Variant report

Variant	nsv1032607
Chromosome Location	chr9:2321524-2361722
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	chr9:2333652..2336415-chr9:2621221..2622791,2	MCF-7	breast:
2	chr9:2332261..2334098-chr9:2335447..2337175,2	MCF-7	breast:
3	chr9:2353709..2355330-chr9:2357162..2359493,2	K562	blood:
4	chr9:2335812..2338035-chr9:2341360..2343149,2	MCF-7	breast:
5	chr9:2353709..2356767-chr9:2357162..2361529,4	K562	blood:
6	chr9:2334689..2336340-chr9:2621369..2623518,2	MCF-7	breast:
7	chr9:2332261..2334098-chr9:2335447..2337175,2	MCF-7	breast:
8	chr9:2353709..2355330-chr9:2357162..2359493,2	K562	blood:
9	chr9:2321723..2322570-chr9:2728160..2728820,2	MCF-7	breast:
10	chr9:2335749..2336338-chr9:2727775..2728597,3	MCF-7	breast:
11	chr9:2335812..2338035-chr9:2341360..2343149,2	MCF-7	breast:
12	chr9:2353709..2356767-chr9:2357162..2361529,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147852	chromatin interactions
ENSG00000236404	chromatin interactions

Extended variants
information (count: 1982 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1982 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146860605	chr9:2321541-2321542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535712644	chr9:2321566-2321567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140605410	chr9:2321612-2321613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145701097	chr9:2321615-2321616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73384509	chr9:2321646-2321647	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557814940	chr9:2321678-2321679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112763160	chr9:2321765-2321766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577982302	chr9:2321822-2321823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560068342	chr9:2321827-2321828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534213036	chr9:2321829-2321830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553838845	chr9:2321854-2321855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138172251	chr9:2321872-2321873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542142282	chr9:2321918-2321919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561902147	chr9:2321962-2321963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528730828	chr9:2321978-2321979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575492365	chr9:2322022-2322023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10448165	chr9:2322101-2322102	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564228063	chr9:2322185-2322186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532856235	chr9:2322192-2322193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564216445	chr9:2322202-2322203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371453846	chr9:2322211-2322212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192113363	chr9:2322215-2322216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142785618	chr9:2322225-2322226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150202488	chr9:2322243-2322244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569143120	chr9:2322266-2322267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538029132	chr9:2322289-2322290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551647778	chr9:2322314-2322315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183593748	chr9:2322388-2322389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533989355	chr9:2322401-2322402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533050939	chr9:2322428-2322429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554184696	chr9:2322429-2322430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186768605	chr9:2322430-2322431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535782036	chr9:2322498-2322499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138076229	chr9:2322511-2322512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7021419	chr9:2322572-2322573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs369208779	chr9:2322602-2322603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114851405	chr9:2322638-2322639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577671967	chr9:2322687-2322688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539949568	chr9:2322691-2322692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373704291	chr9:2322728-2322729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191569849	chr9:2322748-2322749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552808438	chr9:2322757-2322758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535076382	chr9:2322764-2322765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542944167	chr9:2322795-2322796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571059773	chr9:2322822-2322823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562866370	chr9:2322904-2322905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377684354	chr9:2322920-2322921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531842741	chr9:2322974-2322975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12345858	chr9:2323003-2323004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs149548980	chr9:2323011-2323012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2314800-2332800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:2321200-2322000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr9:2321200-2322200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr9:2321400-2322000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr9:2321600-2322400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:2332400-2332800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:2332600-2333000	Enhancers	Fetal Muscle Trunk	muscle
8	chr9:2332600-2333200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:2332800-2333000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr9:2332800-2333000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:2333000-2334400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr9:2333000-2335200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr9:2334400-2335400	Enhancers	Fetal Muscle Trunk	muscle
14	chr9:2334800-2335600	Enhancers	Ovary	ovary
15	chr9:2334800-2335600	Enhancers	Right Atrium	heart
16	chr9:2334800-2339000	Enhancers	Adipose Nuclei	Adipose
17	chr9:2335000-2335400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr9:2335000-2335400	Enhancers	Spleen	Spleen
19	chr9:2335000-2335600	Enhancers	Fetal Muscle Leg	muscle
20	chr9:2335000-2335600	Enhancers	Left Ventricle	heart
21	chr9:2335000-2335600	Enhancers	Right Ventricle	heart
22	chr9:2335200-2335400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr9:2335200-2335400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:2335200-2335600	Enhancers	Psoas Muscle	Psoas
25	chr9:2335200-2336000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:2335400-2335600	Enhancers	Colon Smooth Muscle	Colon
27	chr9:2335400-2336200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr9:2335600-2337000	Weak transcription	Fetal Muscle Leg	muscle
29	chr9:2335600-2337000	Weak transcription	Right Atrium	heart
30	chr9:2335600-2337400	Weak transcription	Colon Smooth Muscle	Colon
31	chr9:2335600-2337600	Weak transcription	Psoas Muscle	Psoas
32	chr9:2335600-2337800	Weak transcription	Ovary	ovary
33	chr9:2335600-2346600	Weak transcription	Left Ventricle	heart
34	chr9:2336000-2337200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:2336200-2336400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr9:2336200-2336800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr9:2336400-2337400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr9:2336600-2337200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:2337000-2337200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:2337000-2337200	Enhancers	Fetal Muscle Leg	muscle
41	chr9:2337000-2337400	Enhancers	Right Atrium	heart
42	chr9:2337000-2339000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:2337000-2340200	Enhancers	Fetal Lung	lung
44	chr9:2337200-2337400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr9:2337200-2337600	Weak transcription	Fetal Muscle Leg	muscle
46	chr9:2337200-2338200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:2337200-2338600	Enhancers	Rectal Smooth Muscle	rectum
48	chr9:2337200-2338800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr9:2337200-2339200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:2337400-2338800	Enhancers	Colon Smooth Muscle	Colon

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