Variant report

Variant	rs60719227
Chromosome Location	chr11:9075940-9075941
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:9075898-9075948	Caco-2	colon:	n/a
2	chr11:9075898-9075948	HNPCEpiC	eye:	n/a
3	chr11:9075898-9075948	GM12878	blood:	n/a
4	chr11:9075898-9075948	HepG2	liver:	n/a
5	chr11:9075898-9075948	NHBE	bronchial:	n/a
6	chr11:9075898-9075948	SK-N-MC	brain:	n/a
7	chr11:9075898-9075948	HCF	heart:	n/a
8	chr11:9075898-9075948	PrEC	prostate:	n/a
9	chr11:9075898-9075948	NT2-D1	testis:	n/a
10	chr11:9075898-9075948	HCPEpiC	choroid plexus:	n/a
11	chr11:9075898-9075948	AoSMC	blood vessel:	n/a
12	chr11:9075898-9075948	MCF-7	breast:	n/a
13	chr11:9075898-9075948	NB4	blood:	n/a
14	chr11:9075898-9075948	SK-N-SH	brain:	n/a
15	chr11:9075898-9075948	ProgFib	skin:	n/a
16	chr11:9075898-9075948	MCF10A-Er-Src	breast:	n/a
17	chr11:9075898-9075948	SAEC	small airway:	n/a
18	chr11:9075898-9075948	A549	lung:	n/a
19	chr11:9075898-9075948	U87	brain:	n/a
20	chr11:9075898-9075948	RPTEC	kidney:	n/a
21	chr11:9075898-9075948	NHDF-neo	bronchial:	n/a
22	chr11:9075898-9075948	AG04449	skin:	fetal
23	chr11:9075898-9075948	GM19239	blood:	n/a
24	chr11:9075898-9075948	GM06990	blood:	n/a
25	chr11:9075898-9075948	Jurkat	blood:	n/a
26	chr11:9075898-9075948	AG10803	skin:	n/a
27	chr11:9075898-9075948	HCM	heart:	n/a
28	chr11:9075898-9075948	H1-hESC	embryonic stem cell:	embryo
29	chr11:9075898-9075948	HMEC	breast:	n/a
30	chr11:9075898-9075948	PFSK-1	brain:	n/a
31	chr11:9075898-9075948	Hepatocyte	liver:	n/a
32	chr11:9075898-9075948	HIPEpiC	eye:	n/a
33	chr11:9075898-9075948	IMR90	lung:	fetal
34	chr11:9075898-9075948	K562	blood:	n/a
35	chr11:9075898-9075948	AG09319	gingival:	n/a
36	chr11:9075898-9075948	HL-60	blood:	n/a
37	chr11:9075898-9075948	SK-N-SH_RA	brain:	n/a
38	chr11:9075898-9075948	BE2_C	brain:	n/a
39	chr11:9075898-9075948	HEK293	kidney:	embryo
40	chr11:9075898-9075948	PANC-1	pancreas:	n/a
41	chr11:9075898-9075948	ovcar-3	ovarian:	n/a
42	chr11:9075898-9075948	ECC-1	luminal epithelium:	n/a
43	chr11:9075898-9075948	CMK	blood:	n/a
44	chr11:9075898-9075948	BJ	skin:	n/a
45	chr11:9075898-9075948	AG09309	skin:	n/a
46	chr11:9075898-9075948	HCT-116	colon:	n/a
47	chr11:9075898-9075948	HRCEpiC	kidney:	n/a
48	chr11:9075898-9075948	HAEpiC	amniotic membrane:	n/a
49	chr11:9075898-9075948	Hela-S3	cervix:	n/a
50	chr11:9075898-9075948	HPAEpiC	pulmonary alveolar:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9023989..9026905-chr11:9075078..9077579,2	K562	blood:
2	chr11:9011525..9013427-chr11:9074733..9076584,2	K562	blood:
3	chr11:9075149..9076918-chr11:9084166..9086058,2	K562	blood:
4	chr11:9075127..9077709-chr11:9146787..9148861,2	MCF-7	breast:

No data

Variant related genes	Relation type
SCUBE2	CpG island
ENSG00000253973	CpG island
ENSG00000253973	Chromatin interaction
ENSG00000175352	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11042113	1.00[EUR][1000 genomes]
rs2116513	1.00[EUR][1000 genomes]
rs4061641	1.00[EUR][1000 genomes]
rs56947653	1.00[EUR][1000 genomes]
rs58094352	1.00[EUR][1000 genomes]
rs58735631	1.00[EUR][1000 genomes]
rs60631733	1.00[EUR][1000 genomes]
rs7108310	1.00[EUR][1000 genomes]
rs73410050	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv896984	chr11:8988550-9090408	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	nsv467704	chr11:9059192-9125301	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv553454	chr11:9059192-9125301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9058400-9099800	Weak transcription	Aorta	Aorta
2	chr11:9066000-9081800	Weak transcription	Small Intestine	intestine
3	chr11:9069000-9080400	Weak transcription	Fetal Intestine Large	intestine
4	chr11:9069000-9092400	Weak transcription	Fetal Intestine Small	intestine
5	chr11:9069200-9083800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:9070200-9078600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:9070200-9087400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:9070200-9097200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:9070400-9077600	Weak transcription	Adipose Nuclei	Adipose
10	chr11:9070400-9078000	Weak transcription	Gastric	stomach
11	chr11:9070400-9098400	Weak transcription	Colonic Mucosa	Colon
12	chr11:9070600-9077400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:9070600-9087800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:9070600-9091600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:9071200-9076800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:9071200-9077800	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:9071200-9087200	Weak transcription	Fetal Brain Male	brain
18	chr11:9072200-9076800	Weak transcription	Fetal Lung	lung
19	chr11:9073800-9076200	Enhancers	HSMMtube	muscle
20	chr11:9074000-9076200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:9074000-9076200	Enhancers	HSMM	muscle
22	chr11:9074400-9076200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:9074800-9080600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:9075000-9076000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr11:9075000-9081200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:9075000-9088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:9075000-9092600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:9075200-9087200	Weak transcription	Pancreas	Pancrea
29	chr11:9075600-9076200	Strong transcription	Fetal Muscle Leg	muscle
30	chr11:9075600-9076800	Weak transcription	Fetal Stomach	stomach
31	chr11:9075600-9077200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr11:9075600-9078200	Weak transcription	NHDF-Ad	bronchial
33	chr11:9075800-9076000	Enhancers	Placenta	Placenta
34	chr11:9075800-9077200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:9075800-9078200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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