Variant report

Variant	nsv818710
Chromosome Location	chr9:85834312-85835108
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:85834621..85835782-chr9:86211520..86212262,3	MCF-7	breast:
2	chr9:85576162..85576940-chr9:85834338..85835195,3	MCF-7	breast:
3	chr9:85818705..85819261-chr9:85834295..85835039,2	MCF-7	breast:
4	chr9:85835103..85836718-chr9:85854833..85857039,2	MCF-7	breast:
5	chr9:85834296..85835171-chr9:85845740..85846677,8	MCF-7	breast:
6	chr9:85834525..85835178-chr9:86153175..86154166,3	MCF-7	breast:
7	chr9:85832727..85836639-chr9:86319596..86323973,3	MCF-7	breast:
8	chr9:85834318..85834922-chr9:85942136..85942786,2	MCF-7	breast:
9	chr9:85813794..85816602-chr9:85833659..85835490,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf103-3	chr9:85834099-85834325	NONHSAT132732

No data

Variant related genes	Relation type
ENSG00000172159	chromatin interactions
ENSG00000135018	chromatin interactions
ENSG00000254473	chromatin interactions
ENSG00000251776	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11139975	chr9:85834312-85834313	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1408101	chr9:85834349-85834350	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs549419848	chr9:85834356-85834357	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs1408102	chr9:85834374-85834375	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs530225314	chr9:85834402-85834403	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs570695395	chr9:85834406-85834407	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs76108575	chr9:85834493-85834494	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs567133546	chr9:85834528-85834529	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs534260366	chr9:85834538-85834539	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs186228255	chr9:85834600-85834601	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs1408103	chr9:85834617-85834618	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs72743016	chr9:85834645-85834646	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs556650856	chr9:85834693-85834694	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs192030099	chr9:85834699-85834700	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs535641837	chr9:85834704-85834705	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs553711799	chr9:85834718-85834719	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs12237222	chr9:85834743-85834744	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs545753361	chr9:85834754-85834755	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs375446277	chr9:85834790-85834791	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs564410210	chr9:85834793-85834794	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs62560444	chr9:85834805-85834806	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543054604	chr9:85834809-85834810	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs79869824	chr9:85834837-85834838	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs183349044	chr9:85834894-85834895	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs75179094	chr9:85834948-85834949	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs550830542	chr9:85835028-85835029	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs560444415	chr9:85835029-85835030	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs199694146	chr9:85835034-85835035	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs188538558	chr9:85835050-85835051	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs552545691	chr9:85835076-85835077	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs10114830	chr9:85835108-85835109	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:66)

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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	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
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85833600-85834800	Active TSS	A549	lung
2	chr9:85833600-85835000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr9:85833600-85835600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr9:85833800-85834800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:85833800-85834800	Active TSS	NHEK	skin
6	chr9:85833800-85835000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:85833800-85835000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
8	chr9:85833800-85835000	Active TSS	Lung	lung
9	chr9:85833800-85835000	Active TSS	Pancreas	Pancrea
10	chr9:85833800-85835200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:85834000-85834400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:85834000-85834400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr9:85834000-85834400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr9:85834000-85834400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
15	chr9:85834000-85834400	Flanking Active TSS	HMEC	breast
16	chr9:85834000-85834400	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr9:85834000-85834600	Active TSS	HSMM	muscle
18	chr9:85834000-85834800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:85834000-85834800	Active TSS	Primary B cells from cord blood	blood
20	chr9:85834000-85834800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr9:85834000-85834800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:85834000-85834800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:85834000-85834800	Active TSS	Aorta	Aorta
24	chr9:85834000-85834800	Active TSS	Brain Angular Gyrus	brain
25	chr9:85834000-85834800	Active TSS	Brain Hippocampus Middle	brain
26	chr9:85834000-85834800	Active TSS	Duodenum Mucosa	Duodenum
27	chr9:85834000-85834800	Active TSS	Esophagus	oesophagus
28	chr9:85834000-85834800	Active TSS	Fetal Brain Female	brain
29	chr9:85834000-85834800	Active TSS	Fetal Lung	lung
30	chr9:85834000-85834800	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr9:85834000-85834800	Active TSS	HepG2	liver
32	chr9:85834000-85834800	Active TSS	NHDF-Ad	bronchial
33	chr9:85834000-85834800	Active TSS	Osteobl	bone
34	chr9:85834000-85835000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:85834000-85835000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:85834000-85835000	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr9:85834000-85835000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr9:85834000-85835000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:85834000-85835000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr9:85834000-85835000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:85834000-85835000	Active TSS	Brain Anterior Caudate	brain
42	chr9:85834000-85835000	Active TSS	Brain Cingulate Gyrus	brain
43	chr9:85834000-85835000	Active TSS	Fetal Intestine Large	intestine
44	chr9:85834000-85835000	Active TSS	Fetal Intestine Small	intestine
45	chr9:85834000-85835000	Active TSS	Fetal Kidney	kidney
46	chr9:85834000-85835000	Active TSS	Fetal Stomach	stomach
47	chr9:85834000-85835000	Active TSS	Left Ventricle	heart
48	chr9:85834000-85835000	Active TSS	Ovary	ovary
49	chr9:85834000-85835000	Active TSS	Psoas Muscle	Psoas
50	chr9:85834000-85835000	Active TSS	Rectal Mucosa Donor 29	rectum

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