Variant report

Variant	nsv555197
Chromosome Location	chr11:64364291-64376307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64364289..64366155-chr11:64368879..64370972,2	MCF-7	breast:
2	chr11:64375874..64378120-chr11:64381726..64383256,2	K562	blood:
3	chr11:64325204..64328636-chr11:64366449..64368317,3	K562	blood:
4	chr11:64325775..64328636-chr11:64366449..64368257,2	K562	blood:
5	chr11:64369755..64371518-chr11:65269435..65271940,2	K562	blood:
6	chr11:64364289..64366155-chr11:64368879..64370972,2	MCF-7	breast:
7	chr11:64372156..64374370-chr11:64385204..64388133,2	K562	blood:

Variant related genes	Relation type
ENSG00000251562	chromatin interactions

Extended variants
information (count: 514 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs475688	chr11:64364291-64364292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548137507	chr11:64364326-64364327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544179246	chr11:64364360-64364361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117364847	chr11:64364361-64364362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56265379	chr11:64364395-64364396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186458101	chr11:64364453-64364454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559875932	chr11:64364501-64364502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529070241	chr11:64364503-64364504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541932540	chr11:64364546-64364547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562192421	chr11:64364585-64364586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530944679	chr11:64364602-64364603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550944563	chr11:64364636-64364637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570860884	chr11:64364650-64364651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533624404	chr11:64364651-64364652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144705165	chr11:64364716-64364717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12365089	chr11:64364735-64364736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs536025562	chr11:64364758-64364759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148529645	chr11:64364781-64364782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189711818	chr11:64364827-64364828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559615	chr11:64364860-64364861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12363578	chr11:64364866-64364867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142884569	chr11:64364900-64364901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180889818	chr11:64364923-64364924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186119139	chr11:64364936-64364937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76945158	chr11:64364959-64364960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562314177	chr11:64364987-64364988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562584089	chr11:64365001-64365002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571399286	chr11:64365009-64365010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575691241	chr11:64365070-64365071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2022049	chr11:64365071-64365072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564436857	chr11:64365072-64365073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35712800	chr11:64365099-64365100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533383517	chr11:64365100-64365101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572382128	chr11:64365110-64365111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547042647	chr11:64365117-64365118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560751877	chr11:64365164-64365165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550475425	chr11:64365165-64365166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2022048	chr11:64365167-64365168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs569353891	chr11:64365185-64365186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537907251	chr11:64365194-64365195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373058278	chr11:64365251-64365252	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113936851	chr11:64365252-64365253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78160447	chr11:64365256-64365257	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570882120	chr11:64365257-64365258	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533526652	chr11:64365263-64365264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553388963	chr11:64365272-64365273	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114234600	chr11:64365298-64365299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536202799	chr11:64365302-64365303	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556282083	chr11:64365332-64365333	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34805213	chr11:64365334-64365335	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64364200-64366000	Weak transcription	Spleen	Spleen
2	chr11:64365200-64365800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:64365800-64366000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:64366000-64366200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:64366000-64366800	Enhancers	Spleen	Spleen
6	chr11:64366200-64366400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:64366200-64366400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:64366200-64366600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:64366400-64366600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:64366400-64367000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:64366400-64367000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr11:64366400-64367200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:64366400-64367400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:64366400-64367600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:64366400-64367600	Enhancers	Brain Germinal Matrix	brain
16	chr11:64366600-64366800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:64366600-64366800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr11:64366600-64366800	Bivalent Enhancer	Fetal Stomach	stomach
19	chr11:64366600-64367000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:64366600-64367000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr11:64366600-64367000	Enhancers	Ovary	ovary
22	chr11:64367000-64367800	Enhancers	Fetal Muscle Trunk	muscle
23	chr11:64367200-64367400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:64367400-64368000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:64367400-64370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:64367600-64368400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:64367600-64372200	Weak transcription	Brain Germinal Matrix	brain
28	chr11:64368200-64369600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:64368200-64375200	Weak transcription	Right Atrium	heart
30	chr11:64368400-64368600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:64368600-64369000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:64368600-64369200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:64368600-64369200	Enhancers	Fetal Intestine Large	intestine
34	chr11:64368800-64369000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:64368800-64369400	Bivalent Enhancer	HepG2	liver
36	chr11:64369000-64369600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:64369000-64372400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:64369200-64370200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:64369200-64370400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:64369600-64370000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:64370000-64370800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:64370200-64371000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr11:64370200-64371800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:64370400-64370600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr11:64370400-64370600	Bivalent Enhancer	HepG2	liver
46	chr11:64370400-64370800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:64370400-64371000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:64370800-64372800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:64370800-64376000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:64371000-64372600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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