Variant report

Variant	nsv900918
Chromosome Location	chr13:93816293-93861348
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:93855392..93860776-chr13:93863717..93866465,4	K562	blood:
2	chr13:93847246..93849434-chr13:93878377..93880915,2	MCF-7	breast:
3	chr13:92006184..92008910-chr13:93854427..93857344,2	K562	blood:
4	chr13:92991818..92993645-chr13:93857308..93859420,2	K562	blood:
5	chr13:93851878..93853804-chr13:93880087..93882810,2	K562	blood:
6	chr13:93822688..93825066-chr13:93878465..93880746,2	MCF-7	breast:
7	chr13:93856789..93859463-chr13:93864470..93867026,2	K562	blood:
8	chr13:93858068..93860043-chr9:134153301..134155123,2	K562	blood:
9	chr13:93858494..93860274-chr9:134145974..134148888,2	K562	blood:
10	chr13:93822312..93824995-chr13:93884132..93886825,2	MCF-7	breast:
11	chr13:93814948..93816850-chr13:93879832..93881528,2	MCF-7	breast:
12	chr13:93852509..93854417-chr13:93874503..93876110,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232885	chromatin interactions
ENSG00000183098	chromatin interactions

Extended variants
information (count: 676 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:676 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139345093	chr13:93821512-93821513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550030207	chr13:93821530-93821531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544753312	chr13:93821560-93821561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143356319	chr13:93821600-93821601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575735514	chr13:93821636-93821637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544829501	chr13:93821647-93821648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538250220	chr13:93821665-93821666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192432133	chr13:93821677-93821678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537993965	chr13:93821696-93821697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183667754	chr13:93821697-93821698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147506068	chr13:93821714-93821715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575101598	chr13:93821782-93821783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532572380	chr13:93821828-93821829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187506107	chr13:93821867-93821868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553147565	chr13:93821882-93821883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192916283	chr13:93821884-93821885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs319548	chr13:93821887-93821888	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545254771	chr13:93821893-93821894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376291751	chr13:93821899-93821900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550704909	chr13:93821930-93821931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567132993	chr13:93821943-93821944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536107992	chr13:93821959-93821960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552873896	chr13:93822069-93822070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113940518	chr13:93822094-93822095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538664132	chr13:93822128-93822129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7335911	chr13:93822149-93822150	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs4627192	chr13:93822181-93822182	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs377088203	chr13:93822182-93822183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369172351	chr13:93822206-93822207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555157151	chr13:93822228-93822229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575098928	chr13:93822237-93822238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548528238	chr13:93822256-93822257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560794999	chr13:93822293-93822294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577293827	chr13:93822298-93822299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554423479	chr13:93822339-93822340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546226323	chr13:93822359-93822360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184578872	chr13:93822384-93822385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376131019	chr13:93822385-93822386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531790126	chr13:93822404-93822405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548408920	chr13:93822410-93822411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371633854	chr13:93822427-93822428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529868862	chr13:93822428-93822429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144476405	chr13:93822443-93822444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577068443	chr13:93822444-93822445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7998568	chr13:93822486-93822487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs11838601	chr13:93822533-93822534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142510319	chr13:93822545-93822546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568767303	chr13:93822597-93822598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537909276	chr13:93822633-93822634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189800031	chr13:93822660-93822661	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	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
Metanephric adenoma	20802469	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93821400-93823000	Enhancers	NHEK	skin
2	chr13:93821400-93823200	Enhancers	HMEC	breast
3	chr13:93821600-93822000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:93821600-93822400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:93821600-93823000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:93821600-93823200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:93821800-93822800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:93821800-93823200	Enhancers	NH-A	brain
9	chr13:93822000-93822400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:93822200-93822800	Enhancers	Osteobl	bone
11	chr13:93822400-93823200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:93825600-93826000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:93832200-93833000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:93832200-93833000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:93832200-93833000	Enhancers	NH-A	brain
16	chr13:93832200-93833600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:93832200-93833600	Enhancers	HSMM	muscle
18	chr13:93832400-93833000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr13:93832800-93833200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:93839200-93841000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr13:93839400-93841000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr13:93839600-93840000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:93839600-93840600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr13:93839600-93841000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr13:93839600-93841000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr13:93839800-93840600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:93844400-93844800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr13:93852400-93853000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr13:93852400-93853200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr13:93852400-93853800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr13:93852400-93854800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr13:93852800-93853200	Enhancers	HepG2	liver
33	chr13:93853000-93853200	Enhancers	K562	blood
34	chr13:93853000-93854200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr13:93853200-93854200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr13:93853200-93854200	Weak transcription	HepG2	liver
37	chr13:93853600-93854800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr13:93853800-93854600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr13:93854200-93854600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr13:93854200-93855200	Enhancers	Liver	Liver
41	chr13:93854200-93855200	Enhancers	HepG2	liver
42	chr13:93854400-93854600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr13:93854600-93854800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr13:93856600-93856800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr13:93856800-93866600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr13:93858000-93860600	Weak transcription	Right Atrium	heart
47	chr13:93859000-93859400	Enhancers	H1 Cell Line	embryonic stem cell

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