Variant report

Variant	nsv968581
Chromosome Location	chr9:86246061-86249172
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:86244611..86247023-chr9:86320465..86322962,2	MCF-7	breast:
2	chr9:86248086..86250305-chr9:86262008..86265514,3	MCF-7	breast:
3	chr9:86244110..86246714-chr9:86535414..86538304,2	K562	blood:
4	chr9:86235832..86238192-chr9:86245437..86248685,3	K562	blood:
5	chr9:86249075..86251124-chr9:86419195..86422058,2	K562	blood:
6	chr9:86241062..86243617-chr9:86248330..86250163,2	K562	blood:
7	chr9:86247178..86252278-chr9:86254565..86260519,7	MCF-7	breast:
8	chr9:86247034..86248660-chr9:86250680..86252326,2	K562	blood:
9	chr9:86245520..86247823-chr9:86535695..86537836,2	MCF-7	breast:
10	chr9:86248664..86251363-chr9:86251483..86253533,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000148057	chromatin interactions
ENSG00000165115	chromatin interactions
ENSG00000135018	chromatin interactions
ENSG00000254473	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74350486	chr9:86246062-86246063	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs113864649	chr9:86246090-86246091	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs375484451	chr9:86246130-86246131	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs553658360	chr9:86246147-86246148	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs58827033	chr9:86246151-86246152	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs369489296	chr9:86246272-86246273	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs10780619	chr9:86246311-86246312	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs12347326	chr9:86246355-86246356	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs114820397	chr9:86246358-86246359	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs57832482	chr9:86246382-86246383	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs60063507	chr9:86246385-86246386	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs563820599	chr9:86246386-86246387	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs547146024	chr9:86246420-86246421	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs59649332	chr9:86246483-86246484	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146315406	chr9:86246518-86246519	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs138200620	chr9:86246557-86246558	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs560941893	chr9:86246597-86246598	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs377177456	chr9:86246621-86246622	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs528261560	chr9:86246675-86246676	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs10780620	chr9:86246695-86246696	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs373227557	chr9:86246711-86246712	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs571167609	chr9:86246718-86246719	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs11140184	chr9:86246732-86246733	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550155915	chr9:86246788-86246789	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs142884780	chr9:86246832-86246833	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs535948046	chr9:86246833-86246834	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs61741464	chr9:86246859-86246860	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs113684141	chr9:86246884-86246885	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs397709660	chr9:86246894-86246895	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs116064435	chr9:86246922-86246923	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs535190707	chr9:86246938-86246939	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs553746008	chr9:86246944-86246945	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs57786992	chr9:86246966-86246967	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545448024	chr9:86246967-86246968	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs557377838	chr9:86246977-86246978	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs2780974	chr9:86246984-86246985	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538555170	chr9:86246987-86246988	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs373717708	chr9:86247002-86247003	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs3750411	chr9:86247034-86247035	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs3750410	chr9:86247059-86247060	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs3750409	chr9:86247074-86247075	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs544516469	chr9:86247107-86247108	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs112007392	chr9:86247217-86247218	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs113516190	chr9:86247239-86247240	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs540027455	chr9:86247281-86247282	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs564880530	chr9:86247282-86247283	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs112589613	chr9:86247285-86247286	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs2811908	chr9:86247287-86247288	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs550192657	chr9:86247307-86247308	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs553630036	chr9:86247326-86247327	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86238600-86265000	Weak transcription	Ovary	ovary
2	chr9:86238800-86254600	Weak transcription	Left Ventricle	heart
3	chr9:86238800-86260600	Weak transcription	Right Ventricle	heart
4	chr9:86238800-86264600	Weak transcription	Psoas Muscle	Psoas
5	chr9:86239000-86250000	Weak transcription	HSMMtube	muscle
6	chr9:86239000-86264800	Weak transcription	HMEC	breast
7	chr9:86239000-86265200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr9:86239200-86261000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:86239400-86248000	Weak transcription	NHDF-Ad	bronchial
10	chr9:86239400-86254400	Weak transcription	Brain Anterior Caudate	brain
11	chr9:86239400-86254400	Weak transcription	Brain Substantia Nigra	brain
12	chr9:86239400-86266200	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:86239400-86266400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr9:86239600-86260800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr9:86239600-86260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:86239600-86265000	Weak transcription	HUVEC	blood vessel
17	chr9:86239600-86266600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr9:86239600-86272200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr9:86239800-86266800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr9:86240200-86265000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr9:86240400-86254600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr9:86242200-86256600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr9:86242400-86253800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr9:86242400-86257000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr9:86242400-86264800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr9:86242600-86265000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr9:86243200-86260800	Weak transcription	Primary B cells from cord blood	blood
28	chr9:86243200-86261000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr9:86243200-86269600	Weak transcription	Pancreas	Pancrea
30	chr9:86243600-86264800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr9:86243600-86266200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr9:86244000-86246600	Enhancers	Placenta	Placenta
33	chr9:86244000-86260600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr9:86244000-86260800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr9:86244200-86264600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr9:86244400-86246400	Enhancers	Fetal Intestine Small	intestine
37	chr9:86244400-86254200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:86244400-86262200	Weak transcription	A549	lung
39	chr9:86244400-86264600	Weak transcription	NHLF	lung
40	chr9:86244600-86246400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:86244600-86257600	Weak transcription	Lung	lung
42	chr9:86244600-86257800	Weak transcription	Primary T cells from cord blood	blood
43	chr9:86244600-86258000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:86244600-86260000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:86244600-86260200	Weak transcription	NHEK	skin
46	chr9:86244800-86254400	Weak transcription	HSMM	muscle
47	chr9:86244800-86258200	Weak transcription	GM12878-XiMat	blood
48	chr9:86244800-86260400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:86244800-86260800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr9:86244800-86261200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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