Variant report

Variant	nsv525996
Chromosome Location	chr13:49210802-49222178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49213689..49215557-chr13:49216870..49218702,2	K562	blood:
2	chr13:49212874..49214823-chr13:49219265..49221630,2	K562	blood:
3	chr13:49212874..49214823-chr13:49219265..49221630,2	K562	blood:
4	chr13:49213689..49215557-chr13:49216870..49218702,2	K562	blood:
5	chr13:49221601..49222385-chr13:49305871..49306516,2	MCF-7	breast:
6	chr13:49217399..49217979-chr13:49342910..49343628,2	MCF-7	breast:

Extended variants
information (count: 409 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1980839	chr13:49210802-49210803	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11618058	chr13:49210826-49210827	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568167526	chr13:49210831-49210832	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138613318	chr13:49210856-49210857	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575839922	chr13:49210859-49210860	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183094733	chr13:49210866-49210867	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539437057	chr13:49210869-49210870	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1980838	chr13:49210896-49210897	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs566756904	chr13:49210917-49210918	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77709580	chr13:49210956-49210957	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555243983	chr13:49210974-49210975	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574893555	chr13:49210983-49210984	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541920068	chr13:49211019-49211020	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570860250	chr13:49211033-49211034	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2839892	chr13:49211035-49211036	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369044681	chr13:49211036-49211037	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556942042	chr13:49211075-49211076	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575283493	chr13:49211178-49211179	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545774383	chr13:49211280-49211281	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35688024	chr13:49211288-49211289	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs56794459	chr13:49211307-49211308	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531800129	chr13:49211312-49211313	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528749689	chr13:49211315-49211316	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540837067	chr13:49211341-49211342	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186884120	chr13:49211349-49211350	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75276982	chr13:49211360-49211361	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141622283	chr13:49211385-49211386	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144479261	chr13:49211389-49211390	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148461205	chr13:49211393-49211394	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372461041	chr13:49211427-49211428	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551417788	chr13:49211436-49211437	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545313832	chr13:49211437-49211438	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199575472	chr13:49211445-49211446	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140961637	chr13:49211450-49211451	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532991055	chr13:49211657-49211658	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571430918	chr13:49211679-49211680	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2146861	chr13:49211743-49211744	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs182138987	chr13:49211744-49211745	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533814382	chr13:49211759-49211760	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549172130	chr13:49211761-49211762	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78678644	chr13:49211840-49211841	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187948677	chr13:49211881-49211882	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34543680	chr13:49211964-49211965	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368245915	chr13:49211965-49211966	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74074988	chr13:49211970-49211971	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs539468642	chr13:49211999-49212000	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535453933	chr13:49212004-49212005	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573489301	chr13:49212031-49212032	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78307813	chr13:49212075-49212076	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562401699	chr13:49212099-49212100	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Chronic myeloid leukemia	21384125	CNVD
Sezary syndrome	18413736	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49208800-49213200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:49210200-49211000	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr13:49210200-49212800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr13:49210400-49211000	ZNF genes & repeats	Brain Hippocampus Middle	brain
5	chr13:49210400-49211000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
6	chr13:49210400-49211400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:49210400-49212000	Weak transcription	Fetal Kidney	kidney
8	chr13:49210400-49212200	Enhancers	Adipose Nuclei	Adipose
9	chr13:49210600-49211200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:49210800-49211000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:49210800-49211000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:49210800-49211800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:49210800-49211800	Weak transcription	Stomach Mucosa	stomach
14	chr13:49210800-49212000	Enhancers	HMEC	breast
15	chr13:49210800-49212400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr13:49210800-49218000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr13:49211000-49212000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr13:49211200-49211800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:49211200-49211800	Enhancers	Duodenum Mucosa	Duodenum
20	chr13:49211800-49212000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:49211800-49212000	Enhancers	Stomach Mucosa	stomach
22	chr13:49212000-49212400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr13:49214400-49217000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr13:49214800-49215200	Enhancers	Dnd41	blood
25	chr13:49214800-49216400	Enhancers	K562	blood
26	chr13:49215200-49221000	Weak transcription	Dnd41	blood
27	chr13:49215400-49215800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:49215800-49216200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:49217000-49221000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:49217600-49221000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr13:49218000-49220000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:49218000-49220200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:49218200-49218600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:49220200-49222600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:49220600-49220800	Enhancers	Fetal Thymus	thymus
36	chr13:49221000-49221200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:49221000-49221200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr13:49221000-49221200	Enhancers	Gastric	stomach
39	chr13:49221000-49221200	Enhancers	Pancreas	Pancrea
40	chr13:49221000-49221400	Enhancers	Dnd41	blood
41	chr13:49221200-49221400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr13:49221200-49221800	Enhancers	Stomach Mucosa	stomach
43	chr13:49221400-49222000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr13:49221400-49226200	Weak transcription	Dnd41	blood
45	chr13:49221600-49223000	Enhancers	Adipose Nuclei	Adipose
46	chr13:49221800-49222600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:49222000-49225200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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