Variant report

Variant	esv3472541
Chromosome Location	chr11:119519910-119523381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:119521920-119522070	HepG2	liver:	n/a	chr11:119521976-119521994 chr11:119521979-119521992
2	CTCF	chr11:119521948-119522013	K562	blood:	n/a	chr11:119521976-119521994 chr11:119521979-119521992
3	FOS	chr11:119521114-119521208	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr11:119521110-119521193	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr11:119522733-119522753	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:119521127-119521210	H1-hESC	embryonic stem cell:	n/a	n/a
7	STAT3	chr11:119521004-119521266	MCF10A-Er-Src	breast:	n/a	chr11:119521100-119521109 chr11:119521105-119521112 chr11:119521101-119521110
8	STAT3	chr11:119521006-119521262	MCF10A-Er-Src	breast:	n/a	chr11:119521100-119521109 chr11:119521105-119521112 chr11:119521101-119521110
9	ZNF143	chr11:119521231-119521442	K562	blood:	n/a	n/a
10	ZNF143	chr11:119521158-119521468	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:119522486-119522536	GM06990	blood:	n/a
2	chr11:119522486-119522536	GM12891	blood:	n/a
3	chr11:119522486-119522536	Jurkat	blood:	n/a
4	chr11:119522486-119522536	NH-A	brain:	n/a
5	chr11:119522486-119522536	HPAEpiC	pulmonary alveolar:	n/a
6	chr11:119522486-119522536	PrEC	prostate:	n/a
7	chr11:119522486-119522536	ovcar-3	ovarian:	n/a
8	chr11:119522486-119522536	AG10803	skin:	n/a
9	chr11:119522486-119522536	H1-hESC	embryonic stem cell:	embryo
10	chr11:119522486-119522536	ProgFib	skin:	n/a
11	chr11:119522486-119522536	Hepatocyte	liver:	n/a
12	chr11:119522486-119522536	MCF10A-Er-Src	breast:	n/a
13	chr11:119522486-119522536	A549	lung:	n/a
14	chr11:119522486-119522536	NHDF-neo	bronchial:	n/a
15	chr11:119522486-119522536	HRCEpiC	kidney:	n/a
16	chr11:119522486-119522536	HUVEC	blood vessel:	n/a
17	chr11:119522486-119522536	SK-N-SH	brain:	n/a
18	chr11:119522486-119522536	HCPEpiC	choroid plexus:	n/a
19	chr11:119522486-119522536	IMR90	lung:	fetal
20	chr11:119522486-119522536	GM12892	blood:	n/a
21	chr11:119522486-119522536	SKMC	muscle:	n/a
22	chr11:119522486-119522536	MCF-7	breast:	n/a
23	chr11:119522486-119522536	BJ	skin:	n/a
24	chr11:119522486-119522536	GM12878	blood:	n/a
25	chr11:119522486-119522536	HNPCEpiC	eye:	n/a
26	chr11:119522486-119522536	HEK293	kidney:	embryo
27	chr11:119522486-119522536	HIPEpiC	eye:	n/a
28	chr11:119522486-119522536	SK-N-MC	brain:	n/a
29	chr11:119522486-119522536	HAEpiC	amniotic membrane:	n/a
30	chr11:119522486-119522536	HL-60	blood:	n/a
31	chr11:119522486-119522536	HCM	heart:	n/a
32	chr11:119522486-119522536	PFSK-1	brain:	n/a
33	chr11:119522486-119522536	AG04449	skin:	fetal
34	chr11:119522486-119522536	HRE	kidney:	n/a
35	chr11:119522486-119522536	HRPEpiC	eye:	n/a
36	chr11:119522486-119522536	AG09309	skin:	n/a
37	chr11:119522486-119522536	GM19239	blood:	n/a
38	chr11:119522486-119522536	SAEC	small airway:	n/a
39	chr11:119522486-119522536	Caco-2	colon:	n/a
40	chr11:119522486-119522536	NB4	blood:	n/a
41	chr11:119522486-119522536	K562	blood:	n/a
42	chr11:119522486-119522536	NHBE	bronchial:	n/a
43	chr11:119522486-119522536	Hela-S3	cervix:	n/a
44	chr11:119522486-119522536	AG04450	lung:	fetal
45	chr11:119522486-119522536	AoSMC	blood vessel:	n/a
46	chr11:119522486-119522536	RPTEC	kidney:	n/a
47	chr11:119522486-119522536	BE2_C	brain:	n/a
48	chr11:119522486-119522536	U87	brain:	n/a
49	chr11:119522486-119522536	HCT-116	colon:	n/a
50	chr11:119522486-119522536	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119498849..119500765-chr11:119521663..119523665,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-1123P	TF binding region
RNU6-1123P	CpG island

Extended variants
information (count: 142 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11217373	chr11:119519916-119519917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544634167	chr11:119519917-119519918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562839432	chr11:119519960-119519961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534704278	chr11:119519963-119519964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540865488	chr11:119519964-119519965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542128799	chr11:119519971-119519972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560281203	chr11:119519996-119519997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367624420	chr11:119520009-119520010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527909988	chr11:119520034-119520035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7942743	chr11:119520044-119520045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571351111	chr11:119520079-119520080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532000006	chr11:119520087-119520088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559894952	chr11:119520089-119520090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368356919	chr11:119520090-119520091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144236044	chr11:119520096-119520097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57948585	chr11:119520101-119520102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568872139	chr11:119520128-119520129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549905893	chr11:119520136-119520137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536509055	chr11:119520224-119520225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554918270	chr11:119520226-119520227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184202786	chr11:119520235-119520236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534020043	chr11:119520252-119520253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11602627	chr11:119520254-119520255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558774229	chr11:119520256-119520257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368383087	chr11:119520284-119520285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577315452	chr11:119520301-119520302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537953226	chr11:119520354-119520355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140760849	chr11:119520362-119520363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574510871	chr11:119520363-119520364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75546438	chr11:119520441-119520442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536585256	chr11:119520448-119520449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs118120747	chr11:119520455-119520456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144611432	chr11:119520490-119520491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147492735	chr11:119520507-119520508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113822835	chr11:119520530-119520531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370094696	chr11:119520554-119520555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553887596	chr11:119520576-119520577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188867355	chr11:119520579-119520580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529734857	chr11:119520599-119520600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548480978	chr11:119520614-119520615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145577766	chr11:119520626-119520627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151080666	chr11:119520656-119520657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4245200	chr11:119520659-119520660	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572092062	chr11:119520682-119520683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570564610	chr11:119520707-119520708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11217374	chr11:119520730-119520731	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs556262738	chr11:119520744-119520745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145862748	chr11:119520759-119520760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563407879	chr11:119520772-119520773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192643464	chr11:119520773-119520774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	17142309	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119514800-119520400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:119518200-119520400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:119518200-119522800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:119518400-119520800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:119518400-119521000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:119518400-119522400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:119518400-119522400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:119518400-119522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:119519000-119520800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:119520400-119521400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:119520400-119523000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:119520600-119523400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:119520800-119521400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr11:119520800-119522000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr11:119521000-119521400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr11:119521000-119521600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr11:119521000-119523000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:119521000-119523000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr11:119521200-119521400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:119521200-119523000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr11:119521200-119523200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:119521400-119522400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:119521400-119522600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:119521400-119522600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:119521400-119522800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:119521600-119522000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:119521800-119523200	Enhancers	Pancreas	Pancrea
28	chr11:119522000-119522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:119522000-119523000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr11:119522200-119523200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr11:119522400-119522800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:119522400-119523000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:119522400-119523200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:119522400-119523200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:119522400-119523200	Enhancers	Left Ventricle	heart
36	chr11:119522400-119523200	Enhancers	Spleen	Spleen
37	chr11:119522400-119523200	Enhancers	HepG2	liver
38	chr11:119522400-119523400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:119522600-119523000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:119522600-119523000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr11:119522600-119523200	Enhancers	Right Ventricle	heart
42	chr11:119522600-119523400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr11:119522600-119523600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:119522600-119523600	Enhancers	Fetal Muscle Leg	muscle
45	chr11:119522600-119524000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:119522600-119524000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr11:119522800-119523000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr11:119522800-119523200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr11:119522800-119523200	Enhancers	Placenta	Placenta
50	chr11:119522800-119523600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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