Variant report

Variant	nsv8588
Chromosome Location	chr9:141006435-141017543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:141011439..141013713-chr9:141015634..141018380,2	K562	blood:
2	chr9:141011439..141013713-chr9:141015634..141018380,2	K562	blood:
3	chr9:141007252..141009770-chr9:141014340..141016354,2	MCF-7	breast:
4	chr9:140948638..140949637-chr9:141008065..141008656,3	MCF-7	breast:
5	chr9:137024514..137025058-chr9:141013083..141013583,2	HCT-116	colon:
6	chr9:141007252..141009770-chr9:141014340..141016354,2	MCF-7	breast:

Extended variants
information (count: 844 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:844 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556739222	chr9:141006547-141006548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548481305	chr9:141006559-141006560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112240559	chr9:141006576-141006577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565535373	chr9:141006581-141006582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370156409	chr9:141006582-141006583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74279661	chr9:141006588-141006589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542847246	chr9:141006589-141006590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553568444	chr9:141006591-141006592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190563507	chr9:141006592-141006593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181770675	chr9:141006593-141006594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565261992	chr9:141006594-141006595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530780921	chr9:141006595-141006596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186852365	chr9:141006643-141006644	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs72770908	chr9:141006656-141006657	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs9918955	chr9:141006667-141006668	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113993880	chr9:141006692-141006693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs548896199	chr9:141006739-141006740	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs565901844	chr9:141006740-141006741	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs576553486	chr9:141006741-141006742	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs528317041	chr9:141006756-141006757	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs551666922	chr9:141006780-141006781	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs571573086	chr9:141006781-141006782	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs536997624	chr9:141006783-141006784	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs200027204	chr9:141006811-141006812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375632366	chr9:141006816-141006817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550595423	chr9:141006830-141006831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201003603	chr9:141006835-141006836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369318195	chr9:141006840-141006841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373309375	chr9:141006842-141006843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202244111	chr9:141006875-141006876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200122209	chr9:141006876-141006877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200917554	chr9:141006877-141006878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201753337	chr9:141006878-141006879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79634697	chr9:141006886-141006887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200220577	chr9:141006889-141006890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201748956	chr9:141006899-141006900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374147774	chr9:141006900-141006901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202104778	chr9:141006957-141006958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200430987	chr9:141006965-141006966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374373281	chr9:141006990-141006991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201390561	chr9:141006994-141006995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539556317	chr9:141007011-141007012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376850084	chr9:141007087-141007088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369734308	chr9:141007121-141007122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573074871	chr9:141007163-141007164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78165718	chr9:141007189-141007190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189579742	chr9:141007197-141007198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558787375	chr9:141007246-141007247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140611276	chr9:141007247-141007248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144288863	chr9:141007279-141007280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:19)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140988200-141044600	Weak transcription	Right Atrium	heart
2	chr9:140994200-141013000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:140994600-141008400	Weak transcription	Brain Anterior Caudate	brain
4	chr9:140998400-141009800	Weak transcription	Brain Germinal Matrix	brain
5	chr9:141000400-141016600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:141000600-141011000	Weak transcription	Brain Angular Gyrus	brain
7	chr9:141000800-141009200	Weak transcription	Fetal Brain Female	brain
8	chr9:141000800-141009400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:141001000-141006600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:141006600-141006800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:141006800-141009600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:141007400-141007800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr9:141008400-141008800	Active TSS	Brain Anterior Caudate	brain
14	chr9:141008400-141009000	Active TSS	A549	lung
15	chr9:141008600-141008800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr9:141008600-141009000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
17	chr9:141008800-141009400	Weak transcription	Brain Anterior Caudate	brain
18	chr9:141008800-141015600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:141009000-141009200	Bivalent Enhancer	A549	lung
20	chr9:141009200-141017600	Strong transcription	Fetal Brain Female	brain
21	chr9:141009400-141009800	Strong transcription	Brain Anterior Caudate	brain
22	chr9:141009400-141010600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:141009600-141012400	Strong transcription	Brain Cingulate Gyrus	brain
24	chr9:141009800-141011200	Strong transcription	Brain Germinal Matrix	brain
25	chr9:141009800-141012000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr9:141009800-141016200	Weak transcription	Brain Anterior Caudate	brain
27	chr9:141010600-141013400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:141011000-141012600	Strong transcription	Brain Angular Gyrus	brain
29	chr9:141011200-141012000	Weak transcription	Brain Germinal Matrix	brain
30	chr9:141012000-141012800	Strong transcription	Brain Germinal Matrix	brain
31	chr9:141012000-141017600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:141012400-141015400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr9:141012600-141022200	Weak transcription	Brain Angular Gyrus	brain
34	chr9:141012800-141013200	Weak transcription	Brain Germinal Matrix	brain
35	chr9:141013000-141013200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr9:141013000-141018000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:141013200-141014000	ZNF genes & repeats	Brain Germinal Matrix	brain
38	chr9:141013200-141015800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:141013200-141016200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:141013400-141013600	Enhancers	Spleen	Spleen
41	chr9:141013400-141017600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:141013600-141014000	Weak transcription	Spleen	Spleen
43	chr9:141013800-141016200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr9:141014000-141014200	Active TSS	Spleen	Spleen
45	chr9:141014000-141014400	Strong transcription	Brain Germinal Matrix	brain
46	chr9:141014400-141017000	ZNF genes & repeats	Brain Germinal Matrix	brain
47	chr9:141014800-141015200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:141015400-141016800	Strong transcription	Brain Cingulate Gyrus	brain
49	chr9:141015600-141017400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr9:141015800-141016800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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