Variant report

Variant	nsv531563
Chromosome Location	chr9:2324333-2501030
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:32)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2496935..2498735-chr9:2499361..2500948,2	MCF-7	breast:
2	chr9:2332261..2334098-chr9:2335447..2337175,2	MCF-7	breast:
3	chr9:2419060..2420979-chr9:2425024..2427147,2	K562	blood:
4	chr9:2469321..2470077-chr9:2662127..2662743,2	MCF-7	breast:
5	chr9:2353709..2355330-chr9:2357162..2359493,2	K562	blood:
6	chr9:2469587..2470552-chr9:2495208..2496164,11	MCF-7	breast:
7	chr9:2422977..2424644-chr9:2426365..2429153,2	MCF-7	breast:
8	chr9:2334689..2336340-chr9:2621369..2623518,2	MCF-7	breast:
9	chr9:2422977..2424644-chr9:2426365..2429153,2	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:
13	chr9:2486399..2488878-chr9:2490772..2493168,2	MCF-7	breast:
14	chr9:2367757..2369969-chr9:2374700..2376724,2	K562	blood:
15	chr9:2472769..2475226-chr9:2476541..2478535,2	MCF-7	breast:
16	chr9:2469803..2470606-chr9:2495203..2496152,5	MCF-7	breast:
17	chr9:2333652..2336415-chr9:2621221..2622791,2	MCF-7	breast:
18	chr9:2367757..2369969-chr9:2374700..2376724,2	K562	blood:
19	chr9:2353709..2356767-chr9:2357162..2361529,4	K562	blood:
20	chr9:2469803..2470606-chr9:2495203..2496152,5	MCF-7	breast:
21	chr9:2377530..2380377-chr9:2380910..2383194,2	MCF-7	breast:
22	chr9:2496935..2498735-chr9:2499361..2500948,2	MCF-7	breast:
23	chr9:2472769..2475226-chr9:2476541..2478535,2	MCF-7	breast:
24	chr9:2419060..2420979-chr9:2425024..2427147,2	K562	blood:
25	chr9:2335812..2338035-chr9:2341360..2343149,2	MCF-7	breast:
26	chr9:2353709..2355330-chr9:2357162..2359493,2	K562	blood:
27	chr9:2469587..2470552-chr9:2495208..2496164,11	MCF-7	breast:
28	chr9:2469664..2470582-chr9:2495207..2496164,12	MCF-7	breast:
29	chr9:2377530..2380377-chr9:2380910..2383194,2	MCF-7	breast:
30	chr9:2332261..2334098-chr9:2335447..2337175,2	MCF-7	breast:
31	chr9:2486399..2488878-chr9:2490772..2493168,2	MCF-7	breast:
32	chr9:2469664..2470582-chr9:2495207..2496164,12	MCF-7	breast:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VLDLR-2	chr9:2408820-2408888	XLOC_007266
2	lnc-KIAA0020-1	chr9:2493073-2493180	ENSG00000236404
3	lnc-KIAA0020-1	chr9:2423837-2423844	NONHSAT129995
4	lnc-KIAA0020-1	chr9:2494061-2494105	ENSG00000236404
5	lnc-VLDLR-2	chr9:2429811-2429986	XLOC_007266
6	lnc-KIAA0020-1	chr9:2484180-2484336	l_3727_chr9:2411588-2611526_ovary
7	lnc-KIAA0020-1	chr9:2425397-2425540	ENSG00000236404.4
8	lnc-KIAA0020-1	chr9:2411589-2414510	l_3727_chr9:2411588-2611526_ovary
9	lnc-KIAA0020-1	chr9:2422702-2424510	ENSG00000236404
10	lnc-KIAA0020-1	chr9:2494180-2494302	ENSG00000236404.4
11	lnc-KIAA0020-1	chr9:2423860-2427978	NONHSAT129995
12	lnc-KIAA0020-1	chr9:2425393-2425545	ENSG00000236404
13	lnc-KIAA0020-1	chr9:2483075-2483418	l_3727_chr9:2411588-2611526_ovary
14	lnc-KIAA0020-1	chr9:2496359-2496540	l_3727_chr9:2411588-2611526_ovary
15	lnc-KIAA0020-1	chr9:2486316-2486612	l_3727_chr9:2411588-2611526_ovary
16	lnc-KIAA0020-1	chr9:2493270-2493403	l_3727_chr9:2411588-2611526_ovary
17	lnc-KIAA0020-1	chr9:2493075-2493180	ENSG00000236404.4
18	lnc-KIAA0020-1	chr9:2422702-2424510	ENSG00000236404.4
19	lnc-KIAA0020-1	chr9:2486116-2486306	l_3727_chr9:2411588-2611526_ovary
20	lnc-VLDLR-2	chr9:2390027-2390054	XLOC_007266
21	lnc-KIAA0020-1	chr9:2415397-2415540	l_3727_chr9:2411588-2611526_ovary

No data

Variant related genes	Relation type
ENSG00000236404	chromatin interactions
ENSG00000147852	chromatin interactions

Extended variants
information (count: 8568 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:8568 , 50 per page) page: 1 2 3 4 5 6 7 ... 172

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563214069	chr9:2324357-2324358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs16938403	chr9:2324371-2324372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140665961	chr9:2324372-2324373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180943127	chr9:2324377-2324378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538270070	chr9:2324408-2324409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374895406	chr9:2324451-2324452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186033865	chr9:2324452-2324453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572653799	chr9:2324454-2324455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541743789	chr9:2324462-2324463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145675876	chr9:2324508-2324509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146573076	chr9:2324542-2324543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543964970	chr9:2324557-2324558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16938404	chr9:2324558-2324559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs17407541	chr9:2324584-2324585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534199641	chr9:2324619-2324620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552300078	chr9:2324620-2324621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551230051	chr9:2324623-2324624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17473202	chr9:2324646-2324647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs527627436	chr9:2324676-2324677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547272566	chr9:2324680-2324681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567149247	chr9:2324697-2324698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536063172	chr9:2324702-2324703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549530319	chr9:2324706-2324707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373200270	chr9:2324712-2324713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569659321	chr9:2324733-2324734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17473237	chr9:2324738-2324739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs149172614	chr9:2324760-2324761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373890809	chr9:2324763-2324764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17407619	chr9:2324773-2324774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs143236461	chr9:2324777-2324778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567646298	chr9:2324829-2324830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370084659	chr9:2324888-2324889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535374273	chr9:2324890-2324891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555279820	chr9:2324913-2324914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575160344	chr9:2324923-2324924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544048419	chr9:2324972-2324973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17473293	chr9:2325010-2325011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577312684	chr9:2325028-2325029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191281666	chr9:2325051-2325052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62529075	chr9:2325075-2325076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181299495	chr9:2325091-2325092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541793588	chr9:2325142-2325143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116102909	chr9:2325150-2325151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148309577	chr9:2325152-2325153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59241531	chr9:2325160-2325161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573234681	chr9:2325173-2325174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10965677	chr9:2325176-2325177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190806747	chr9:2325180-2325181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10965678	chr9:2325181-2325182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188012728	chr9:2325187-2325188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Chordoma	21215367	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:949 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2314800-2332800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:2332400-2332800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:2332600-2333000	Enhancers	Fetal Muscle Trunk	muscle
4	chr9:2332600-2333200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:2332800-2333000	Enhancers	H9 Cell Line	embryonic stem cell
6	chr9:2332800-2333000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:2333000-2334400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr9:2333000-2335200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr9:2334400-2335400	Enhancers	Fetal Muscle Trunk	muscle
10	chr9:2334800-2335600	Enhancers	Ovary	ovary
11	chr9:2334800-2335600	Enhancers	Right Atrium	heart
12	chr9:2334800-2339000	Enhancers	Adipose Nuclei	Adipose
13	chr9:2335000-2335400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr9:2335000-2335400	Enhancers	Spleen	Spleen
15	chr9:2335000-2335600	Enhancers	Fetal Muscle Leg	muscle
16	chr9:2335000-2335600	Enhancers	Left Ventricle	heart
17	chr9:2335000-2335600	Enhancers	Right Ventricle	heart
18	chr9:2335200-2335400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr9:2335200-2335400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:2335200-2335600	Enhancers	Psoas Muscle	Psoas
21	chr9:2335200-2336000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:2335400-2335600	Enhancers	Colon Smooth Muscle	Colon
23	chr9:2335400-2336200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr9:2335600-2337000	Weak transcription	Fetal Muscle Leg	muscle
25	chr9:2335600-2337000	Weak transcription	Right Atrium	heart
26	chr9:2335600-2337400	Weak transcription	Colon Smooth Muscle	Colon
27	chr9:2335600-2337600	Weak transcription	Psoas Muscle	Psoas
28	chr9:2335600-2337800	Weak transcription	Ovary	ovary
29	chr9:2335600-2346600	Weak transcription	Left Ventricle	heart
30	chr9:2336000-2337200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:2336200-2336400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr9:2336200-2336800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr9:2336400-2337400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr9:2336600-2337200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:2337000-2337200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:2337000-2337200	Enhancers	Fetal Muscle Leg	muscle
37	chr9:2337000-2337400	Enhancers	Right Atrium	heart
38	chr9:2337000-2339000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:2337000-2340200	Enhancers	Fetal Lung	lung
40	chr9:2337200-2337400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr9:2337200-2337600	Weak transcription	Fetal Muscle Leg	muscle
42	chr9:2337200-2338200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:2337200-2338600	Enhancers	Rectal Smooth Muscle	rectum
44	chr9:2337200-2338800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr9:2337200-2339200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:2337400-2338800	Enhancers	Colon Smooth Muscle	Colon
47	chr9:2337400-2346600	Weak transcription	Right Atrium	heart
48	chr9:2337600-2337800	Enhancers	Psoas Muscle	Psoas
49	chr9:2337600-2339600	Enhancers	Fetal Muscle Leg	muscle
50	chr9:2337600-2341400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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