Variant report

Variant	nsv614935
Chromosome Location	chr9:100861387-100876284
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100873048..100875897-chr9:100904361..100905937,2	K562	blood:
2	chr9:100862346..100865171-chr9:100880500..100883017,2	K562	blood:
3	chr9:100858708..100861627-chr9:100861648..100863594,2	MCF-7	breast:
4	chr9:100817590..100820574-chr9:100860322..100862706,3	K562	blood:
5	chr9:100861454..100863501-chr9:100865367..100867490,2	MCF-7	breast:
6	chr9:100866980..100869660-chr9:100895040..100897583,2	MCF-7	breast:
7	chr9:100860467..100862654-chr9:100943409..100946106,2	K562	blood:
8	chr9:100865376..100868283-chr9:100880177..100883059,2	MCF-7	breast:
9	chr9:100860198..100865318-chr9:100878989..100883996,6	MCF-7	breast:
10	chr9:100869788..100872566-chr9:100879109..100880868,2	K562	blood:
11	chr9:100875648..100877931-chr9:100888292..100890427,2	K562	blood:
12	chr9:100854857..100858216-chr9:100859815..100862385,4	K562	blood:
13	chr9:100869969..100873006-chr9:100874789..100878680,3	K562	blood:
14	chr9:100848562..100851460-chr9:100859656..100862171,2	MCF-7	breast:
15	chr9:100864402..100866260-chr9:100880228..100882375,2	K562	blood:
16	chr9:100869969..100873006-chr9:100874789..100878680,3	K562	blood:
17	chr9:100684128..100686572-chr9:100861650..100863444,2	K562	blood:
18	chr9:100865961..100868897-chr9:100875426..100877165,2	MCF-7	breast:
19	chr17:59915399..59917132-chr9:100865983..100868318,2	MCF-7	breast:
20	chr9:100858708..100861627-chr9:100861648..100863594,2	MCF-7	breast:
21	chr9:100870310..100872632-chr9:100879398..100881692,3	MCF-7	breast:
22	chr9:100861454..100863501-chr9:100865367..100867490,2	MCF-7	breast:
23	chr9:100865961..100868897-chr9:100875426..100877165,2	MCF-7	breast:
24	chr9:100855944..100858108-chr9:100861699..100863538,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136932	chromatin interactions
ENSG00000106785	chromatin interactions
ENSG00000095380	chromatin interactions

Extended variants
information (count: 575 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10985045	chr9:100861387-100861388	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138681727	chr9:100861453-100861454	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544146102	chr9:100861505-100861506	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs564118762	chr9:100861506-100861507	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374953455	chr9:100861539-100861540	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs533205149	chr9:100861707-100861708	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs374803845	chr9:100861735-100861736	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs74874824	chr9:100861738-100861739	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs547037852	chr9:100861748-100861749	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs200348891	chr9:100861757-100861758	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs188435235	chr9:100861792-100861793	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs560405387	chr9:100861802-100861803	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs141088335	chr9:100861821-100861822	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs549609283	chr9:100861909-100861910	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs35949857	chr9:100861984-100861985	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs143823768	chr9:100861993-100861994	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs568114747	chr9:100862029-100862030	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs538538542	chr9:100862050-100862051	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs573680409	chr9:100862076-100862077	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs148155160	chr9:100862144-100862145	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs570391192	chr9:100862147-100862148	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs112727543	chr9:100862206-100862207	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs144080135	chr9:100862234-100862235	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs375983980	chr9:100862235-100862236	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs200179824	chr9:100862272-100862273	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs199641111	chr9:100862315-100862316	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs147144578	chr9:100862337-100862338	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs35830621	chr9:100862339-100862340	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371858991	chr9:100862369-100862370	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs199771092	chr9:100862378-100862379	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs373631177	chr9:100862381-100862382	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs138954236	chr9:100862408-100862409	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs368658528	chr9:100862453-100862454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs544086305	chr9:100862466-100862467	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs373436240	chr9:100862473-100862474	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs78700906	chr9:100862489-100862490	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs577942690	chr9:100862507-100862508	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs540271766	chr9:100862527-100862528	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs560596082	chr9:100862528-100862529	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs146321647	chr9:100862541-100862542	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs543193850	chr9:100862601-100862602	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs180906275	chr9:100862630-100862631	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs531954751	chr9:100862631-100862632	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs114135954	chr9:100862657-100862658	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs565649177	chr9:100862678-100862679	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs571848303	chr9:100862690-100862691	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs539340265	chr9:100862762-100862763	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs117583344	chr9:100862783-100862784	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs114994491	chr9:100862797-100862798	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs557579861	chr9:100862810-100862811	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100839400-100861800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr9:100846000-100862600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr9:100846200-100862200	Strong transcription	Duodenum Mucosa	Duodenum
4	chr9:100847400-100869400	Weak transcription	A549	lung
5	chr9:100847600-100867000	Weak transcription	Hela-S3	cervix
6	chr9:100850400-100868000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:100850400-100880400	Weak transcription	HSMM	muscle
8	chr9:100850600-100863000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:100850600-100864400	Weak transcription	Brain Germinal Matrix	brain
10	chr9:100850600-100875400	Weak transcription	NHLF	lung
11	chr9:100850600-100880600	Weak transcription	Fetal Lung	lung
12	chr9:100851000-100862800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr9:100852000-100861600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:100853000-100862400	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr9:100853200-100862000	Strong transcription	Dnd41	blood
16	chr9:100853400-100861800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr9:100853600-100861800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
18	chr9:100854400-100862000	Strong transcription	Fetal Intestine Large	intestine
19	chr9:100854600-100870800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr9:100854800-100863800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:100854800-100870800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:100855000-100862000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr9:100855000-100864400	Weak transcription	Brain Angular Gyrus	brain
24	chr9:100855000-100866800	Weak transcription	Placenta	Placenta
25	chr9:100855000-100868200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr9:100855200-100862000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr9:100855200-100864400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr9:100855200-100864400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:100855400-100862000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr9:100855600-100864000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr9:100855600-100864400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr9:100856200-100861800	Strong transcription	Spleen	Spleen
33	chr9:100856400-100862000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr9:100856400-100862400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr9:100856600-100862400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:100856600-100862400	Strong transcription	Fetal Stomach	stomach
37	chr9:100856800-100861600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr9:100856800-100861800	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr9:100857000-100862400	Genic enhancers	Fetal Thymus	thymus
40	chr9:100857200-100862400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:100857800-100869400	Weak transcription	Left Ventricle	heart
42	chr9:100858000-100861600	Weak transcription	Stomach Mucosa	stomach
43	chr9:100858000-100862000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr9:100858000-100862000	Weak transcription	Small Intestine	intestine
45	chr9:100858000-100862200	Weak transcription	Adipose Nuclei	Adipose
46	chr9:100858200-100868000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr9:100858200-100869000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr9:100858400-100872000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr9:100858600-100866400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr9:100858600-100880400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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