Variant report

Variant	nsv820249
Chromosome Location	chr6:56470837-56472006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56469766..56471314-chr6:56477841..56479508,2	MCF-7	breast:
2	chr6:56465447..56467405-chr6:56469349..56471990,2	MCF-7	breast:
3	chr6:56469736..56472116-chr6:56473796..56475324,2	MCF-7	breast:
4	chr6:56464553..56466952-chr6:56469222..56471761,3	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138612284	chr6:56470848-56470849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7452899	chr6:56470882-56470883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367997851	chr6:56470883-56470884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73746922	chr6:56470892-56470893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531880618	chr6:56470916-56470917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377329549	chr6:56470922-56470923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376054457	chr6:56470933-56470934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539082090	chr6:56470935-56470936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200135276	chr6:56470955-56470956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557762267	chr6:56470973-56470974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368370438	chr6:56470976-56470977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371923734	chr6:56471007-56471008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553357996	chr6:56471010-56471011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375421365	chr6:56471012-56471013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368888096	chr6:56471030-56471031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373050885	chr6:56471032-56471033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9382657	chr6:56471070-56471071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372969344	chr6:56471082-56471083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144013177	chr6:56471085-56471086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs45617936	chr6:56471086-56471087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375070693	chr6:56471090-56471091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs45509696	chr6:56471103-56471104	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs368146976	chr6:56471134-56471135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577942735	chr6:56471155-56471156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145940323	chr6:56471180-56471181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187333640	chr6:56471192-56471193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374296980	chr6:56471195-56471196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377482767	chr6:56471215-56471216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572438579	chr6:56471251-56471252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371231604	chr6:56471256-56471257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543155243	chr6:56471288-56471289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374237949	chr6:56471318-56471319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376284784	chr6:56471328-56471329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370339634	chr6:56471338-56471339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191739242	chr6:56471342-56471343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374059299	chr6:56471372-56471373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9382658	chr6:56471402-56471403	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs267601088	chr6:56471423-56471424	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532874406	chr6:56471443-56471444	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551077780	chr6:56471472-56471473	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371944799	chr6:56471473-56471474	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533603118	chr6:56471487-56471488	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374401982	chr6:56471502-56471503	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548964087	chr6:56471503-56471504	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368839824	chr6:56471528-56471529	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115261590	chr6:56471529-56471530	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538061634	chr6:56471577-56471578	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375815796	chr6:56471610-56471611	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs45442999	chr6:56471615-56471616	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs371966412	chr6:56471629-56471630	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Schizophrenia	23813976	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56408200-56496000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:56417000-56516400	Weak transcription	Pancreas	Pancrea
3	chr6:56417200-56481400	Weak transcription	Esophagus	oesophagus
4	chr6:56432800-56513600	Weak transcription	Small Intestine	intestine
5	chr6:56441000-56524800	Weak transcription	Colonic Mucosa	Colon
6	chr6:56451800-56514200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:56452200-56514600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:56452800-56476000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:56452800-56489400	Strong transcription	Liver	Liver
10	chr6:56453000-56492000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:56453000-56502200	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr6:56453000-56506800	Strong transcription	HSMM	muscle
13	chr6:56453400-56476200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:56455400-56476000	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:56455400-56486200	Strong transcription	HSMMtube	muscle
16	chr6:56457200-56473200	Weak transcription	Aorta	Aorta
17	chr6:56457200-56478200	Weak transcription	Fetal Heart	heart
18	chr6:56457200-56501200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:56458800-56488200	Weak transcription	HepG2	liver
20	chr6:56459000-56496200	Weak transcription	Fetal Kidney	kidney
21	chr6:56459000-56502400	Strong transcription	Osteobl	bone
22	chr6:56459000-56521000	Weak transcription	Spleen	Spleen
23	chr6:56459200-56473000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:56459800-56479200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:56460000-56471600	Weak transcription	Ovary	ovary
26	chr6:56460600-56496000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr6:56460600-56513600	Weak transcription	Stomach Mucosa	stomach
28	chr6:56460800-56476800	Strong transcription	NHDF-Ad	bronchial
29	chr6:56460800-56489000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr6:56462000-56471200	Weak transcription	Right Ventricle	heart
31	chr6:56462000-56472600	Weak transcription	Fetal Intestine Small	intestine
32	chr6:56462000-56473200	Weak transcription	Fetal Stomach	stomach
33	chr6:56462000-56476600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:56462200-56473400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:56462800-56471400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:56463000-56473200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:56465000-56473200	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:56465800-56471000	Weak transcription	Fetal Brain Male	brain
39	chr6:56466000-56472600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:56466200-56473800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:56466400-56472600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr6:56466400-56473200	Weak transcription	Fetal Brain Female	brain
43	chr6:56466400-56473400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:56466600-56472600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:56466600-56472600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:56466600-56473000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:56466600-56473400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr6:56466600-56480800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:56467200-56471800	Weak transcription	A549	lung
50	chr6:56467200-56472000	Weak transcription	Colon Smooth Muscle	Colon

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