Variant report

Variant	nsv8535
Chromosome Location	chr1:173863986-173866800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173863102..173865571-chr1:173866179..173868704,2	MCF-7	breast:
2	chr1:173831191..173840458-chr1:173852193..173864862,18	MCF-7	breast:
3	chr1:173863088..173867176-chr1:173869417..173872260,5	MCF-7	breast:
4	chr1:173835476..173839323-chr1:173860987..173865628,6	K562	blood:
5	chr1:173865468..173869830-chr1:173871500..173875883,4	MCF-7	breast:
6	chr1:173862229..173864834-chr1:173882174..173883683,2	K562	blood:
7	chr1:173856030..173858273-chr1:173864244..173866649,2	K562	blood:
8	chr1:173854070..173860394-chr1:173860539..173867294,11	MCF-7	breast:
9	chr1:173865064..173869391-chr1:173883979..173888192,4	MCF-7	breast:
10	chr1:173863102..173865571-chr1:173866179..173868704,2	MCF-7	breast:
11	chr1:173859716..173863027-chr1:173865455..173870785,5	K562	blood:
12	chr1:173834928..173838432-chr1:173865557..173868884,4	MCF-7	breast:
13	chr1:173866393..173868614-chr1:173873170..173875933,2	K562	blood:
14	chr1:173853219..173856006-chr1:173864250..173866339,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB37-3	chr1:173865073-173866531	NONHSAT007706

No data

Variant related genes	Relation type
ENSG00000185278	chromatin interactions
ENSG00000270084	chromatin interactions
ENSG00000208317	chromatin interactions
ENSG00000234741	chromatin interactions
ENSG00000117601	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111785310	chr1:173864006-173864007	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs527324160	chr1:173864033-173864034	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs34244672	chr1:173864067-173864068	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs554190725	chr1:173864072-173864073	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs541125022	chr1:173864184-173864185	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs560971166	chr1:173864192-173864193	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs75018862	chr1:173864198-173864199	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs148907319	chr1:173864207-173864208	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs555959587	chr1:173864222-173864223	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs182344849	chr1:173864289-173864290	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs555971228	chr1:173864296-173864297	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs143595382	chr1:173864301-173864302	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs9425432	chr1:173864306-173864307	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565929009	chr1:173864334-173864335	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs534699227	chr1:173864369-173864370	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs374639887	chr1:173864386-173864387	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs187719824	chr1:173864393-173864394	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs568229420	chr1:173864406-173864407	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs2181309	chr1:173864541-173864542	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs143626377	chr1:173864571-173864572	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs370842560	chr1:173864639-173864640	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs557251703	chr1:173864671-173864672	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs577402083	chr1:173864723-173864724	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs546170986	chr1:173864772-173864773	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs193100244	chr1:173864828-173864829	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs9425433	chr1:173864880-173864881	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs572026583	chr1:173864882-173864883	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541039310	chr1:173864883-173864884	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs560932467	chr1:173864935-173864936	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs7525115	chr1:173864944-173864945	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565543401	chr1:173864959-173864960	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs370203608	chr1:173864983-173864984	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs529802385	chr1:173864987-173864988	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs12116446	chr1:173864999-173865000	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs552138470	chr1:173865030-173865031	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs559607180	chr1:173865032-173865033	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs143099291	chr1:173865057-173865058	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs78615212	chr1:173865090-173865091	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs548198891	chr1:173865194-173865195	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs12060967	chr1:173865234-173865235	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs537133011	chr1:173865259-173865260	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs527241002	chr1:173865336-173865337	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs185245552	chr1:173865365-173865366	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs540693902	chr1:173865367-173865368	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs370887182	chr1:173865376-173865377	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs112939171	chr1:173865391-173865392	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs1322779	chr1:173865406-173865407	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs74407596	chr1:173865461-173865462	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs553352452	chr1:173865532-173865533	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs573596407	chr1:173865571-173865572	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
Autism	22495309	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173838200-173866000	Weak transcription	Small Intestine	intestine
2	chr1:173841000-173864400	Weak transcription	Fetal Heart	heart
3	chr1:173841000-173868600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:173853400-173865200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:173855400-173868000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:173855600-173866800	Weak transcription	Pancreas	Pancrea
7	chr1:173855600-173875400	Weak transcription	NH-A	brain
8	chr1:173855800-173873000	Weak transcription	Fetal Intestine Small	intestine
9	chr1:173855800-173880400	Weak transcription	Thymus	Thymus
10	chr1:173856000-173864200	Weak transcription	Fetal Stomach	stomach
11	chr1:173856000-173864400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:173856000-173865400	Weak transcription	Esophagus	oesophagus
13	chr1:173856000-173868400	Weak transcription	Hela-S3	cervix
14	chr1:173856000-173868600	Weak transcription	Brain Angular Gyrus	brain
15	chr1:173856000-173869400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:173856000-173869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:173856000-173872600	Weak transcription	Fetal Thymus	thymus
18	chr1:173856000-173883000	Weak transcription	Right Ventricle	heart
19	chr1:173856200-173864200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:173856200-173864800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:173856200-173865600	Weak transcription	Dnd41	blood
22	chr1:173856200-173866200	Weak transcription	GM12878-XiMat	blood
23	chr1:173856200-173867800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:173856200-173868800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:173856200-173868800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:173856200-173869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:173856200-173872800	Weak transcription	Ovary	ovary
28	chr1:173856200-173875400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:173856200-173878400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:173856200-173880400	Weak transcription	Psoas Muscle	Psoas
31	chr1:173856400-173864200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:173856400-173867200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:173856400-173868200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:173856400-173873800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:173856400-173876000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:173856400-173880000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:173856600-173868000	Weak transcription	NHDF-Ad	bronchial
38	chr1:173856600-173881200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:173856600-173907200	Weak transcription	Brain Germinal Matrix	brain
40	chr1:173856800-173868800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:173857000-173866200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:173857000-173883800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:173857200-173866200	Weak transcription	Brain Anterior Caudate	brain
44	chr1:173857400-173865000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:173857400-173866600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:173857400-173869000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:173857400-173869400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:173857400-173880400	Weak transcription	Fetal Brain Female	brain
49	chr1:173857400-173881800	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:173857400-173884400	Weak transcription	HepG2	liver

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