Variant report

Variant	nsv6624
Chromosome Location	chr9:99548787-99593968
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:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:99575445..99578387-chr9:99580143..99581802,2	K562	blood:
2	chr9:99573486..99575260-chr9:99580338..99582751,2	K562	blood:
3	chr9:99573486..99575260-chr9:99580338..99582751,2	K562	blood:
4	chr9:99590739..99593514-chr9:99600214..99602245,3	K562	blood:
5	chr9:99549886..99552633-chr9:99554282..99556108,2	MCF-7	breast:
6	chr9:99578364..99581009-chr9:99603434..99605599,2	K562	blood:
7	chr9:99544609..99547026-chr9:99550959..99553770,2	K562	blood:
8	chr9:99525322..99527568-chr9:99591794..99593814,2	K562	blood:
9	chr9:99575445..99578387-chr9:99580143..99581802,2	K562	blood:
10	chr9:99565224..99567212-chr9:99575605..99578267,2	K562	blood:
11	chr9:99573109..99575128-chr9:99575257..99578036,2	K562	blood:
12	chr9:99538893..99540481-chr9:99565907..99567798,2	MCF-7	breast:
13	chr9:99538880..99541997-chr9:99545728..99549044,5	K562	blood:
14	chr9:99544282..99545971-chr9:99591160..99594049,2	K562	blood:
15	chr9:99591817..99593577-chr9:99596010..99597943,2	K562	blood:
16	chr9:99564991..99567645-chr9:99571587..99574162,2	MCF-7	breast:
17	chr9:99549886..99552633-chr9:99554282..99556108,2	MCF-7	breast:
18	chr9:99524920..99527635-chr9:99581689..99584661,3	K562	blood:
19	chr9:99573109..99575128-chr9:99575257..99578036,2	K562	blood:
20	chr9:99564991..99567645-chr9:99571587..99574162,2	MCF-7	breast:
21	chr9:99565224..99567212-chr9:99575605..99578267,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF510-4	chr9:99589362-99589463	NONHSAT133446
2	lnc-ZNF510-4	chr9:99581690-99582060	NONHSAT133446

No data

Variant related genes	Relation type
ENSG00000081386	chromatin interactions

Extended variants
information (count: 1516 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1516 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561145745	chr9:99548794-99548795	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531359109	chr9:99548809-99548810	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550070716	chr9:99548818-99548819	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571417583	chr9:99548846-99548847	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528695250	chr9:99548859-99548860	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532434140	chr9:99548912-99548913	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371954000	chr9:99548932-99548933	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184191605	chr9:99548964-99548965	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547445491	chr9:99549011-99549012	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74822011	chr9:99549076-99549077	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs536394209	chr9:99549156-99549157	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs4538990	chr9:99549191-99549192	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs58098162	chr9:99549198-99549199	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs567854711	chr9:99549199-99549200	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs188231837	chr9:99549254-99549255	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs556699249	chr9:99549266-99549267	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs529741367	chr9:99549282-99549283	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs578206433	chr9:99549283-99549284	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs533100071	chr9:99549417-99549418	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs4344199	chr9:99549449-99549450	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs569696908	chr9:99549456-99549457	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs62558808	chr9:99549489-99549490	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs76972368	chr9:99549508-99549509	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs193076348	chr9:99549521-99549522	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs147025636	chr9:99549542-99549543	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs561197830	chr9:99549574-99549575	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs576202303	chr9:99549616-99549617	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs377497684	chr9:99549617-99549618	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs537003547	chr9:99549618-99549619	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs552522914	chr9:99549626-99549627	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs549272330	chr9:99549633-99549634	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs185279361	chr9:99549634-99549635	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs532496855	chr9:99549641-99549642	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs547706996	chr9:99549647-99549648	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs559403187	chr9:99549650-99549651	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs529670212	chr9:99549651-99549652	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs548290344	chr9:99549704-99549705	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs569681820	chr9:99549792-99549793	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs369198002	chr9:99549801-99549802	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs7025321	chr9:99549807-99549808	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571505914	chr9:99549808-99549809	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs534818171	chr9:99549815-99549816	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs35809662	chr9:99549852-99549853	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs201207361	chr9:99549853-99549854	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs74306492	chr9:99549894-99549895	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs554004297	chr9:99549959-99549960	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs572124202	chr9:99549965-99549966	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs531152974	chr9:99549991-99549992	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs374017271	chr9:99550010-99550011	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs386736588	chr9:99550030-99550031	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:958 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:99541200-99550200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:99541200-99550200	Weak transcription	Left Ventricle	heart
3	chr9:99541200-99550200	Weak transcription	HSMM	muscle
4	chr9:99541200-99550400	Weak transcription	Pancreas	Pancrea
5	chr9:99541200-99552000	Weak transcription	Psoas Muscle	Psoas
6	chr9:99541400-99551800	Weak transcription	Fetal Stomach	stomach
7	chr9:99541600-99550200	Weak transcription	Brain Angular Gyrus	brain
8	chr9:99541600-99550200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:99541600-99550400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr9:99541600-99551200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:99541600-99552200	Weak transcription	Fetal Lung	lung
12	chr9:99541800-99550400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr9:99541800-99556400	Weak transcription	Fetal Heart	heart
14	chr9:99542600-99553400	Weak transcription	Dnd41	blood
15	chr9:99547000-99550000	Weak transcription	Primary B cells from cord blood	blood
16	chr9:99547800-99551200	ZNF genes & repeats	Liver	Liver
17	chr9:99548000-99551200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:99548200-99549000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr9:99548200-99550800	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr9:99548400-99548800	ZNF genes & repeats	Ovary	ovary
21	chr9:99548600-99548800	ZNF genes & repeats	Right Ventricle	heart
22	chr9:99548600-99549000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
23	chr9:99548600-99549000	ZNF genes & repeats	HSMMtube	muscle
24	chr9:99548600-99550200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr9:99548600-99551200	Strong transcription	Brain Germinal Matrix	brain
26	chr9:99548800-99550000	Weak transcription	Ovary	ovary
27	chr9:99548800-99550800	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:99548800-99557000	Weak transcription	Right Ventricle	heart
29	chr9:99549000-99550200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr9:99549000-99551800	Weak transcription	HSMMtube	muscle
31	chr9:99549400-99550800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr9:99549800-99550200	Weak transcription	Fetal Brain Male	brain
33	chr9:99550000-99550800	ZNF genes & repeats	Ovary	ovary
34	chr9:99550000-99550800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
35	chr9:99550000-99551000	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr9:99550200-99550600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:99550200-99550800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
38	chr9:99550200-99550800	ZNF genes & repeats	Brain Angular Gyrus	brain
39	chr9:99550200-99550800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:99550200-99550800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
41	chr9:99550200-99550800	ZNF genes & repeats	Left Ventricle	heart
42	chr9:99550400-99550600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
43	chr9:99550400-99550800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr9:99550400-99550800	ZNF genes & repeats	Fetal Brain Male	brain
45	chr9:99550400-99550800	ZNF genes & repeats	Pancreas	Pancrea
46	chr9:99550400-99551000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
47	chr9:99550600-99550800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:99550800-99552000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr9:99550800-99557000	Weak transcription	Ovary	ovary
50	chr9:99550800-99557000	Weak transcription	Pancreas	Pancrea

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