Variant report

Variant	esv3414577
Chromosome Location	chr11:16270425-16298158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:188)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:188 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:16292843-16293227	K562	blood:	n/a	n/a
2	ARID3A	chr11:16274129-16274292	K562	blood:	n/a	n/a
3	ARID3A	chr11:16283929-16284325	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:16274051-16274250	HepG2	liver:	n/a	n/a
5	ATF1	chr11:16283956-16284156	K562	blood:	n/a	n/a
6	BACH1	chr11:16273238-16273356	K562	blood:	n/a	n/a
7	CBX3	chr11:16287556-16287971	K562	blood:	n/a	n/a
8	CBX3	chr11:16287608-16287923	K562	blood:	n/a	n/a
9	CEBPB	chr11:16287647-16287968	K562	blood:	n/a	chr11:16287808-16287819
10	CEBPB	chr11:16291993-16292148	K562	blood:	n/a	n/a
11	CEBPB	chr11:16287706-16287967	HepG2	liver:	n/a	chr11:16287808-16287819
12	CEBPB	chr11:16287670-16287919	IMR90	lung:	n/a	chr11:16287808-16287819
13	CTCF	chr11:16274020-16274170	Caco-2	colon:	n/a	n/a
14	CTCF	chr11:16292880-16293030	HMEC	breast:	n/a	n/a
15	CTCF	chr11:16274040-16274190	HMF	breast:	n/a	n/a
16	CTCF	chr11:16274020-16274170	HAc	cerebellar:	n/a	n/a
17	CTCF	chr11:16274080-16274230	SAEC	small airway:	n/a	n/a
18	CTCF	chr11:16274420-16274570	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr11:16274075-16274199	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr11:16274060-16274210	A549	lung:	n/a	n/a
21	CTCF	chr11:16274060-16274210	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr11:16274100-16274250	AG04450	lung:	n/a	n/a
23	CTCF	chr11:16274020-16274170	AG04449	skin:	n/a	n/a
24	CTCF	chr11:16274080-16274230	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr11:16274000-16274150	BE2_C	brain:	n/a	n/a
26	CTCF	chr11:16274020-16274170	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr11:16274100-16274250	HCT-116	colon:	n/a	n/a
28	CTCF	chr11:16274080-16274230	HEK293	kidney:	n/a	n/a
29	CTCF	chr11:16274070-16274203	HepG2	liver:	n/a	n/a
30	CTCF	chr11:16274120-16274270	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr11:16274080-16274230	HPF	lung:	n/a	n/a
32	CTCF	chr11:16274100-16274250	BJ	skin:	n/a	n/a
33	CTCF	chr11:16274080-16274230	K562	blood:	n/a	n/a
34	CTCF	chr11:16274040-16274190	BE2_C	brain:	n/a	n/a
35	CTCF	chr11:16274000-16274150	WI-38	lung:	n/a	n/a
36	CTCF	chr11:16274080-16274230	Caco-2	colon:	n/a	n/a
37	CTCF	chr11:16274060-16274210	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr11:16274151-16274184	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr11:16274033-16274236	LNCaP	prostate:	n/a	n/a
40	CTCF	chr11:16274060-16274210	GM12864	blood:	n/a	n/a
41	CTCF	chr11:16274040-16274190	HRE	kidney:	n/a	n/a
42	CTCF	chr11:16274240-16274390	HAc	cerebellar:	n/a	n/a
43	CTCF	chr11:16274040-16274190	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr11:16292898-16293080	A549	lung:	n/a	n/a
45	CTCF	chr11:16273891-16274322	MCF-7	breast:	n/a	n/a
46	CTCF	chr11:16274020-16274170	HVMF	connective:	n/a	n/a
47	CTCF	chr11:16274082-16274225	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr11:16274100-16274250	GM12873	blood:	n/a	n/a
49	CTCF	chr11:16274060-16274210	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr11:16274060-16274210	HMEC	breast:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16288582..16290827-chr11:16311133..16313839,2	K562	blood:
2	chr11:16292606..16296428-chr11:16299635..16303061,5	K562	blood:
3	chr11:16287380..16289427-chr11:16291127..16292666,2	K562	blood:
4	chr11:16265440..16267766-chr11:16271349..16273913,2	K562	blood:
5	chr11:16289702..16293016-chr11:16300436..16303911,5	K562	blood:
6	chr11:16273763..16275411-chr11:16283126..16284650,2	K562	blood:
7	chr11:16293209..16295889-chr11:16296244..16299615,4	K562	blood:
8	chr11:16277289..16281774-chr11:16284462..16288431,5	K562	blood:
9	chr11:16296567..16299036-chr11:16300156..16302132,2	K562	blood:
10	chr11:16297975..16301797-chr11:16627660..16630721,4	K562	blood:
11	chr11:16277289..16281774-chr11:16284462..16288431,5	K562	blood:
12	chr11:16273658..16274622-chr11:16627404..16628365,5	MCF-7	breast:
13	chr11:16293209..16295889-chr11:16296244..16299615,4	K562	blood:
14	chr11:16289454..16292201-chr11:16321892..16324622,2	K562	blood:
15	chr11:16287380..16289427-chr11:16291127..16292666,2	K562	blood:
16	chr11:16272523..16274102-chr11:16278731..16281096,3	K562	blood:
17	chr11:16273998..16276548-chr11:16285283..16288177,2	K562	blood:

No data

Variant related genes	Relation type
SOX6	TF binding region
ENSG00000110693	chromatin interactions

Extended variants
information (count: 881 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:881 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386751045	chr11:16270450-16270451	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs554110912	chr11:16270451-16270452	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs188508887	chr11:16270459-16270460	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs113635092	chr11:16270460-16270461	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs180884723	chr11:16270469-16270470	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs184659976	chr11:16270493-16270494	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs537631079	chr11:16270499-16270500	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs564427135	chr11:16270539-16270540	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs564827370	chr11:16270570-16270571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs377550909	chr11:16270601-16270602	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574225075	chr11:16270622-16270623	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541382739	chr11:16270623-16270624	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370784599	chr11:16270627-16270628	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559266622	chr11:16270634-16270635	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200904900	chr11:16270642-16270643	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140309194	chr11:16270643-16270644	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577200242	chr11:16270659-16270660	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544632716	chr11:16270683-16270684	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374789641	chr11:16270707-16270708	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563035304	chr11:16270743-16270744	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531893670	chr11:16270753-16270754	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530530593	chr11:16270765-16270766	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548722281	chr11:16270809-16270810	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578253759	chr11:16270852-16270853	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560948208	chr11:16270912-16270913	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550128845	chr11:16270928-16270929	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528355729	chr11:16270936-16270937	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540899953	chr11:16270942-16270943	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527791823	chr11:16270957-16270958	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546565198	chr11:16270973-16270974	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562334197	chr11:16271041-16271042	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571547878	chr11:16271066-16271067	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539840526	chr11:16271087-16271088	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551838868	chr11:16271103-16271104	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570122197	chr11:16271106-16271107	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189134913	chr11:16271198-16271199	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182523975	chr11:16271282-16271283	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs367775917	chr11:16271298-16271299	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs73421009	chr11:16271346-16271347	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs1898502	chr11:16271389-16271390	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187104470	chr11:16271410-16271411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544565448	chr11:16271430-16271431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562947774	chr11:16271486-16271487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548148894	chr11:16271528-16271529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116066334	chr11:16271536-16271537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143612476	chr11:16271562-16271563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561076349	chr11:16271601-16271602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528254187	chr11:16271610-16271611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546822101	chr11:16271620-16271621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565165963	chr11:16271625-16271626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16248200-16274200	Weak transcription	Pancreas	Pancrea
2	chr11:16256200-16272000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:16269600-16270600	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr11:16269800-16271400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:16270200-16271600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:16270600-16271200	Enhancers	Fetal Heart	heart
7	chr11:16270600-16283600	Weak transcription	Fetal Intestine Small	intestine
8	chr11:16270800-16271000	Enhancers	Left Ventricle	heart
9	chr11:16271400-16289200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:16271600-16271800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:16271600-16271800	Enhancers	Left Ventricle	heart
12	chr11:16271600-16271800	Enhancers	Psoas Muscle	Psoas
13	chr11:16271800-16272000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:16271800-16286400	Weak transcription	Psoas Muscle	Psoas
15	chr11:16272000-16272800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:16272800-16274000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:16273800-16274400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:16273800-16274400	Enhancers	Right Atrium	heart
19	chr11:16274000-16274200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:16274200-16274400	Enhancers	Pancreas	Pancrea
21	chr11:16279600-16300400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:16282200-16283600	Enhancers	HepG2	liver
23	chr11:16282400-16282600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr11:16282600-16283600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:16283600-16283800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr11:16283600-16284400	Enhancers	Fetal Intestine Small	intestine
27	chr11:16283600-16284400	Enhancers	A549	lung
28	chr11:16283600-16284400	Flanking Active TSS	HepG2	liver
29	chr11:16283600-16284600	Enhancers	Fetal Intestine Large	intestine
30	chr11:16283600-16284600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr11:16283600-16285000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:16283600-16285200	Enhancers	Liver	Liver
33	chr11:16283800-16284000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr11:16283800-16285200	Enhancers	Duodenum Mucosa	Duodenum
35	chr11:16283800-16285200	Enhancers	Fetal Heart	heart
36	chr11:16284000-16284600	Enhancers	Fetal Lung	lung
37	chr11:16284000-16285000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr11:16284400-16285200	Enhancers	HepG2	liver
39	chr11:16285000-16286400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:16286400-16286800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:16286400-16286800	Enhancers	Psoas Muscle	Psoas
42	chr11:16286800-16314800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:16289000-16289200	Weak transcription	Fetal Heart	heart
44	chr11:16289200-16289400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:16289400-16289600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:16289600-16290800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:16290800-16292400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:16292200-16292600	Enhancers	K562	blood
49	chr11:16292400-16301600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:16292600-16293000	Weak transcription	K562	blood

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