
19	chr11:107993467-107993517	Jurkat	blood:	n/a
20	chr11:107993467-107993517	A549	lung:	n/a
21	chr11:107993467-107993517	K562	blood:	n/a
22	chr11:107993467-107993517	MCF-7	breast:	n/a
23	chr11:107993467-107993517	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:107993467-107993517	NHDF-neo	bronchial:	n/a
25	chr11:107993467-107993517	SK-N-SH	brain:	n/a
26	chr11:107993467-107993517	PANC-1	pancreas:	n/a
27	chr11:107993467-107993517	RPTEC	kidney:	n/a
28	chr11:107993467-107993517	PrEC	prostate:	n/a
29	chr11:107993467-107993517	HUVEC	blood vessel:	n/a
30	chr11:107993467-107993517	HRCEpiC	kidney:	n/a
31	chr11:107993467-107993517	Hela-S3	cervix:	n/a
32	chr11:107993467-107993517	HRPEpiC	eye:	n/a
33	chr11:107993467-107993517	GM12891	blood:	n/a
34	chr11:107993467-107993517	GM19239	blood:	n/a
35	chr11:107993467-107993517	HEK293	kidney:	embryo
36	chr11:107993467-107993517	AoSMC	blood vessel:	n/a
37	chr11:107993467-107993517	GM06990	blood:	n/a
38	chr11:107993467-107993517	HEEpiC	esophagus:	n/a
39	chr11:107993467-107993517	ProgFib	skin:	n/a
40	chr11:107993467-107993517	BE2_C	brain:	n/a
41	chr11:107993467-107993517	ECC-1	luminal epithelium:	n/a
42	chr11:107993467-107993517	GM12892	blood:	n/a
43	chr11:107993467-107993517	NH-A	brain:	n/a
44	chr11:107993467-107993517	AG04450	lung:	fetal
45	chr11:107993467-107993517	HMEC	breast:	n/a
46	chr11:107993467-107993517	HCT-116	colon:	n/a
47	chr11:107993467-107993517	HepG2	liver:	n/a
48	chr11:107993467-107993517	SK-N-MC	brain:	n/a
49	chr11:107993467-107993517	AG10803	skin:	n/a
50	chr11:107993467-107993517	Caco-2	colon:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:107879008..107882104-chr11:107991227..107994837,4	K562	blood:
2	chr11:107878521..107880141-chr11:107993368..107996095,2	MCF-7	breast:
3	chr11:107992260..107994270-chr11:108463431..108465424,2	K562	blood:
4	chr11:107879008..107882817-chr11:107991227..107994837,4	K562	blood:
5	chr11:107992282..107994125-chr11:108092449..108094486,3	K562	blood:
6	chr11:107992936..107994517-chr11:108041386..108043018,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255467	TF binding region
ENSG00000255467	CpG island
ENSG00000110723	Chromatin interaction
ENSG00000166266	Chromatin interaction
ENSG00000149311	Chromatin interaction
ENSG00000149308	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10890813	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10890819	1.00[ASW][hapmap];0.94[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10890820	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11212515	0.94[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12226047	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12226342	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs228593	1.00[ASW][hapmap];0.89[CEU][hapmap];0.89[GIH][hapmap]
rs228606	0.90[JPT][hapmap]
rs3741056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4754297	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4987913	1.00[YRI][hapmap]
rs7928764	0.81[ASN][1000 genomes]
rs920679	1.00[ASW][hapmap];0.89[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]

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	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv3372573	chr11:107880365-108022895	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1039549	chr11:107950572-108034548	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1040522	chr11:107969357-108049672	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7114794	KDELC2	cis	Skin Sun Exposed Lower leg	GTEx
rs7114794	NPAT	cis	cerebellum	SCAN
rs7114794	ACAT1	cis	cerebellum	SCAN
rs7114794	PDGFD	cis	cerebellum	SCAN
rs7114794	ACAT1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107991800-107993600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:107991800-107994400	Active TSS	Right Atrium	heart
3	chr11:107991800-107995200	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr11:107992000-107993600	Active TSS	Left Ventricle	heart
5	chr11:107992000-107993800	Active TSS	Ovary	ovary
6	chr11:107992000-107993800	Active TSS	Right Ventricle	heart
7	chr11:107992000-107994000	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr11:107992000-107994200	Active TSS	Liver	Liver
9	chr11:107992200-107994000	Active TSS	Stomach Smooth Muscle	stomach
10	chr11:107992600-107993600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:107992800-107993600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:107992800-107993600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr11:107992800-107993600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:107992800-107993600	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr11:107992800-107993600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr11:107992800-107993600	Enhancers	Spleen	Spleen
17	chr11:107992800-107993600	Flanking Active TSS	Dnd41	blood
18	chr11:107992800-107993600	Flanking Active TSS	K562	blood
19	chr11:107992800-107993600	Flanking Active TSS	NHEK	skin
20	chr11:107992800-107993600	Flanking Active TSS	NHLF	lung
21	chr11:107992800-107993600	Flanking Active TSS	Osteobl	bone
22	chr11:107992800-107995200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:107993000-107993600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr11:107993000-107993600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:107993000-107993600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:107993000-107993600	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr11:107993000-107993600	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr11:107993000-107993600	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr11:107993000-107993600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr11:107993000-107993600	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr11:107993000-107993600	Flanking Active TSS	Colon Smooth Muscle	Colon
32	chr11:107993000-107993600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:107993000-107993600	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr11:107993000-107993600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr11:107993000-107993600	Flanking Active TSS	Hela-S3	cervix
36	chr11:107993000-107993600	Flanking Active TSS	HSMMtube	muscle
37	chr11:107993000-107993600	Flanking Active TSS	NH-A	brain
38	chr11:107993000-107993600	Flanking Active TSS	NHDF-Ad	bronchial
39	chr11:107993000-107993800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:107993000-107993800	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:107993000-107993800	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr11:107993000-107993800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr11:107993000-107994400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:107993000-107994800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:107993000-107995200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr11:107993000-107995400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr11:107993000-107995600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr11:107993000-107995600	Enhancers	Small Intestine	intestine
49	chr11:107993000-108002600	Weak transcription	Placenta	Placenta
50	chr11:107993200-107993600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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