Variant report

Variant	nsv1049740
Chromosome Location	chr9:104049624-104075825
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:103476522..103477341-chr9:104073801..104074438,2	MCF-7	breast:
2	chr9:103364791..103365296-chr9:104073724..104074625,2	K562	blood:
3	chr9:103363137..103364168-chr9:104073197..104074607,7	K562	blood:
4	chr9:103988903..103989790-chr9:104073704..104074549,2	K562	blood:
5	chr9:104068294..104070576-chr9:104071673..104073236,2	MCF-7	breast:
6	chr9:103881236..103882233-chr9:104073706..104074558,3	K562	blood:
7	chr9:104069628..104072510-chr9:104073819..104075636,2	MCF-7	breast:
8	chr9:103881294..103882107-chr9:104073696..104074727,3	MCF-7	breast:
9	chr9:103363061..103364025-chr9:104073627..104074488,4	MCF-7	breast:
10	chr9:104058011..104060802-chr9:104064311..104066132,2	K562	blood:
11	chr9:103364305..103365019-chr9:104073743..104074587,4	MCF-7	breast:
12	chr9:104068294..104070576-chr9:104071673..104073236,2	MCF-7	breast:
13	chr9:103364235..103365012-chr9:104074061..104074764,2	MCF-7	breast:
14	chr9:104058011..104060802-chr9:104064311..104066132,2	K562	blood:
15	chr9:103463011..103463627-chr9:104072026..104072868,2	MCF-7	breast:
16	chr9:104018589..104020480-chr9:104063589..104065915,2	K562	blood:
17	chr9:103362677..103364065-chr9:104073640..104074719,9	MCF-7	breast:
18	chr9:104037074..104038611-chr9:104051619..104053776,2	MCF-7	breast:
19	chr9:103462912..103463800-chr9:104073433..104074690,5	K562	blood:
20	chr9:104069628..104072510-chr9:104073819..104075636,2	MCF-7	breast:
21	chr9:103881309..103882121-chr9:104073642..104074623,5	MCF-7	breast:
22	chr9:104070042..104072978-chr9:104153552..104156016,2	MCF-7	breast:
23	chr9:104022273..104023207-chr9:104074087..104074825,2	MCF-7	breast:

No data

Extended variants
information (count: 1010 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1010 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555011928	chr9:104049624-104049625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35772088	chr9:104049671-104049672	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536595448	chr9:104049700-104049701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556485710	chr9:104049776-104049777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191268609	chr9:104049790-104049791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368412609	chr9:104049807-104049808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545164172	chr9:104049818-104049819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558436665	chr9:104049845-104049846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112331623	chr9:104049868-104049869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183139874	chr9:104049869-104049870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542774131	chr9:104049882-104049883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139791156	chr9:104049885-104049886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529634383	chr9:104049904-104049905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543741375	chr9:104050024-104050025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115266570	chr9:104050081-104050082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531985079	chr9:104050091-104050092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76272206	chr9:104050222-104050223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552753383	chr9:104050223-104050224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566100036	chr9:104050266-104050267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528589495	chr9:104050286-104050287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28490420	chr9:104050347-104050348	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114398154	chr9:104050372-104050373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57133720	chr9:104050405-104050406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537425159	chr9:104050465-104050466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556524316	chr9:104050495-104050496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569952934	chr9:104050544-104050545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4574903	chr9:104050563-104050564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558722753	chr9:104050564-104050565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565431715	chr9:104050592-104050593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371569634	chr9:104050594-104050595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188520211	chr9:104050633-104050634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76338367	chr9:104050659-104050660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554230955	chr9:104050673-104050674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574125184	chr9:104050810-104050811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113986667	chr9:104050817-104050818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373231035	chr9:104050838-104050839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563104403	chr9:104050848-104050849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532851218	chr9:104050849-104050850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146555252	chr9:104050856-104050857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192073431	chr9:104050857-104050858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397757391	chr9:104050865-104050866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559943098	chr9:104050882-104050883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116088917	chr9:104050931-104050932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185103971	chr9:104050947-104050948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530032862	chr9:104050953-104050954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568542361	chr9:104051050-104051051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187868647	chr9:104051068-104051069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551007323	chr9:104051072-104051073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568556687	chr9:104051140-104051141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538973197	chr9:104051175-104051176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Bipolar disorder	19114987	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104038200-104054000	Weak transcription	Fetal Brain Male	brain
2	chr9:104039200-104050000	Weak transcription	HepG2	liver
3	chr9:104041400-104053000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:104043400-104053400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr9:104046000-104056400	Weak transcription	Brain Anterior Caudate	brain
6	chr9:104046000-104061800	Weak transcription	Brain Substantia Nigra	brain
7	chr9:104048600-104051600	Strong transcription	Fetal Brain Female	brain
8	chr9:104048800-104071600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr9:104049600-104052600	Strong transcription	Brain Hippocampus Middle	brain
10	chr9:104050000-104051400	Strong transcription	HepG2	liver
11	chr9:104050800-104053600	Weak transcription	Brain Angular Gyrus	brain
12	chr9:104051400-104067800	Weak transcription	HepG2	liver
13	chr9:104051600-104054600	Weak transcription	Fetal Brain Female	brain
14	chr9:104052600-104054800	Weak transcription	Brain Hippocampus Middle	brain
15	chr9:104052800-104053400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr9:104059200-104060000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr9:104059400-104059800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr9:104059400-104059800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:104059600-104059800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:104059800-104063000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr9:104061600-104062000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:104061800-104062000	Enhancers	Brain Substantia Nigra	brain
23	chr9:104063000-104063200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:104063400-104064000	Weak transcription	Brain Anterior Caudate	brain
25	chr9:104064000-104064200	Enhancers	Brain Anterior Caudate	brain
26	chr9:104064200-104069200	Weak transcription	Brain Anterior Caudate	brain
27	chr9:104067400-104067600	Enhancers	Fetal Brain Male	brain
28	chr9:104067600-104068600	Weak transcription	Fetal Brain Male	brain
29	chr9:104067800-104068200	Strong transcription	HepG2	liver
30	chr9:104068200-104071800	Weak transcription	HepG2	liver
31	chr9:104068400-104069800	Enhancers	Fetal Muscle Leg	muscle
32	chr9:104068400-104070800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr9:104068600-104069400	Enhancers	Fetal Brain Male	brain
34	chr9:104069000-104069800	Enhancers	Adipose Nuclei	Adipose
35	chr9:104069000-104070800	Enhancers	HMEC	breast
36	chr9:104069200-104069400	Enhancers	Aorta	Aorta
37	chr9:104069200-104069600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr9:104069200-104069800	Enhancers	Brain Anterior Caudate	brain
39	chr9:104069200-104069800	Enhancers	Brain Germinal Matrix	brain
40	chr9:104069200-104069800	Enhancers	Esophagus	oesophagus
41	chr9:104069200-104070000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:104069200-104070800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:104069200-104070800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:104069200-104070800	Enhancers	NHEK	skin
45	chr9:104069400-104069800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:104069400-104070800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:104069400-104075000	Weak transcription	Fetal Brain Male	brain
48	chr9:104069600-104074800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr9:104069800-104070000	Enhancers	Brain Angular Gyrus	brain
50	chr9:104069800-104070200	Weak transcription	Esophagus	oesophagus

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