Variant report

Variant	nsv983000
Chromosome Location	chr11:32612306-32614264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr11:32612416-32612616	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr11:32612843-32612977	GM12878	blood:	n/a	n/a
3	MAZ	chr11:32613382-32613467	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:32612656-32616287	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:32613303-32614569	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:32613075-32613438	K562	blood:	n/a	n/a
7	POLR2A	chr11:32613447-32613698	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:32613228-32614562	K562	blood:	n/a	n/a
9	POLR2A	chr11:32613557-32614136	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:32614211-32614595	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:32614129-32614474	K562	blood:	n/a	n/a
12	POLR2A	chr11:32612929-32613865	GM12891	blood:	n/a	n/a
13	POLR2A	chr11:32611368-32612315	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:32613454-32614128	K562	blood:	n/a	n/a
15	POLR2A	chr11:32613707-32613744	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:32614055-32614557	A549	lung:	n/a	n/a
17	POLR2A	chr11:32613388-32613439	MCF-7	breast:	n/a	n/a
18	POLR2A	chr11:32612547-32612752	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:32613474-32614004	K562	blood:	n/a	n/a
20	POLR2A	chr11:32612923-32614659	GM12892	blood:	n/a	n/a
21	POLR2A	chr11:32613509-32613682	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:32612616-32612809	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:32614033-32614660	K562	blood:	n/a	n/a
24	POLR2A	chr11:32613440-32613485	MCF-7	breast:	n/a	n/a
25	POLR2A	chr11:32612995-32614295	GM12892	blood:	n/a	n/a
26	POLR2A	chr11:32613500-32613843	A549	lung:	n/a	n/a
27	POLR2A	chr11:32613468-32613657	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:32611873-32612375	GM12892	blood:	n/a	n/a
29	POLR2A	chr11:32613007-32613243	GM12891	blood:	n/a	n/a
30	POLR2A	chr11:32614183-32616251	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:32613468-32613851	SK-N-MC	brain:	n/a	n/a
32	POLR2A	chr11:32613701-32613779	MCF-7	breast:	n/a	n/a
33	POLR2A	chr11:32614247-32614605	GM12891	blood:	n/a	n/a
34	POLR2A	chr11:32612683-32612715	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:32613941-32614201	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr11:32612984-32614661	GM12892	blood:	n/a	n/a
37	POLR2A	chr11:32610985-32616745	K562	blood:	n/a	n/a
38	POLR2A	chr11:32612985-32613553	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:32612525-32612914	GM12892	blood:	n/a	n/a
40	POLR2A	chr11:32613038-32613294	HepG2	liver:	n/a	n/a
41	POLR2A	chr11:32612703-32612730	HepG2	liver:	n/a	n/a
42	POLR2A	chr11:32613046-32614675	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr11:32614007-32614078	ProgFib	skin:	n/a	n/a
44	POLR2A	chr11:32612960-32614649	GM12892	blood:	n/a	n/a
45	POLR2A	chr11:32613982-32614671	GM12891	blood:	n/a	n/a
46	POLR2A	chr11:32613576-32613598	MCF-7	breast:	n/a	n/a
47	POLR2A	chr11:32613580-32613935	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:32613012-32614772	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:32614194-32614230	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr11:32613435-32613728	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32605232..32608580-chr11:32610157..32613118,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC73-3	chr11:32613339-32614317	NONHSAT018672

No data

Variant related genes	Relation type
EIF3M	TF binding region
ENSG00000149100	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79333984	chr11:32612316-32612317	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs551095486	chr11:32612330-32612331	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs187022036	chr11:32612340-32612341	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs539976875	chr11:32612341-32612342	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs576171115	chr11:32612386-32612387	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs143418181	chr11:32612392-32612393	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs531938787	chr11:32612398-32612399	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs191099458	chr11:32612410-32612411	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs546804660	chr11:32612436-32612437	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs12277746	chr11:32612476-32612477	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs180753805	chr11:32612484-32612485	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs367629144	chr11:32612510-32612511	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs567755729	chr11:32612511-32612512	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs140617546	chr11:32612517-32612518	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs556968799	chr11:32612527-32612528	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs555524975	chr11:32612543-32612544	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs576885702	chr11:32612548-32612549	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs545949198	chr11:32612553-32612554	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs553240739	chr11:32612597-32612598	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs112282948	chr11:32612601-32612602	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs542195398	chr11:32612603-32612604	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs138418628	chr11:32612617-32612618	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371055984	chr11:32612630-32612631	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs544285229	chr11:32612641-32612642	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs564578622	chr11:32612642-32612643	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs533298054	chr11:32612701-32612702	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs546767923	chr11:32612722-32612723	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs566770463	chr11:32612779-32612780	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs530093179	chr11:32612810-32612811	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs529534766	chr11:32612817-32612818	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs549222237	chr11:32612874-32612875	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs371303853	chr11:32612886-32612887	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375822353	chr11:32612910-32612911	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs185576043	chr11:32612934-32612935	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs16923433	chr11:32612980-32612981	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs570513652	chr11:32612993-32612994	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs539189238	chr11:32612996-32612997	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs60259032	chr11:32613026-32613027	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs201873	chr11:32613135-32613136	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs372237544	chr11:32613136-32613137	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs560094672	chr11:32613168-32613169	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs528013548	chr11:32613217-32613218	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs555655068	chr11:32613229-32613230	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs12292455	chr11:32613237-32613238	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs544576914	chr11:32613253-32613254	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs148389293	chr11:32613263-32613264	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs552468383	chr11:32613364-32613365	Strong transcription Weak transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs115517221	chr11:32613410-32613411	Strong transcription Weak transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs540368119	chr11:32613477-32613478	Strong transcription Weak transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs141139456	chr11:32613508-32613509	Strong transcription Weak transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32606800-32613400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:32606800-32613400	Weak transcription	Aorta	Aorta
3	chr11:32606800-32616000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:32607000-32617000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:32607800-32613200	Weak transcription	Small Intestine	intestine
6	chr11:32607800-32621200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:32607800-32628400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:32608200-32619400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:32608400-32616200	Genic enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:32608400-32619000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:32608400-32619400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:32608400-32619400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:32608400-32628200	Strong transcription	HSMM	muscle
14	chr11:32608600-32617000	Strong transcription	A549	lung
15	chr11:32608600-32618400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:32608600-32619400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:32608600-32628400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:32608800-32628000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:32609000-32628200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:32609000-32629600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:32609200-32623400	Strong transcription	Hela-S3	cervix
22	chr11:32609200-32623800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:32609400-32618400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:32609400-32630200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:32609600-32612800	Strong transcription	Fetal Intestine Small	intestine
26	chr11:32609600-32618600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:32609600-32618600	Strong transcription	Fetal Stomach	stomach
28	chr11:32609800-32617800	Strong transcription	HepG2	liver
29	chr11:32609800-32617800	Strong transcription	K562	blood
30	chr11:32609800-32619800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:32609800-32626000	Strong transcription	NHDF-Ad	bronchial
32	chr11:32609800-32628000	Strong transcription	Fetal Thymus	thymus
33	chr11:32610000-32616000	Strong transcription	Fetal Kidney	kidney
34	chr11:32610000-32616000	Strong transcription	NHLF	lung
35	chr11:32610000-32616200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:32610000-32616400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:32610000-32617200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:32610000-32617200	Strong transcription	NHEK	skin
39	chr11:32610000-32618600	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr11:32610000-32618600	Strong transcription	Rectal Smooth Muscle	rectum
41	chr11:32610000-32618800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:32610000-32619200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:32610000-32619800	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:32610000-32619800	Strong transcription	Left Ventricle	heart
45	chr11:32610000-32620200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:32610000-32621200	Strong transcription	Liver	Liver
47	chr11:32610000-32621200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr11:32610000-32626000	Strong transcription	Placenta	Placenta
49	chr11:32610000-32626000	Strong transcription	Osteobl	bone
50	chr11:32610000-32627400	Strong transcription	Rectal Mucosa Donor 31	rectum

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