Variant report

Variant	nsv6635
Chromosome Location	chr9:101728257-101773253
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:107)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:107 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:101558272..101559220-chr9:101736911..101737494,2	K562	blood:
2	chr9:101764079..101766905-chr9:101863194..101865168,2	MCF-7	breast:
3	chr9:101762316..101762978-chr9:101904959..101905498,2	MCF-7	breast:
4	chr9:101720615..101722589-chr9:101727463..101729962,2	K562	blood:
5	chr9:101760174..101763909-chr9:101764160..101767138,3	K562	blood:
6	chr9:101611820..101612398-chr9:101760720..101761431,2	K562	blood:
7	chr9:101736911..101737434-chr9:101946524..101947493,2	K562	blood:
8	chr9:101757566..101760026-chr9:101844039..101846861,2	K562	blood:
9	chr9:101610494..101611086-chr9:101737039..101737648,2	MCF-7	breast:
10	chr9:101737367..101739848-chr9:101767863..101770116,2	K562	blood:
11	chr9:101715741..101718896-chr9:101727894..101730962,3	K562	blood:
12	chr9:101736884..101738167-chr9:101760897..101761815,6	MCF-7	breast:
13	chr9:101730419..101734076-chr9:101735799..101737834,3	MCF-7	breast:
14	chr9:101746248..101748364-chr9:101750240..101752168,2	MCF-7	breast:
15	chr9:101610634..101611514-chr9:101760908..101761782,4	MCF-7	breast:
16	chr9:101730419..101734076-chr9:101735799..101737834,3	MCF-7	breast:
17	chr9:101744002..101749570-chr9:101754118..101758389,6	K562	blood:
18	chr9:101746248..101748364-chr9:101750240..101752168,2	MCF-7	breast:
19	chr9:101739430..101741862-chr9:101743138..101745419,2	K562	blood:
20	chr9:101757461..101761274-chr9:101835859..101838201,6	K562	blood:
21	chr9:101549472..101553559-chr9:101729107..101732873,3	K562	blood:
22	chr9:101737274..101737781-chr9:101751651..101752235,2	MCF-7	breast:
23	chr9:101760174..101763909-chr9:101764160..101767138,3	K562	blood:
24	chr9:101722773..101724944-chr9:101737231..101739969,2	K562	blood:
25	chr9:101737274..101737781-chr9:101751651..101752235,2	MCF-7	breast:
26	chr9:101744002..101749570-chr9:101754118..101758389,6	K562	blood:
27	chr9:101725948..101728379-chr9:101730817..101734324,5	K562	blood:
28	chr9:101594248..101597008-chr9:101735799..101737374,2	K562	blood:
29	chr9:101732694..101735644-chr9:101742746..101744409,2	MCF-7	breast:
30	chr9:101755503..101758615-chr9:101759001..101763298,4	K562	blood:
31	chr9:101734796..101736324-chr9:101740072..101741805,2	MCF-7	breast:
32	chr9:101736884..101738167-chr9:101760897..101761815,6	MCF-7	breast:
33	chr9:101762734..101763562-chr9:101904143..101904831,2	MCF-7	breast:
34	chr9:101739430..101741862-chr9:101743138..101745419,2	K562	blood:
35	chr9:101742011..101744498-chr9:101748952..101750643,2	MCF-7	breast:
36	chr9:101571089..101573557-chr9:101759747..101761480,2	MCF-7	breast:
37	chr9:101747587..101749233-chr9:101899420..101901955,2	K562	blood:
38	chr9:101762134..101763385-chr9:101902694..101903814,11	K562	blood:
39	chr9:101610013..101612448-chr9:101759740..101762487,2	MCF-7	breast:
40	chr9:101622815..101623852-chr9:101760749..101761771,5	MCF-7	breast:
41	chr9:101751301..101751815-chr9:101902700..101903663,2	MCF-7	breast:
42	chr9:101755503..101758615-chr9:101759001..101763298,4	K562	blood:
43	chr9:101736926..101737820-chr9:101760843..101761915,4	MCF-7	breast:
44	chr9:101622816..101623807-chr9:101760819..101761758,4	K562	blood:
45	chr9:101751752..101752252-chr9:101761082..101761595,2	MCF-7	breast:
46	chr9:101724200..101725970-chr9:101733611..101735855,2	MCF-7	breast:
47	chr9:101757196..101759132-chr9:101866290..101869217,2	K562	blood:
48	chr9:101768904..101771612-chr9:101836295..101838610,2	K562	blood:
49	chr9:101747842..101750157-chr9:101758155..101760265,2	MCF-7	breast:
50	chr9:101736926..101737820-chr9:101760843..101761915,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106799	chromatin interactions
ENSG00000165138	chromatin interactions
ENSG00000119514	chromatin interactions
ENSG00000267026	chromatin interactions

Extended variants
information (count: 1796 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1796 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2416663	chr9:101728264-101728265	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149899323	chr9:101728372-101728373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369428886	chr9:101728424-101728425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1889265	chr9:101728521-101728522	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536484635	chr9:101728524-101728525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556673124	chr9:101728546-101728547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576657740	chr9:101728562-101728563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538648481	chr9:101728576-101728577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144911878	chr9:101728577-101728578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572606047	chr9:101728602-101728603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541734880	chr9:101728603-101728604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561114648	chr9:101728631-101728632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78895325	chr9:101728680-101728681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567437377	chr9:101728743-101728744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370796145	chr9:101728757-101728758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543652481	chr9:101728773-101728774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534827042	chr9:101728839-101728840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562232020	chr9:101728864-101728865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531443044	chr9:101728866-101728867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs55890178	chr9:101728930-101728931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564916886	chr9:101728936-101728937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184151902	chr9:101728968-101728969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547699224	chr9:101729025-101729026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567593820	chr9:101729032-101729033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188651595	chr9:101729053-101729054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536441440	chr9:101729061-101729062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550046872	chr9:101729067-101729068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2151616	chr9:101729103-101729104	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs80092571	chr9:101729155-101729156	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs4743299	chr9:101729174-101729175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570888966	chr9:101729232-101729233	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs368291277	chr9:101729235-101729236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371134565	chr9:101729236-101729237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs4743300	chr9:101729239-101729240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs554836141	chr9:101729276-101729277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs12002387	chr9:101729288-101729289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182094414	chr9:101729291-101729292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs186777706	chr9:101729298-101729299	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs140790513	chr9:101729299-101729300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560472775	chr9:101729310-101729311	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576022799	chr9:101729415-101729416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7040508	chr9:101729422-101729423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545111377	chr9:101729519-101729520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs191907469	chr9:101729554-101729555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs145188250	chr9:101729577-101729578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541067791	chr9:101729581-101729582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs373578033	chr9:101729582-101729583	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs542650142	chr9:101729592-101729593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs138994032	chr9:101729596-101729597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs34044155	chr9:101729620-101729621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1485 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101720000-101730000	Enhancers	Adipose Nuclei	Adipose
2	chr9:101720400-101730200	Enhancers	Fetal Stomach	stomach
3	chr9:101722200-101737200	Weak transcription	Gastric	stomach
4	chr9:101722400-101733400	Enhancers	Rectal Smooth Muscle	rectum
5	chr9:101722800-101728800	Enhancers	Left Ventricle	heart
6	chr9:101723600-101729800	Enhancers	Fetal Muscle Leg	muscle
7	chr9:101724000-101736200	Weak transcription	Pancreas	Pancrea
8	chr9:101724400-101729600	Weak transcription	Lung	lung
9	chr9:101724400-101731800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:101724400-101733800	Weak transcription	Colonic Mucosa	Colon
11	chr9:101725000-101728600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr9:101725600-101733400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:101725600-101734000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr9:101725800-101730800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:101725800-101733200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr9:101726200-101732200	Weak transcription	Fetal Heart	heart
17	chr9:101726400-101729200	Enhancers	Colon Smooth Muscle	Colon
18	chr9:101727000-101728800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr9:101727000-101729000	Enhancers	Right Ventricle	heart
20	chr9:101727000-101729800	Enhancers	Fetal Muscle Trunk	muscle
21	chr9:101727400-101733000	Weak transcription	Esophagus	oesophagus
22	chr9:101727600-101728800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr9:101727600-101733400	Weak transcription	Ovary	ovary
24	chr9:101727800-101728800	Weak transcription	Stomach Mucosa	stomach
25	chr9:101728000-101729400	Weak transcription	Placenta	Placenta
26	chr9:101728000-101729600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:101728000-101729800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:101728000-101730000	Weak transcription	Right Atrium	heart
29	chr9:101728000-101733200	Weak transcription	NHDF-Ad	bronchial
30	chr9:101728000-101749400	Weak transcription	Aorta	Aorta
31	chr9:101728200-101729400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr9:101728200-101729800	Enhancers	Stomach Smooth Muscle	stomach
33	chr9:101728200-101733000	Weak transcription	HSMMtube	muscle
34	chr9:101728600-101729000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr9:101728800-101731000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr9:101728800-101733400	Weak transcription	Left Ventricle	heart
37	chr9:101728800-101733400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr9:101729000-101729400	Weak transcription	Right Ventricle	heart
39	chr9:101729000-101729800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr9:101729200-101729600	Weak transcription	Colon Smooth Muscle	Colon
41	chr9:101729400-101730000	Enhancers	Placenta	Placenta
42	chr9:101729400-101730000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr9:101729400-101730800	Enhancers	Right Ventricle	heart
44	chr9:101729600-101729800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:101729600-101729800	Enhancers	Lung	lung
46	chr9:101729600-101731200	Enhancers	Colon Smooth Muscle	Colon
47	chr9:101729800-101730000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:101729800-101730000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr9:101729800-101730000	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr9:101729800-101730200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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