Variant report

Variant	nsv8776
Chromosome Location	chr11:3669146-3676420
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3667429..3669628-chr11:3844274..3846106,2	K562	blood:

Variant related genes	Relation type
ENSG00000148985	chromatin interactions

Extended variants
information (count: 593 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372942052	chr11:3669146-3669147	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs569430068	chr11:3669160-3669161	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568214617	chr11:3669177-3669178	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145518142	chr11:3669195-3669196	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375798498	chr11:3669196-3669197	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372754435	chr11:3669231-3669232	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550637820	chr11:3669238-3669239	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs147751181	chr11:3669248-3669249	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141074373	chr11:3669282-3669283	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs111595545	chr11:3669285-3669286	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369266098	chr11:3669295-3669296	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376962190	chr11:3669328-3669329	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572296206	chr11:3669345-3669346	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377068825	chr11:3669346-3669347	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145731293	chr11:3669349-3669350	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555559748	chr11:3669351-3669352	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546894585	chr11:3669366-3669367	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566784760	chr11:3669380-3669381	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375388647	chr11:3669391-3669392	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544332020	chr11:3669393-3669394	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556215963	chr11:3669403-3669404	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs578004855	chr11:3669464-3669465	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370650938	chr11:3669472-3669473	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545063912	chr11:3669483-3669484	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11028762	chr11:3669491-3669492	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560456407	chr11:3669499-3669500	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528379116	chr11:3669506-3669507	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs10767404	chr11:3669515-3669516	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561881690	chr11:3669523-3669524	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535668711	chr11:3669525-3669526	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs145725702	chr11:3669528-3669529	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs138282713	chr11:3669529-3669530	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532988098	chr11:3669530-3669531	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs61878502	chr11:3669533-3669534	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs144724788	chr11:3669547-3669548	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs111418462	chr11:3669558-3669559	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148275285	chr11:3669559-3669560	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112942573	chr11:3669565-3669566	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs538045475	chr11:3669575-3669576	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540590799	chr11:3669576-3669577	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs556658320	chr11:3669598-3669599	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs386749920	chr11:3669609-3669610	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368569210	chr11:3669620-3669621	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559699592	chr11:3669628-3669629	ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs539077234	chr11:3669655-3669656	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs553900867	chr11:3669662-3669663	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs181661507	chr11:3669682-3669683	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs185998200	chr11:3669696-3669697	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs191163803	chr11:3669703-3669704	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs561943988	chr11:3669705-3669706	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3664600-3671000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:3666800-3670000	Weak transcription	K562	blood
3	chr11:3668000-3669200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr11:3668000-3669600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:3669000-3669200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr11:3669000-3669800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr11:3669000-3670200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:3669200-3680200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:3669200-3681400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:3669600-3669800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr11:3669800-3670400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:3670000-3671000	Active TSS	K562	blood
13	chr11:3670200-3671600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:3670400-3670600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:3670400-3671000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr11:3670600-3671000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr11:3671000-3671200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:3671000-3674600	Weak transcription	K562	blood
19	chr11:3671000-3686800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:3673000-3687200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:3674600-3675000	Enhancers	K562	blood
22	chr11:3675200-3675400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:3676400-3676600	Enhancers	Right Ventricle	heart

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