Variant report

Variant	nsv471161
Chromosome Location	chr13:85497445-85628777
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	chr13:85624379..85624909-chr13:86373073..86373588,2	MCF-7	breast:

Extended variants
information (count: 2579 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:2579 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9593952	chr13:85497445-85497446	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7331978	chr13:85497477-85497478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs74101417	chr13:85497480-85497481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs75237464	chr13:85497519-85497520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144435628	chr13:85497522-85497523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79126812	chr13:85497525-85497526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552626073	chr13:85497550-85497551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528630905	chr13:85497591-85497592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79760286	chr13:85497597-85497598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72632137	chr13:85497602-85497603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs370607065	chr13:85497746-85497747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9575680	chr13:85497754-85497755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs78062060	chr13:85497758-85497759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541132873	chr13:85497766-85497767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550445615	chr13:85497769-85497770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182244184	chr13:85497801-85497802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549128473	chr13:85497802-85497803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534747063	chr13:85497803-85497804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537080969	chr13:85497804-85497805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536142645	chr13:85497814-85497815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554195669	chr13:85497831-85497832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6563419	chr13:85497853-85497854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34875104	chr13:85497867-85497868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374354594	chr13:85497957-85497958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533517413	chr13:85497991-85497992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558605657	chr13:85498030-85498031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576962553	chr13:85498044-85498045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187279385	chr13:85498089-85498090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188336434	chr13:85498108-85498109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374468918	chr13:85498147-85498148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148809133	chr13:85498158-85498159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75741739	chr13:85498164-85498165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372254498	chr13:85498236-85498237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560223558	chr13:85498247-85498248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527599499	chr13:85498258-85498259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140493519	chr13:85498340-85498341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71689797	chr13:85498341-85498342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7338404	chr13:85498343-85498344	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs111740469	chr13:85498345-85498346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs202201131	chr13:85498348-85498349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142431175	chr13:85498414-85498415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184914774	chr13:85498421-85498422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190121615	chr13:85498471-85498472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79245408	chr13:85498507-85498508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201773554	chr13:85498520-85498521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373171119	chr13:85498533-85498534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535702830	chr13:85498546-85498547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs80148376	chr13:85499627-85499628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191831355	chr13:85499634-85499635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9531676	chr13:85499682-85499683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85493000-85497600	Weak transcription	Fetal Kidney	kidney
2	chr13:85497400-85498400	Enhancers	Fetal Lung	lung
3	chr13:85497600-85498600	Enhancers	Fetal Kidney	kidney
4	chr13:85499600-85499800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:85499800-85526600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:85501400-85501600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:85501400-85502000	Enhancers	Esophagus	oesophagus
8	chr13:85501600-85503400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:85506400-85509000	Weak transcription	Right Atrium	heart
10	chr13:85507800-85508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:85507800-85509000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr13:85508000-85508200	Enhancers	Fetal Kidney	kidney
13	chr13:85508000-85508400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:85508000-85508600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr13:85508200-85508400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr13:85508200-85509200	Weak transcription	Fetal Kidney	kidney
17	chr13:85508400-85516000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:85508600-85509000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr13:85508600-85509000	Enhancers	Fetal Lung	lung
20	chr13:85508800-85509400	Active TSS	Stomach Smooth Muscle	stomach
21	chr13:85508800-85509600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:85508800-85509600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:85508800-85509800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr13:85509000-85509200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr13:85509000-85509200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:85509000-85509200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:85509000-85509200	Active TSS	Liver	Liver
28	chr13:85509000-85509400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:85509000-85509400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr13:85509000-85509400	Active TSS	Primary B cells from cord blood	blood
31	chr13:85509000-85509400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:85509000-85509400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr13:85509000-85509400	Active TSS	Brain Substantia Nigra	brain
34	chr13:85509000-85509400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr13:85509000-85509400	Active TSS	Fetal Lung	lung
36	chr13:85509000-85509400	Active TSS	Right Atrium	heart
37	chr13:85509000-85509400	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr13:85509000-85509400	Active TSS	NHEK	skin
39	chr13:85509000-85509600	Active TSS	Primary hematopoietic stem cells	blood
40	chr13:85509000-85509600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr13:85509000-85509600	Active TSS	Duodenum Mucosa	Duodenum
42	chr13:85509000-85509600	Active TSS	A549	lung
43	chr13:85509000-85509600	Active TSS	NHLF	lung
44	chr13:85509200-85509400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr13:85509200-85509400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr13:85509200-85509400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:85509200-85509400	Enhancers	Adipose Nuclei	Adipose
48	chr13:85509200-85509400	Flanking Active TSS	Liver	Liver
49	chr13:85509200-85509400	Enhancers	Fetal Kidney	kidney
50	chr13:85509200-85509400	Enhancers	Dnd41	blood

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