Variant report

Variant	nsv526315
Chromosome Location	chr9:14347811-14362390
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:16)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:14322617..14324205-chr9:14354541..14356669,2	K562	blood:
2	chr9:14328719..14331572-chr9:14351154..14352744,2	MCF-7	breast:
3	chr11:62494308..62497111-chr9:14355133..14357775,2	MCF-7	breast:
4	chr9:14068409..14069339-chr9:14353177..14354100,3	K562	blood:
5	chr9:14353166..14353963-chr9:14428552..14429264,2	K562	blood:
6	chr9:14312742..14317142-chr9:14351600..14355327,7	MCF-7	breast:
7	chr9:14351764..14354582-chr9:14354595..14356619,2	MCF-7	breast:
8	chr9:14321896..14324157-chr9:14348528..14353248,4	K562	blood:
9	chr9:14321402..14324664-chr9:14357484..14361641,4	K562	blood:
10	chr9:14320247..14323923-chr9:14351044..14354091,4	MCF-7	breast:
11	chr9:14351764..14354582-chr9:14354595..14356619,2	MCF-7	breast:
12	chr9:13351598..13352233-chr9:14353302..14354081,2	MCF-7	breast:
13	chr9:14314923..14316806-chr9:14350655..14353274,2	MCF-7	breast:
14	chr9:14312756..14315327-chr9:14353446..14357792,5	MCF-7	breast:
15	chr9:14322189..14324402-chr9:14349942..14354025,4	MCF-7	breast:
16	chr9:14321896..14323579-chr9:14349753..14351283,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf146-2	chr9:14357151-14358086	NONHSAT130244
2	lnc-C9orf146-2	chr9:14357151-14357907	ENSG00000225472.1
3	lnc-C9orf146-2	chr9:14347151-14347907	NONHSAT130245
4	lnc-C9orf146-2	chr9:14357151-14357853	ENSG00000225472.1

No data

Variant related genes	Relation type
ENSG00000225472	chromatin interactions
ENSG00000162222	chromatin interactions
ENSG00000234857	chromatin interactions
ENSG00000213954	chromatin interactions
ENSG00000147862	chromatin interactions
ENSG00000214753	chromatin interactions

Extended variants
information (count: 604 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:604 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs877571	chr9:14347811-14347812	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186773501	chr9:14347820-14347821	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs572501533	chr9:14347850-14347851	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs114067197	chr9:14347865-14347866	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs557961947	chr9:14347869-14347870	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs192406481	chr9:14347879-14347880	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs531967372	chr9:14347884-14347885	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs543391024	chr9:14347894-14347895	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs563377473	chr9:14347912-14347913	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs573718557	chr9:14347922-14347923	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs552180308	chr9:14347936-14347937	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542509439	chr9:14347948-14347949	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs151310350	chr9:14347952-14347953	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528262498	chr9:14347972-14347973	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs567654257	chr9:14347973-14347974	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs111799215	chr9:14347995-14347996	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564948488	chr9:14348006-14348007	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs571822375	chr9:14348014-14348015	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs73417793	chr9:14348081-14348082	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550713369	chr9:14348090-14348091	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs373633628	chr9:14348130-14348131	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs576579668	chr9:14348154-14348155	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs557231032	chr9:14348167-14348168	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs377036837	chr9:14348195-14348196	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs536249064	chr9:14348198-14348199	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs140556807	chr9:14348206-14348207	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs115810763	chr9:14348227-14348228	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566404307	chr9:14348242-14348243	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs547091301	chr9:14348306-14348307	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs534904920	chr9:14348323-14348324	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs567859995	chr9:14348329-14348330	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs564597414	chr9:14348337-14348338	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs5896629	chr9:14348338-14348339	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs397723623	chr9:14348349-14348350	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs62532792	chr9:14348352-14348353	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs571391998	chr9:14348368-14348369	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs535293059	chr9:14348372-14348373	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs877570	chr9:14348384-14348385	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573657089	chr9:14348390-14348391	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs543047018	chr9:14348393-14348394	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs552986924	chr9:14348409-14348410	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs573117771	chr9:14348425-14348426	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs117746190	chr9:14348432-14348433	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs117904142	chr9:14348461-14348462	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs538770255	chr9:14348486-14348487	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs545051382	chr9:14348488-14348489	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs60978243	chr9:14348532-14348533	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555188120	chr9:14348555-14348556	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs183441482	chr9:14348557-14348558	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs877569	chr9:14348563-14348564	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD

Chromatin state (count:751 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14343800-14350800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr9:14343800-14351000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:14344000-14348600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr9:14344000-14349200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr9:14344200-14348200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr9:14344600-14350800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr9:14345000-14349000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr9:14345000-14349000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr9:14345400-14350000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:14345600-14349000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
11	chr9:14345600-14351000	Active TSS	Right Atrium	heart
12	chr9:14345800-14348000	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr9:14345800-14348200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:14345800-14349000	Bivalent Enhancer	Fetal Thymus	thymus
15	chr9:14345800-14350000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
16	chr9:14345800-14350200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
17	chr9:14346000-14348200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr9:14346000-14348200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr9:14346000-14348400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:14346000-14349000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr9:14346000-14350000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
22	chr9:14346200-14348000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:14346200-14350400	Active TSS	Brain Substantia Nigra	brain
24	chr9:14346200-14350800	Active TSS	Brain Hippocampus Middle	brain
25	chr9:14346400-14348400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
26	chr9:14346400-14349400	Active TSS	Esophagus	oesophagus
27	chr9:14346600-14348000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:14346600-14348000	Bivalent/Poised TSS	NHLF	lung
29	chr9:14346600-14348200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
30	chr9:14346600-14349000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr9:14346600-14350000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
32	chr9:14346600-14350600	Flanking Bivalent TSS/Enh	NHEK	skin
33	chr9:14346600-14350800	Active TSS	Psoas Muscle	Psoas
34	chr9:14346800-14348600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
35	chr9:14346800-14349800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:14346800-14349800	Flanking Active TSS	HUVEC	blood vessel
37	chr9:14346800-14350200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr9:14346800-14351000	Active TSS	Aorta	Aorta
39	chr9:14347000-14348000	Flanking Active TSS	Liver	Liver
40	chr9:14347000-14348200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr9:14347000-14348200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:14347000-14348400	Active TSS	Fetal Heart	heart
43	chr9:14347000-14348400	Bivalent/Poised TSS	Placenta	Placenta
44	chr9:14347000-14348600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
45	chr9:14347000-14348600	Active TSS	Fetal Brain Female	brain
46	chr9:14347000-14348800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr9:14347000-14349200	Active TSS	Left Ventricle	heart
48	chr9:14347000-14349400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:14347000-14349600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:14347200-14348000	Bivalent/Poised TSS	HSMM	muscle

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