Variant report

Variant	nsv512232
Chromosome Location	chr11:63696218-63701725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
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	CTCF	chr11:63700787-63700894	GM13976	blood:	n/a	n/a
2	CTCF	chr11:63700141-63700190	GM10266	blood:	n/a	n/a
3	CTCF	chr11:63697520-63697670	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr11:63698460-63698610	NHDF-neo	bronchial:	n/a	n/a
5	MAX	chr11:63699539-63699661	NB4	blood:	n/a	chr11:63699553-63699563
6	MYC	chr11:63701314-63701373	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:63700246-63700415	Hela-S3	cervix:	n/a	n/a
8	RCOR1	chr11:63698630-63698701	HepG2	liver:	n/a	n/a
9	ZNF263	chr11:63699426-63699881	HEK293-T-REx	kidney:	n/a	chr11:63699701-63699710 chr11:63699679-63699688 chr11:63699680-63699701

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63604437..63605387-chr11:63701185..63702224,4	MCF-7	breast:
2	chr11:63685870..63687759-chr11:63698939..63701005,2	MCF-7	breast:
3	chr11:63697160..63699564-chr11:63703957..63705699,2	MCF-7	breast:
4	chr11:63684393..63687142-chr11:63694505..63697454,4	MCF-7	breast:
5	chr11:63696953..63698499-chr11:63742043..63744021,2	K562	blood:
6	chr11:63687502..63689214-chr11:63695496..63697632,2	MCF-7	breast:
7	chr11:63684384..63686159-chr11:63693977..63696781,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RCOR2-2	chr11:63700871-63701043	l_489_chr11:63700870-63707041_76bGuttman_hES

No data

Variant related genes	Relation type
NAA40	TF binding region
ENSG00000256100	chromatin interactions
ENSG00000176340	chromatin interactions

Extended variants
information (count: 213 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369353972	chr11:63696247-63696248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568168099	chr11:63696279-63696280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537195800	chr11:63696300-63696301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546608370	chr11:63696342-63696343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570618964	chr11:63696370-63696371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373424013	chr11:63696390-63696391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376448703	chr11:63696404-63696405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539757288	chr11:63696425-63696426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566359990	chr11:63696445-63696446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558660255	chr11:63696450-63696451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12794404	chr11:63696465-63696466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534784543	chr11:63696475-63696476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558492431	chr11:63696511-63696512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142746760	chr11:63696521-63696522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372506820	chr11:63696567-63696568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386373979	chr11:63696592-63696593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528030190	chr11:63696602-63696603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578185407	chr11:63696605-63696606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71039688	chr11:63696613-63696614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71468646	chr11:63696617-63696618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537680222	chr11:63696627-63696628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12793201	chr11:63696631-63696632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs149979169	chr11:63696686-63696687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370921521	chr11:63696697-63696698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187723161	chr11:63696698-63696699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34115534	chr11:63696709-63696710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577444534	chr11:63696710-63696711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35224280	chr11:63696711-63696712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546520680	chr11:63696715-63696716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376753698	chr11:63696750-63696751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559074592	chr11:63696762-63696763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35234669	chr11:63696768-63696769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566889565	chr11:63696769-63696770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12577408	chr11:63696813-63696814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374327059	chr11:63696824-63696825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528046383	chr11:63696834-63696835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551543496	chr11:63696842-63696843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561739448	chr11:63696851-63696852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139456126	chr11:63696929-63696930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550778766	chr11:63696954-63696955	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs12786859	chr11:63696974-63696975	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs192634911	chr11:63696986-63696987	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs368276758	chr11:63697048-63697049	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs182798795	chr11:63697074-63697075	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs112466722	chr11:63697157-63697158	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs566663715	chr11:63697198-63697199	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs192582225	chr11:63697216-63697217	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs554568337	chr11:63697262-63697263	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs574560048	chr11:63697268-63697269	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs537184313	chr11:63697271-63697272	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63691200-63698600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:63697000-63705600	Weak transcription	Right Atrium	heart
3	chr11:63697400-63698600	Weak transcription	Esophagus	oesophagus
4	chr11:63698400-63698600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:63698400-63699000	Enhancers	Fetal Stomach	stomach
6	chr11:63698400-63699200	Enhancers	Fetal Lung	lung
7	chr11:63698400-63699800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:63698400-63699800	Enhancers	Fetal Muscle Trunk	muscle
9	chr11:63698400-63699800	Enhancers	Fetal Muscle Leg	muscle
10	chr11:63698600-63698800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:63698600-63698800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:63698600-63698800	Enhancers	Brain Cingulate Gyrus	brain
13	chr11:63698600-63698800	Enhancers	Esophagus	oesophagus
14	chr11:63698600-63699000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:63698600-63699400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:63698600-63700000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:63698600-63700200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:63698800-63705600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:63698800-63705600	Weak transcription	Esophagus	oesophagus
20	chr11:63699000-63699400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:63699000-63700000	Enhancers	Placenta	Placenta
22	chr11:63699000-63701000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:63699000-63705600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:63699200-63699600	Weak transcription	Fetal Lung	lung
25	chr11:63699200-63700000	Enhancers	Fetal Brain Male	brain
26	chr11:63699400-63699600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:63699400-63699600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:63699400-63699600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:63699400-63699600	Enhancers	Stomach Smooth Muscle	stomach
30	chr11:63699400-63699800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr11:63699400-63699800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:63699600-63699800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:63699600-63699800	Enhancers	Fetal Lung	lung
34	chr11:63699600-63701200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:63699600-63705400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:63699600-63705600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:63699800-63700800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:63699800-63702800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:63699800-63705200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:63699800-63705600	Weak transcription	Fetal Lung	lung
41	chr11:63699800-63705600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr11:63700000-63701000	Weak transcription	Placenta	Placenta
43	chr11:63700000-63705400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:63700200-63700400	Weak transcription	Fetal Brain Male	brain
45	chr11:63700200-63700600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:63700600-63702800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr11:63700800-63701200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:63700800-63702400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:63700800-63702400	Enhancers	Osteobl	bone
50	chr11:63701000-63701200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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