Variant report

Variant	nsv894684
Chromosome Location	chr9:140991359-141026318
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140991128..140993433-chr9:140998381..141000455,2	K562	blood:
2	chr9:140949053..140949565-chr9:140995304..140996092,3	MCF-7	breast:
3	chr9:140955941..140956581-chr9:140995170..140996036,2	MCF-7	breast:
4	chr9:140955879..140956683-chr9:140995540..140996190,2	MCF-7	breast:
5	chr9:140991128..140993433-chr9:140998381..141000455,2	K562	blood:
6	chr9:141011439..141013713-chr9:141015634..141018380,2	K562	blood:
7	chr9:137024514..137025058-chr9:141013083..141013583,2	HCT-116	colon:
8	chr9:141011439..141013713-chr9:141015634..141018380,2	K562	blood:
9	chr9:140948638..140949637-chr9:141008065..141008656,3	MCF-7	breast:
10	chr9:141007252..141009770-chr9:141014340..141016354,2	MCF-7	breast:
11	chr9:141007252..141009770-chr9:141014340..141016354,2	MCF-7	breast:

No data

Extended variants
information (count: 1999 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:1999 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3812541	chr9:140991359-140991360	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556723779	chr9:140991362-140991363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139422432	chr9:140991367-140991368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34001448	chr9:140991369-140991370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189153185	chr9:140991468-140991469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576609472	chr9:140991474-140991475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142621073	chr9:140991566-140991567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372195276	chr9:140991573-140991574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555787665	chr9:140991683-140991684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572506263	chr9:140991689-140991690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112803387	chr9:140991716-140991717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541460952	chr9:140991751-140991752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539415902	chr9:140991765-140991766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564537664	chr9:140991803-140991804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146014478	chr9:140991810-140991811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114090069	chr9:140991814-140991815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562752797	chr9:140991903-140991904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62579470	chr9:140991923-140991924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531499471	chr9:140991938-140991939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139915358	chr9:140991951-140991952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79219024	chr9:140991956-140991957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193014427	chr9:140991993-140991994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527263260	chr9:140992006-140992007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547002898	chr9:140992015-140992016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34333095	chr9:140992020-140992021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570169614	chr9:140992031-140992032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149701305	chr9:140992034-140992035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4876925	chr9:140992104-140992105	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs570270785	chr9:140992105-140992106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535757656	chr9:140992129-140992130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2472237	chr9:140992145-140992146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572793231	chr9:140992158-140992159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148421006	chr9:140992183-140992184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369873171	chr9:140992196-140992197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558186696	chr9:140992212-140992213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79099394	chr9:140992281-140992282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543939037	chr9:140992338-140992339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571229399	chr9:140992346-140992347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79319809	chr9:140992348-140992349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10867106	chr9:140992371-140992372	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs561613273	chr9:140992382-140992383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527588428	chr9:140992415-140992416	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570319210	chr9:140992493-140992494	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113688047	chr9:140992508-140992509	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564152688	chr9:140992558-140992559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185310890	chr9:140992571-140992572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1531167	chr9:140992573-140992574	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs190139713	chr9:140992574-140992575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138612591	chr9:140992583-140992584	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536024972	chr9:140992604-140992605	Weak transcription Strong transcription Enhancers	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140976000-141000000	Weak transcription	Brain Angular Gyrus	brain
2	chr9:140977800-140994200	Weak transcription	Brain Anterior Caudate	brain
3	chr9:140978800-140993800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr9:140987000-140998200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:140988200-141044600	Weak transcription	Right Atrium	heart
6	chr9:140989600-140992400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:140989600-140993600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr9:140989600-141000000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:140990600-140993600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:140990600-140996400	Strong transcription	Fetal Brain Female	brain
11	chr9:140991000-140998400	Strong transcription	Brain Germinal Matrix	brain
12	chr9:140992400-140992800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:140992400-140993600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:140992800-140993600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:140993400-140993600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:140993400-140994200	Enhancers	Gastric	stomach
17	chr9:140993600-140994000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:140993600-140994000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:140993600-140994200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:140993600-140994200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
21	chr9:140993600-140994200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:140993600-140994200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:140993600-140994200	ZNF genes & repeats	Fetal Brain Male	brain
24	chr9:140993600-140994600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:140993600-140994600	Genic enhancers	Brain Inferior Temporal Lobe	brain
26	chr9:140993800-140994200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:140993800-140994400	Enhancers	Brain Cingulate Gyrus	brain
28	chr9:140994000-140994200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:140994000-140994600	Enhancers	Spleen	Spleen
30	chr9:140994000-140995400	ZNF genes & repeats	Fetal Stomach	stomach
31	chr9:140994000-140999800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr9:140994200-140994400	Enhancers	Fetal Brain Male	brain
33	chr9:140994200-140994600	Enhancers	Brain Anterior Caudate	brain
34	chr9:140994200-140995200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:140994200-140997200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:140994200-141013000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr9:140994400-140996200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr9:140994600-140997200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr9:140994600-141008400	Weak transcription	Brain Anterior Caudate	brain
40	chr9:140995200-140996000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr9:140996000-140999600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:140996400-140997200	Weak transcription	Fetal Brain Female	brain
43	chr9:140997000-140997600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:140997200-140999200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:140997200-141000800	Strong transcription	Fetal Brain Female	brain
46	chr9:140997400-140998400	Enhancers	Fetal Muscle Trunk	muscle
47	chr9:140997400-140999200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:140997400-140999800	Enhancers	Fetal Muscle Leg	muscle
49	chr9:140997600-140999000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:140998200-140999200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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