Variant report

Variant	nsv1052168
Chromosome Location	chr13:49691378-49743696
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:49549419..49551021-chr13:49688734..49691659,2	MCF-7	breast:
2	chr11:118790768..118792808-chr13:49718950..49721399,2	MCF-7	breast:
3	chr13:49709889..49712685-chr13:49713112..49715905,2	MCF-7	breast:
4	chr13:49711932..49714656-chr13:49715511..49717993,2	K562	blood:
5	chr13:49549163..49550802-chr13:49703003..49705467,2	K562	blood:
6	chr13:49738507..49740067-chr13:49743815..49746234,2	K562	blood:
7	chr13:49711932..49714656-chr13:49715511..49717993,2	K562	blood:
8	chr13:49709889..49712685-chr13:49713112..49715905,2	MCF-7	breast:
9	chr13:49687421..49689642-chr13:49691753..49693412,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000102531	chromatin interactions

Extended variants
information (count: 1830 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:1830 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189645272	chr13:49691385-49691386	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142411317	chr13:49691391-49691392	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146865819	chr13:49691436-49691437	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117911702	chr13:49691508-49691509	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528183157	chr13:49691563-49691564	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572272054	chr13:49691588-49691589	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546403471	chr13:49691592-49691593	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535977316	chr13:49691597-49691598	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181944556	chr13:49691617-49691618	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200685612	chr13:49691740-49691741	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536458699	chr13:49691760-49691761	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555719496	chr13:49691769-49691770	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35942121	chr13:49691777-49691778	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535480536	chr13:49691804-49691805	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139251624	chr13:49691827-49691828	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537006810	chr13:49691867-49691868	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186318148	chr13:49691874-49691875	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575605146	chr13:49691879-49691880	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577214413	chr13:49691909-49691910	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191954725	chr13:49691994-49691995	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553226023	chr13:49691996-49691997	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181625054	chr13:49691999-49692000	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141700346	chr13:49692045-49692046	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563530111	chr13:49692084-49692085	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114975368	chr13:49692172-49692173	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150488139	chr13:49692208-49692209	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564085521	chr13:49692211-49692212	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377187895	chr13:49692224-49692225	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528106560	chr13:49692304-49692305	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138306501	chr13:49692314-49692315	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558938803	chr13:49692342-49692343	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561649235	chr13:49692350-49692351	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530185294	chr13:49692364-49692365	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77238278	chr13:49692371-49692372	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548382638	chr13:49692395-49692396	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149253956	chr13:49692417-49692418	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537345862	chr13:49692455-49692456	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552479103	chr13:49692456-49692457	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35016438	chr13:49692471-49692472	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144430431	chr13:49692481-49692482	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534724357	chr13:49692494-49692495	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186705705	chr13:49692516-49692517	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543857729	chr13:49692523-49692524	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs137967399	chr13:49692551-49692552	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535606631	chr13:49692570-49692571	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561499845	chr13:49692627-49692628	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575559320	chr13:49692628-49692629	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191143760	chr13:49692690-49692691	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557780894	chr13:49692699-49692700	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376287650	chr13:49692707-49692708	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:1917 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49657200-49692400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:49685000-49693000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:49685200-49692600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:49685400-49692400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:49685600-49692200	Weak transcription	Fetal Stomach	stomach
6	chr13:49685600-49692800	Weak transcription	Colonic Mucosa	Colon
7	chr13:49685600-49705400	Weak transcription	K562	blood
8	chr13:49686000-49692600	Weak transcription	Aorta	Aorta
9	chr13:49687400-49692200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:49687600-49692200	Weak transcription	Gastric	stomach
11	chr13:49687600-49692400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:49687600-49692400	Weak transcription	Pancreas	Pancrea
13	chr13:49687600-49692400	Weak transcription	Spleen	Spleen
14	chr13:49687600-49693000	Weak transcription	Brain Hippocampus Middle	brain
15	chr13:49687600-49705800	Weak transcription	Small Intestine	intestine
16	chr13:49687600-49706200	Weak transcription	Fetal Heart	heart
17	chr13:49687600-49724200	Weak transcription	Esophagus	oesophagus
18	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
19	chr13:49687800-49692400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr13:49688000-49692400	Weak transcription	Thymus	Thymus
21	chr13:49688000-49692600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr13:49688000-49705000	Weak transcription	Right Ventricle	heart
23	chr13:49688200-49702200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr13:49688400-49691400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:49688600-49692200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:49688800-49691400	Strong transcription	Fetal Intestine Large	intestine
27	chr13:49688800-49692200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:49688800-49692200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:49688800-49692600	Strong transcription	HUVEC	blood vessel
30	chr13:49688800-49693000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:49688800-49693600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr13:49688800-49694000	Strong transcription	Liver	Liver
33	chr13:49688800-49694000	Strong transcription	Placenta	Placenta
34	chr13:49689000-49691800	Strong transcription	NH-A	brain
35	chr13:49689000-49692400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr13:49689000-49693000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr13:49689000-49693600	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr13:49689000-49693600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:49689000-49694000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr13:49689000-49711200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr13:49689200-49691800	Strong transcription	NHDF-Ad	bronchial
42	chr13:49689200-49692200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:49689200-49692400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr13:49689200-49693000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr13:49689200-49693600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr13:49689200-49693600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr13:49689200-49693600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr13:49689200-49693600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr13:49689200-49693600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr13:49689200-49693600	Strong transcription	Monocytes-CD14+_RO01746	blood

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