Variant report

Variant	nsv614856
Chromosome Location	chr9:93603814-93604529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93603689..93605375-chr9:93607023..93609459,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIRAS2-9	chr9:93604142-93604223	NONHSAT133101
2	lnc-DIRAS2-9	chr9:93603594-93604087	NONHSAT133101

Extended variants
information (count: 54 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199668251	chr9:93603819-93603820	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs141069100	chr9:93603839-93603840	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs56651623	chr9:93603841-93603842	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs200948975	chr9:93603853-93603854	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs538091460	chr9:93603868-93603869	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs577596699	chr9:93603871-93603872	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs569161164	chr9:93603882-93603883	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs367757846	chr9:93603888-93603889	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs370457761	chr9:93603942-93603943	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs538215717	chr9:93603995-93603996	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs539559859	chr9:93604028-93604029	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs554920279	chr9:93604041-93604042	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs568400884	chr9:93604071-93604072	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs201241690	chr9:93604073-93604074	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs201077137	chr9:93604097-93604098	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs147288425	chr9:93604123-93604124	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs56651618	chr9:93604129-93604130	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs371323710	chr9:93604141-93604142	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs115841024	chr9:93604148-93604149	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs369931338	chr9:93604152-93604153	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs200278720	chr9:93604155-93604156	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs545153253	chr9:93604175-93604176	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs28972166	chr9:93604190-93604191	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs554058358	chr9:93604194-93604195	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs576961536	chr9:93604200-93604201	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs199597142	chr9:93604221-93604222	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs545581651	chr9:93604235-93604236	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs200756020	chr9:93604245-93604246	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs111063816	chr9:93604248-93604249	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs62636723	chr9:93604252-93604253	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs201825183	chr9:93604254-93604255	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs117984563	chr9:93604255-93604256	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs373767616	chr9:93604264-93604265	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs374859515	chr9:93604267-93604268	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs561325109	chr9:93604270-93604271	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs111066140	chr9:93604276-93604277	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs147790354	chr9:93604292-93604293	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs111162739	chr9:93604323-93604324	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs557527035	chr9:93604330-93604331	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs201926711	chr9:93604331-93604332	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs149321121	chr9:93604333-93604334	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs560529764	chr9:93604353-93604354	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs117895582	chr9:93604377-93604378	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs532692548	chr9:93604382-93604383	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs552412568	chr9:93604396-93604397	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs111207156	chr9:93604402-93604403	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs531827606	chr9:93604417-93604418	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs548632185	chr9:93604418-93604419	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs368254557	chr9:93604443-93604444	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs568464487	chr9:93604459-93604460	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93565000-93609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:93577800-93606200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:93585600-93607800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:93589200-93606000	Weak transcription	Colonic Mucosa	Colon
5	chr9:93595800-93606600	Weak transcription	Stomach Mucosa	stomach
6	chr9:93596000-93607600	Weak transcription	Fetal Intestine Large	intestine
7	chr9:93598200-93606600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:93599200-93616600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:93600200-93606400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr9:93600200-93613800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:93601600-93604800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:93601800-93642200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:93602000-93606600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr9:93602200-93604200	Weak transcription	Thymus	Thymus
15	chr9:93602200-93605400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:93602400-93604200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr9:93602400-93606000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:93602600-93604400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:93602600-93604600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr9:93602600-93606000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:93602600-93606000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr9:93602600-93606000	Weak transcription	Fetal Intestine Small	intestine
23	chr9:93602600-93609200	Weak transcription	Right Ventricle	heart
24	chr9:93602800-93604400	Weak transcription	Fetal Thymus	thymus
25	chr9:93602800-93604800	Strong transcription	Primary B cells from cord blood	blood
26	chr9:93602800-93605400	Weak transcription	Fetal Stomach	stomach
27	chr9:93603200-93604600	Genic enhancers	Esophagus	oesophagus
28	chr9:93603200-93604800	ZNF genes & repeats	NHEK	skin
29	chr9:93603200-93605000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:93603200-93605000	ZNF genes & repeats	Fetal Kidney	kidney
31	chr9:93603200-93605000	Enhancers	Pancreas	Pancrea
32	chr9:93603200-93605400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr9:93603200-93605600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr9:93603400-93604000	Strong transcription	K562	blood
35	chr9:93603400-93604400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr9:93603400-93604600	Enhancers	Primary B cells from peripheral blood	blood
37	chr9:93603400-93604800	Genic enhancers	Spleen	Spleen
38	chr9:93603600-93604000	Genic enhancers	Gastric	stomach
39	chr9:93603600-93604800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
40	chr9:93603600-93605000	Active TSS	Fetal Lung	lung
41	chr9:93603600-93605400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr9:93603800-93604200	Enhancers	GM12878-XiMat	blood
43	chr9:93603800-93604600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr9:93603800-93604800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr9:93603800-93605000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr9:93604000-93604600	Enhancers	Gastric	stomach
47	chr9:93604000-93605000	Genic enhancers	K562	blood
48	chr9:93604200-93604400	Flanking Active TSS	GM12878-XiMat	blood
49	chr9:93604200-93604600	Active TSS	Fetal Brain Male	brain
50	chr9:93604200-93605000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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