Variant report

Variant	nsv514640
Chromosome Location	chr11:92967440-92972784
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:92967850-92968192	HepG2	liver:	n/a	n/a
2	ATF1	chr11:92969984-92970234	K562	blood:	n/a	n/a
3	BHLHE40	chr11:92970675-92970734	K562	blood:	n/a	n/a
4	BRCA1	chr11:92967771-92968145	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr11:92967849-92967924	GM12878	blood:	n/a	n/a
6	BRCA1	chr11:92967787-92968087	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr11:92967713-92968110	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr11:92967800-92967950	HAc	cerebellar:	n/a	n/a
9	CTCF	chr11:92970020-92970170	BJ	skin:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
10	CTCF	chr11:92967860-92968010	WI-38	lung:	n/a	n/a
11	CTCF	chr11:92967900-92968050	AG04450	lung:	n/a	n/a
12	CTCF	chr11:92969988-92970219	K562	blood:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
13	CTCF	chr11:92967860-92968010	HAc	cerebellar:	n/a	n/a
14	CTCF	chr11:92967880-92968030	HepG2	liver:	n/a	n/a
15	CTCF	chr11:92967900-92968050	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr11:92969961-92970213	GM12878	blood:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
17	CTCF	chr11:92967880-92968030	BE2_C	brain:	n/a	n/a
18	CTCF	chr11:92970020-92970170	GM12878	blood:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
19	CTCF	chr11:92967440-92967590	GM12871	blood:	n/a	n/a
20	CTCF	chr11:92970020-92970170	GM06990	blood:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
21	CTCF	chr11:92969940-92970090	HCM	heart:	n/a	n/a
22	CTCF	chr11:92967580-92967730	AoAF	blood vessel:	n/a	chr11:92967614-92967623
23	CTCF	chr11:92967900-92968050	GM12870	blood:	n/a	n/a
24	CTCF	chr11:92967880-92968030	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr11:92970000-92970150	HAc	cerebellar:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
26	CTCF	chr11:92969843-92970322	H1-hESC	embryonic stem cell:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
27	CTCF	chr11:92969733-92970443	A549	lung:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
28	CTCF	chr11:92967900-92968050	BJ	skin:	n/a	n/a
29	CTCF	chr11:92967820-92968101	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr11:92969970-92970199	HepG2	liver:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
31	CTCF	chr11:92970020-92970170	GM12869	blood:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
32	CTCF	chr11:92970020-92970170	HUVEC	blood vessel:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
33	CTCF	chr11:92969960-92970110	HRPEpiC	eye:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
34	CTCF	chr11:92969980-92970130	GM12873	blood:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
35	CTCF	chr11:92967900-92968050	GM12874	blood:	n/a	n/a
36	CTCF	chr11:92967700-92968178	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr11:92969960-92970110	A549	lung:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
38	CTCF	chr11:92967900-92968050	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr11:92967900-92968050	GM12871	blood:	n/a	n/a
40	CTCF	chr11:92967880-92968030	GM12870	blood:	n/a	n/a
41	CTCF	chr11:92970000-92970150	WERI-Rb-1	eye:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
42	CTCF	chr11:92969971-92970207	Gliobla	brain:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
43	CTCF	chr11:92967920-92968070	HMEC	breast:	n/a	n/a
44	CTCF	chr11:92970020-92970170	GM12875	blood:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
45	CTCF	chr11:92970060-92970210	NHEK	skin:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
46	CTCF	chr11:92970020-92970170	GM12872	blood:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
47	CTCF	chr11:92967860-92968010	HepG2	liver:	n/a	n/a
48	CTCF	chr11:92967900-92968050	HVMF	connective:	n/a	n/a
49	CTCF	chr11:92969981-92970199	A549	lung:	n/a	chr11:92970083-92970096 chr11:92970081-92970099
50	CTCF	chr11:92967860-92968010	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:92967732..92968419-chr11:93276090..93276599,2	MCF-7	breast:
2	chr11:92969639..92970193-chr11:93354991..93355840,3	MCF-7	breast:
3	chr11:92967543..92968491-chr11:93381050..93382178,5	MCF-7	breast:
4	chr11:92967484..92968450-chr11:93381041..93381968,2	MCF-7	breast:
5	chr11:92969452..92970081-chr11:93276487..93277099,2	K562	blood:
6	chr11:92967849..92968562-chr11:93381285..93382522,3	K562	blood:
7	chr11:92966947..92969391-chr11:93461362..93463469,2	MCF-7	breast:
8	chr11:92969485..92970477-chr11:93354947..93355840,3	MCF-7	breast:
9	chr11:92969790..92970518-chr11:93276340..93277045,2	MCF-7	breast:
10	chr11:92967004..92969255-chr11:93384967..93385922,6	K562	blood:

Variant related genes	Relation type
ENSG00000255233	TF binding region
ENSG00000166002	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76704538	chr11:92967444-92967445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188504048	chr11:92967451-92967452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143723353	chr11:92967494-92967495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552150412	chr11:92967533-92967534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34905102	chr11:92967538-92967539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563963868	chr11:92967544-92967545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531071542	chr11:92967578-92967579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75648856	chr11:92967581-92967582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563631967	chr11:92967604-92967605	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs192841281	chr11:92967621-92967622	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs535555453	chr11:92967645-92967646	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs79211238	chr11:92967694-92967695	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs565568295	chr11:92967806-92967807	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539244789	chr11:92967821-92967822	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs61920521	chr11:92967835-92967836	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369258141	chr11:92967841-92967842	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35635056	chr11:92967855-92967856	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576292180	chr11:92967858-92967859	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536899368	chr11:92967902-92967903	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555753376	chr11:92967915-92967916	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573916522	chr11:92967916-92967917	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs16918691	chr11:92967918-92967919	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566157712	chr11:92967933-92967934	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370968674	chr11:92967987-92967988	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs578235332	chr11:92968006-92968007	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545628015	chr11:92968015-92968016	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563684193	chr11:92968061-92968062	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs151051150	chr11:92968063-92968064	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549380068	chr11:92968102-92968103	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141224906	chr11:92968139-92968140	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572100470	chr11:92968198-92968199	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374260984	chr11:92968216-92968217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544407804	chr11:92968221-92968222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs61920522	chr11:92968236-92968237	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547138949	chr11:92968283-92968284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535256900	chr11:92968293-92968294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs7130024	chr11:92968311-92968312	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7130025	chr11:92968315-92968316	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs145021935	chr11:92968318-92968319	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs569723425	chr11:92968322-92968323	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs138809420	chr11:92968362-92968363	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs184252104	chr11:92968363-92968364	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs574005456	chr11:92968386-92968387	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs535008774	chr11:92968444-92968445	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs555752170	chr11:92968446-92968447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs377766449	chr11:92968462-92968463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs141878646	chr11:92968577-92968578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs538371591	chr11:92968596-92968597	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs545490952	chr11:92968667-92968668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs557549945	chr11:92968683-92968684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Prostate cancer	18632612	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92967200-92968000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr11:92967400-92967800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr11:92967400-92967800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:92967400-92968000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:92967600-92967800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:92967600-92967800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:92967600-92968000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr11:92967600-92968000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:92967800-92968200	Enhancers	Brain Cingulate Gyrus	brain
10	chr11:92969000-92970400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:92969600-92971000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr11:92969800-92970000	Enhancers	Fetal Intestine Small	intestine
13	chr11:92969800-92970000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr11:92969800-92970000	Enhancers	Stomach Smooth Muscle	stomach
15	chr11:92969800-92970200	Enhancers	Fetal Lung	lung
16	chr11:92970000-92970200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr11:92970200-92970400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr11:92970400-92970600	Enhancers	Fetal Intestine Large	intestine
19	chr11:92970400-92970600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr11:92970400-92971400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:92970600-92970800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr11:92970800-92971000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:92971000-92971400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr11:92971400-92971600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:92971600-92972000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:92972000-92972600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:92972600-92972800	Enhancers	Fetal Intestine Large	intestine

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