Variant report

Variant	nsv1050475
Chromosome Location	chr11:15584061-15620602
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:15)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:15595876..15598536-chr11:15605124..15607978,2	K562	blood:
2	chr11:15617545..15621489-chr11:15622819..15625613,4	K562	blood:
3	chr11:15599637..15602422-chr11:15610092..15612247,2	K562	blood:
4	chr11:15597934..15599847-chr11:15603625..15606035,2	K562	blood:
5	chr11:15599637..15602422-chr11:15610092..15612247,2	K562	blood:
6	chr11:15617638..15619772-chr11:15621755..15624319,2	K562	blood:
7	chr11:15595531..15597893-chr11:15599482..15601771,2	K562	blood:
8	chr11:15593846..15595454-chr11:15598366..15601306,2	K562	blood:
9	chr11:15606391..15608024-chr11:15609071..15611869,2	K562	blood:
10	chr11:15583949..15584538-chr16:17728737..17729237,2	MCF-7	breast:
11	chr11:15593846..15595454-chr11:15598366..15601306,2	K562	blood:
12	chr11:15595876..15598536-chr11:15605124..15607978,2	K562	blood:
13	chr11:15595531..15597893-chr11:15599482..15601771,2	K562	blood:
14	chr11:15597934..15599847-chr11:15603625..15606035,2	K562	blood:
15	chr11:15606391..15608024-chr11:15609071..15611869,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INSC-1	chr11:15607254-15607348	ENSG00000254946
2	lnc-SOX6-3	chr11:15593569-15593946	ENSG00000254789
3	lnc-SOX6-3	chr11:15593393-15593946	NONHSAT018153
4	lnc-INSC-1	chr11:15610093-15610675	NONHSAT018151
5	lnc-INSC-1	chr11:15612624-15612644	ENSG00000254946
6	lnc-INSC-1	chr11:15607254-15607348	NONHSAT018151
7	lnc-INSC-1	chr11:15612624-15613545	NONHSAT018151
8	lnc-SOX6-6	chr11:15600427-15600779	l_435_chr11:15550466-15601745_kidney
9	lnc-INSC-5	chr11:15602132-15602309	l_436_chr11:15602131-15683482_kidney
10	lnc-SOX6-6	chr11:15601724-15601745	l_435_chr11:15550466-15601745_kidney

No data

Extended variants
information (count: 1467 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1467 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2351049	chr11:15584061-15584062	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs56798028	chr11:15584114-15584115	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138463374	chr11:15584125-15584126	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184731075	chr11:15584147-15584148	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542926723	chr11:15584173-15584174	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2351050	chr11:15584211-15584212	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs149284505	chr11:15584213-15584214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189556311	chr11:15584246-15584247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561350724	chr11:15584288-15584289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144437988	chr11:15584308-15584309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576700243	chr11:15584321-15584322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543722988	chr11:15584331-15584332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7938390	chr11:15584378-15584379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs193044171	chr11:15584379-15584380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185307723	chr11:15584391-15584392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559633613	chr11:15584408-15584409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533336033	chr11:15584416-15584417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538351855	chr11:15584460-15584461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189760813	chr11:15584525-15584526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77600743	chr11:15584542-15584543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181467764	chr11:15584589-15584590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560635242	chr11:15584615-15584616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550101684	chr11:15584668-15584669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568220618	chr11:15584709-15584710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143709747	chr11:15584820-15584821	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs547512465	chr11:15584829-15584830	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs11602040	chr11:15584860-15584861	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs558563177	chr11:15584932-15584933	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs564587409	chr11:15584987-15584988	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs78496748	chr11:15584999-15585000	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs569657566	chr11:15585000-15585001	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs371222977	chr11:15585044-15585045	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs112245436	chr11:15585054-15585055	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs147225028	chr11:15585081-15585082	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs541253139	chr11:15585124-15585125	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs553413025	chr11:15585137-15585138	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs532070920	chr11:15585147-15585148	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs578006996	chr11:15585176-15585177	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs376129263	chr11:15585180-15585181	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs140469843	chr11:15585183-15585184	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs530936148	chr11:15585196-15585197	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs77962819	chr11:15585212-15585213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550439027	chr11:15585221-15585222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142171641	chr11:15585234-15585235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113416981	chr11:15585242-15585243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112614577	chr11:15585279-15585280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114898795	chr11:15585326-15585327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547311515	chr11:15585343-15585344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565884045	chr11:15585357-15585358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12291052	chr11:15585370-15585371	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
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
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Myelofibrosis	22110671	CNVD
Cancer	24489367	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Neuroblastoma	19435921	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15574000-15591600	Weak transcription	Right Atrium	heart
2	chr11:15577400-15584400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:15580400-15584400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:15581000-15584400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:15581000-15586800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:15581200-15587000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:15581800-15591000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:15582000-15584600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:15583000-15587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:15583600-15584200	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:15583800-15585200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:15583800-15585400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr11:15583800-15585400	Enhancers	Brain Germinal Matrix	brain
14	chr11:15584000-15585200	Enhancers	Brain Anterior Caudate	brain
15	chr11:15584200-15585200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:15584400-15585000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:15584400-15585000	Enhancers	Fetal Stomach	stomach
18	chr11:15584400-15585400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr11:15584400-15585600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:15584400-15585600	Enhancers	Brain Cingulate Gyrus	brain
21	chr11:15584600-15585600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr11:15584800-15585200	Bivalent Enhancer	Brain Hippocampus Middle	brain
23	chr11:15584800-15585800	Enhancers	Brain Substantia Nigra	brain
24	chr11:15585000-15585600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr11:15585000-15590800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:15585200-15586200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:15585200-15610600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:15585400-15585600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:15585400-15586400	Weak transcription	Brain Germinal Matrix	brain
30	chr11:15585400-15587200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:15585600-15586600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:15586200-15586400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:15586400-15587000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:15586400-15588800	Enhancers	Brain Germinal Matrix	brain
35	chr11:15586600-15588600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:15587000-15587800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:15587000-15588400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr11:15587200-15588600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr11:15587400-15587600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr11:15587400-15587600	Enhancers	Fetal Brain Female	brain
41	chr11:15587800-15588200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:15587800-15588200	Enhancers	Fetal Muscle Leg	muscle
43	chr11:15587800-15588200	Enhancers	Left Ventricle	heart
44	chr11:15587800-15588200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:15587800-15588400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:15588000-15588200	Enhancers	Lung	lung
47	chr11:15588200-15591000	Weak transcription	Fetal Muscle Leg	muscle
48	chr11:15588200-15606000	Weak transcription	Left Ventricle	heart
49	chr11:15588400-15589000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr11:15588400-15593800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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