Variant report

Variant	esv3423573
Chromosome Location	chr11:17569796-17570125
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	CHD1	chr11:17569793-17569873	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr11:17570100-17570250	SK-N-SH_RA	brain:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
3	CTCF	chr11:17569610-17569806	MCF-7	breast:	n/a	n/a
4	CTCF	chr11:17570100-17570250	HCM	heart:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
5	CTCF	chr11:17569961-17570390	K562	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
6	CTCF	chr11:17570123-17570254	MCF-7	breast:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
7	CTCF	chr11:17569680-17569830	GM06990	blood:	n/a	n/a
8	CTCF	chr11:17569580-17569830	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr11:17570100-17570250	HepG2	liver:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
10	CTCF	chr11:17570117-17570296	K562	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
11	CTCF	chr11:17570120-17570270	HBMEC	blood vessel:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
12	CTCF	chr11:17569700-17569850	GM12865	blood:	n/a	n/a
13	CTCF	chr11:17569948-17570282	H1-hESC	embryonic stem cell:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
14	CTCF	chr11:17570080-17570230	GM12864	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
15	CTCF	chr11:17570080-17570230	NB4	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
16	CTCF	chr11:17570100-17570250	HCPEpiC	choroid plexus:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
17	CTCF	chr11:17569966-17570361	H1-hESC	embryonic stem cell:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
18	CTCF	chr11:17570080-17570230	GM12875	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
19	CTCF	chr11:17569680-17569830	HCT-116	colon:	n/a	n/a
20	CTCF	chr11:17570062-17570251	K562	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
21	CTCF	chr11:17569492-17569858	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr11:17569579-17569812	MCF-7	breast:	n/a	n/a
23	CTCF	chr11:17570100-17570250	K562	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
24	CTCF	chr11:17570100-17570250	HCFaa	heart:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
25	CTCF	chr11:17570120-17570270	HAc	cerebellar:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
26	CTCF	chr11:17570080-17570230	HFF-Myc	foreskin:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
27	CTCF	chr11:17570120-17570270	RPTEC	kidney:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
28	CTCF	chr11:17569660-17569810	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr11:17570055-17570373	K562	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
30	CTCF	chr11:17570020-17570170	BJ	skin:	n/a	n/a
31	CTCF	chr11:17570080-17570230	GM12865	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
32	CTCF	chr11:17570120-17570270	GM06990	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
33	CTCF	chr11:17570060-17570330	NHEK	skin:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
34	CTCF	chr11:17570107-17570276	MCF-7	breast:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
35	CTCF	chr11:17570080-17570230	GM12869	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
36	CTCF	chr11:17570100-17570250	HEK293	kidney:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
37	CTCF	chr11:17569800-17569950	A549	lung:	n/a	n/a
38	CTCF	chr11:17569660-17569810	NB4	blood:	n/a	n/a
39	CTCF	chr11:17570100-17570250	HMF	breast:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
40	CTCF	chr11:17570000-17570150	GM12864	blood:	n/a	n/a
41	CTCF	chr11:17570100-17570250	NHEK	skin:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
42	CTCF	chr11:17570100-17570250	GM12873	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
43	CTCF	chr11:17569760-17569910	A549	lung:	n/a	n/a
44	CTCF	chr11:17569660-17569810	GM12867	blood:	n/a	n/a
45	CTCF	chr11:17570120-17570270	BE2_C	brain:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
46	CTCF	chr11:17570106-17570265	H1-hESC	embryonic stem cell:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
47	CTCF	chr11:17570100-17570250	HBMEC	blood vessel:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
48	CTCF	chr11:17569700-17569850	HRE	kidney:	n/a	n/a
49	CTCF	chr11:17570120-17570270	Caco-2	colon:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
50	CTCF	chr11:17570094-17570279	HepG2	liver:	n/a	chr11:17570198-17570208 chr11:17570201-17570210

No.	Distal block	Cell Line	Cell type
1	chr11:17567135..17572180-chr11:17576316..17581948,6	K562	blood:
2	chr11:17569821..17570438-chr11:17586271..17587120,2	MCF-7	breast:
3	chr11:17563988..17566643-chr11:17568666..17571231,2	MCF-7	breast:

Variant related genes	Relation type
USH1C	TF binding region
ENSG00000188162	chromatin interactions
ENSG00000006611	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60788443	chr11:17569816-17569817	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs147457243	chr11:17569829-17569830	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs564862751	chr11:17569882-17569883	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs58569858	chr11:17569885-17569886	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12360953	chr11:17569900-17569901	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs139901346	chr11:17569963-17569964	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs201506879	chr11:17569965-17569966	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs539845437	chr11:17569966-17569967	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs56402246	chr11:17569984-17569985	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs550868353	chr11:17570033-17570034	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs7945214	chr11:17570078-17570079	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs59155151	chr11:17570089-17570090	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs529936486	chr11:17570104-17570105	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs183540350	chr11:17570114-17570115	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs60055533	chr11:17570120-17570121	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	21785460	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
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17565800-17571000	Weak transcription	Right Atrium	heart
2	chr11:17566200-17570400	Weak transcription	Pancreas	Pancrea
3	chr11:17568400-17569800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:17568600-17571000	Enhancers	Fetal Intestine Small	intestine
5	chr11:17569200-17572200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:17569200-17576600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:17569400-17569800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr11:17569400-17570000	Enhancers	Fetal Intestine Large	intestine
9	chr11:17569400-17570200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:17569600-17569800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:17569600-17570000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr11:17569600-17570000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr11:17569600-17570000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr11:17569600-17570000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
15	chr11:17569600-17571200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:17569600-17572400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:17569600-17574000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:17569800-17570000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr11:17570000-17570200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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