Variant report

Variant	nsv972794
Chromosome Location	chr9:103048878-103055461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:103048911..103050784-chr9:103054222..103056067,2	K562	blood:
2	chr9:103048911..103050784-chr9:103054222..103056067,2	K562	blood:
3	chr9:103041102..103043350-chr9:103052367..103054020,2	MCF-7	breast:

Extended variants
information (count: 251 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568419487	chr9:103048930-103048931	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144148839	chr9:103048933-103048934	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148680698	chr9:103049012-103049013	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533085499	chr9:103049063-103049064	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182620419	chr9:103049094-103049095	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188106680	chr9:103049103-103049104	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192889601	chr9:103049238-103049239	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2787371	chr9:103049244-103049245	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs142175622	chr9:103049257-103049258	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113376862	chr9:103049284-103049285	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540897548	chr9:103049309-103049310	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554153634	chr9:103049328-103049329	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376899242	chr9:103049390-103049391	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560055279	chr9:103049418-103049419	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574137366	chr9:103049444-103049445	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543402672	chr9:103049456-103049457	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76993604	chr9:103049486-103049487	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532221318	chr9:103049497-103049498	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146717854	chr9:103049555-103049556	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373516408	chr9:103049557-103049558	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559960839	chr9:103049558-103049559	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528800067	chr9:103049563-103049564	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111579140	chr9:103049633-103049634	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561052034	chr9:103049655-103049656	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188469128	chr9:103049659-103049660	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192544632	chr9:103049690-103049691	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140302826	chr9:103049709-103049710	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570890735	chr9:103049760-103049761	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75468916	chr9:103049821-103049822	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558350877	chr9:103049829-103049830	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184769752	chr9:103049832-103049833	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78163998	chr9:103049864-103049865	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554490698	chr9:103049918-103049919	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574655563	chr9:103049921-103049922	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536682795	chr9:103049938-103049939	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556885014	chr9:103049966-103049967	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576889851	chr9:103050030-103050031	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545838783	chr9:103050037-103050038	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12000423	chr9:103050109-103050110	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11999065	chr9:103050128-103050129	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7862162	chr9:103050221-103050222	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs370947335	chr9:103050266-103050267	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576075066	chr9:103050294-103050295	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562393538	chr9:103050298-103050299	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188369527	chr9:103050318-103050319	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550713865	chr9:103050332-103050333	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144032764	chr9:103050347-103050348	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180972740	chr9:103050348-103050349	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566623069	chr9:103050368-103050369	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543401673	chr9:103050389-103050390	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102973000-103053800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr9:102979400-103054600	Weak transcription	NHEK	skin
3	chr9:102987400-103054600	Weak transcription	Gastric	stomach
4	chr9:102997800-103054400	Weak transcription	Colonic Mucosa	Colon
5	chr9:103029000-103053600	Weak transcription	Hela-S3	cervix
6	chr9:103029200-103054600	Weak transcription	Brain Angular Gyrus	brain
7	chr9:103040400-103053000	Weak transcription	NHLF	lung
8	chr9:103040400-103058600	Weak transcription	NH-A	brain
9	chr9:103044000-103067800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:103044200-103071200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:103044600-103102400	Weak transcription	Stomach Mucosa	stomach
12	chr9:103044800-103049600	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr9:103044800-103067800	Strong transcription	Stomach Smooth Muscle	stomach
14	chr9:103045200-103053000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:103045800-103050800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:103045800-103051200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr9:103045800-103051200	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr9:103045800-103052000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:103045800-103052000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:103045800-103052200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr9:103046000-103051200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr9:103046000-103051600	Strong transcription	Placenta	Placenta
23	chr9:103046000-103052000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:103046000-103052400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr9:103046000-103075400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr9:103046200-103050400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr9:103046200-103050600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:103046200-103051600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr9:103046200-103060000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr9:103046200-103072800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr9:103046400-103050000	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr9:103046400-103050600	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr9:103046400-103104000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr9:103046600-103049000	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr9:103046600-103050600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
36	chr9:103046600-103051000	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr9:103046600-103051200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr9:103046600-103092400	Strong transcription	Fetal Thymus	thymus
39	chr9:103046800-103050600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:103046800-103050600	ZNF genes & repeats	A549	lung
41	chr9:103046800-103055400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr9:103047000-103049400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:103047000-103049400	Weak transcription	Lung	lung
44	chr9:103047000-103049600	Weak transcription	Aorta	Aorta
45	chr9:103047000-103049600	Weak transcription	Psoas Muscle	Psoas
46	chr9:103047000-103050200	Weak transcription	Right Ventricle	heart
47	chr9:103047000-103052800	Weak transcription	Esophagus	oesophagus
48	chr9:103047000-103053400	Weak transcription	Spleen	Spleen
49	chr9:103047000-103057000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr9:103047000-103061400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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