Variant report

Variant	nsv1035769
Chromosome Location	chr13:91202639-91255355
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:91234454..91236037-chr13:91238963..91241701,2	K562	blood:
2	chr13:91239288..91240866-chr13:91242926..91245401,2	K562	blood:
3	chr13:91239288..91240866-chr13:91242926..91245401,2	K562	blood:
4	chr13:91251912..91255941-chr13:91298469..91300971,3	K562	blood:
5	chr13:91238980..91241564-chr19:3983937..3985547,2	K562	blood:
6	chr13:91217173..91220077-chr13:91222325..91225635,3	K562	blood:
7	chr13:91247262..91250032-chr13:91253392..91255538,2	K562	blood:
8	chr13:91202714..91204329-chr13:91304356..91306034,2	K562	blood:
9	chr13:91247262..91250032-chr13:91253392..91255538,2	K562	blood:
10	chr13:91253046..91255941-chr13:91298469..91300971,2	K562	blood:
11	chr13:91231249..91234232-chr13:91237592..91239093,2	K562	blood:
12	chr13:91242798..91245229-chr13:91248546..91250766,3	K562	blood:
13	chr13:91234676..91237936-chr13:91245692..91248100,3	K562	blood:
14	chr13:91199520..91203649-chr13:91208755..91211499,3	K562	blood:
15	chr13:91199520..91203649-chr13:91208755..91211499,3	K562	blood:
16	chr13:91234676..91237936-chr13:91245692..91248100,3	K562	blood:
17	chr13:91231249..91234232-chr13:91237592..91239093,2	K562	blood:
18	chr13:91242211..91243772-chr13:91995826..91998214,2	K562	blood:
19	chr13:91234454..91236037-chr13:91238963..91241701,2	K562	blood:
20	chr13:91243496..91244031-chr13:91519248..91519751,2	MCF-7	breast:
21	chr13:91211018..91212874-chr13:91213382..91215314,2	K562	blood:
22	chr13:91217173..91220077-chr13:91222325..91225635,3	K562	blood:
23	chr11:62803292..62803814-chr13:91253834..91254354,2	MCF-7	breast:
24	chr13:91242798..91245229-chr13:91248546..91250766,3	K562	blood:
25	chr13:91250027..91251992-chr13:91254709..91256250,2	K562	blood:
26	chr13:91250027..91251992-chr13:91254709..91256250,2	K562	blood:
27	chr13:91211018..91212874-chr13:91213382..91215314,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167658	chromatin interactions

Extended variants
information (count: 732 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1929035	chr13:91203410-91203411	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547126797	chr13:91203460-91203461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559294977	chr13:91203487-91203488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs207474198	chr13:91203502-91203503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576784361	chr13:91203508-91203509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532832171	chr13:91203513-91203514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552787814	chr13:91203516-91203517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9583814	chr13:91203544-91203545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544201461	chr13:91203545-91203546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9523021	chr13:91203554-91203555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550417932	chr13:91203573-91203574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557995837	chr13:91203802-91203803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72642713	chr13:91203822-91203823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559943781	chr13:91203833-91203834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543338268	chr13:91203836-91203837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561528424	chr13:91203847-91203848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573537380	chr13:91203910-91203911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552352203	chr13:91203924-91203925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9515772	chr13:91203931-91203932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369958937	chr13:91203937-91203938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550507351	chr13:91203951-91203952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559189629	chr13:91203959-91203960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183647177	chr13:91203976-91203977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139863542	chr13:91204020-91204021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200202404	chr13:91204063-91204064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145018780	chr13:91204065-91204066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs5805646	chr13:91204066-91204067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199811318	chr13:91204067-91204068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564775385	chr13:91204124-91204125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143379345	chr13:91204228-91204229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200796694	chr13:91204259-91204260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568660878	chr13:91204276-91204277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541256167	chr13:91204278-91204279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547827980	chr13:91204364-91204365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566055253	chr13:91204406-91204407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539791652	chr13:91204425-91204426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538083224	chr13:91204495-91204496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113271614	chr13:91204538-91204539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576060903	chr13:91204543-91204544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536936645	chr13:91204554-91204555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551918825	chr13:91204566-91204567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568373846	chr13:91204661-91204662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568833193	chr13:91204667-91204668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374768467	chr13:91204686-91204687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188310151	chr13:91204688-91204689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555286240	chr13:91204756-91204757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537700287	chr13:91204845-91204846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573457937	chr13:91204904-91204905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564844589	chr13:91205037-91205038	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs540880588	chr13:91205101-91205102	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Small bowel adenocarcinoma	21586687	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
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
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91203400-91203600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:91203800-91205000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:91205000-91205400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:91205000-91205600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr13:91205000-91205600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:91205000-91205600	Enhancers	Fetal Brain Male	brain
7	chr13:91205000-91205600	Enhancers	Fetal Brain Female	brain
8	chr13:91205000-91205800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:91205200-91205600	Enhancers	NHEK	skin
10	chr13:91205400-91205800	Enhancers	Fetal Lung	lung
11	chr13:91210400-91210800	Enhancers	Fetal Brain Male	brain
12	chr13:91214600-91215000	Enhancers	HSMMtube	muscle
13	chr13:91214600-91215200	Enhancers	HSMM	muscle
14	chr13:91214800-91215000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:91217800-91218200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:91217800-91218600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr13:91217800-91218600	Enhancers	Primary hematopoietic stem cells	blood
18	chr13:91217800-91218600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr13:91218200-91218600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:91218600-91218800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:91228400-91228600	ZNF genes & repeats	Pancreas	Pancrea
22	chr13:91228600-91228800	Enhancers	Pancreas	Pancrea
23	chr13:91229800-91230200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:91230200-91230600	Enhancers	Fetal Intestine Small	intestine
25	chr13:91230600-91233200	Weak transcription	Fetal Intestine Small	intestine
26	chr13:91232400-91246800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:91233200-91234400	Enhancers	Fetal Intestine Small	intestine
28	chr13:91240000-91240400	Enhancers	Small Intestine	intestine
29	chr13:91241400-91245600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr13:91242200-91244200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr13:91242400-91244400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:91243000-91244000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:91244000-91244200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr13:91244000-91244400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr13:91244000-91244600	Enhancers	NHEK	skin
36	chr13:91244200-91244400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr13:91244200-91244800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr13:91244400-91244800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr13:91244400-91245200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr13:91244800-91246800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr13:91245200-91246800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr13:91246400-91247400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr13:91246600-91247000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:91246800-91247200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr13:91246800-91247200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr13:91246800-91247400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr13:91246800-91247400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:91246800-91247400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr13:91246800-91247400	Enhancers	Hela-S3	cervix
50	chr13:91246800-91247400	Enhancers	HMEC	breast

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