Variant report

Variant	nsv972045
Chromosome Location	chr11:74455539-74457180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:74457169-74457196	LNCaP	prostate:	n/a	n/a
2	CTCF	chr11:74456985-74456994	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr11:74457021-74457205	T-47D	breast:	n/a	n/a
4	FOS	chr11:74455359-74455638	HUVEC	blood vessel:	n/a	chr11:74455485-74455494 chr11:74455482-74455493 chr11:74455487-74455494 chr11:74455484-74455495
5	HEY1	chr11:74456827-74457188	K562	blood:	n/a	n/a
6	HEY1	chr11:74456794-74457174	HepG2	liver:	n/a	n/a
7	HEY1	chr11:74456865-74457045	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:74456876-74457099	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:74456760-74457122	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:74456691-74457142	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:74456601-74457343	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:74457164-74457212	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr11:74456745-74457158	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:74456780-74457146	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:74456817-74457141	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:74456874-74457064	K562	blood:	n/a	n/a
17	POLR2A	chr11:74456788-74457158	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3AK20	chr11:74457027-74457253	H1-hESC	embryonic stem cell:	n/a	n/a
19	SP1	chr11:74457004-74457258	H1-hESC	embryonic stem cell:	n/a	n/a
20	ZBTB33	chr11:74456710-74457390	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74457172-74457222	HCT-116	colon:	n/a
2	chr11:74457172-74457222	AG04449	skin:	fetal
3	chr11:74457172-74457222	HepG2	liver:	n/a
4	chr11:74457172-74457222	NHBE	bronchial:	n/a
5	chr11:74457172-74457222	H1-hESC	embryonic stem cell:	embryo
6	chr11:74457172-74457222	HEK293	kidney:	embryo
7	chr11:74457172-74457222	GM12878	blood:	n/a
8	chr11:74457172-74457222	T-47D	breast:	n/a
9	chr11:74457172-74457222	LNCaP	prostate:	n/a
10	chr11:74457172-74457222	HRCEpiC	kidney:	n/a
11	chr11:74457172-74457222	SK-N-MC	brain:	n/a
12	chr11:74457172-74457222	HRE	kidney:	n/a
13	chr11:74457172-74457222	GM12891	blood:	n/a
14	chr11:74457172-74457222	PFSK-1	brain:	n/a
15	chr11:74457172-74457222	MCF-7	breast:	n/a
16	chr11:74457172-74457222	BE2_C	brain:	n/a
17	chr11:74457172-74457222	NT2-D1	testis:	n/a
18	chr11:74457172-74457222	SKMC	muscle:	n/a
19	chr11:74457172-74457222	A549	lung:	n/a
20	chr11:74457172-74457222	Hela-S3	cervix:	n/a
21	chr11:74457172-74457222	IMR90	lung:	fetal
22	chr11:74457172-74457222	GM06990	blood:	n/a
23	chr11:74457172-74457222	SAEC	small airway:	n/a
24	chr11:74457172-74457222	Jurkat	blood:	n/a
25	chr11:74457172-74457222	K562	blood:	n/a
26	chr11:74457172-74457222	ovcar-3	ovarian:	n/a
27	chr11:74457172-74457222	RPTEC	kidney:	n/a
28	chr11:74457172-74457222	AoSMC	blood vessel:	n/a
29	chr11:74457172-74457222	HPAEpiC	pulmonary alveolar:	n/a
30	chr11:74457172-74457222	HCF	heart:	n/a
31	chr11:74457172-74457222	HRPEpiC	eye:	n/a
32	chr11:74457172-74457222	NHDF-neo	bronchial:	n/a
33	chr11:74457172-74457222	AG09319	gingival:	n/a
34	chr11:74457172-74457222	ProgFib	skin:	n/a
35	chr11:74457172-74457222	SK-N-SH_RA	brain:	n/a
36	chr11:74457172-74457222	Hepatocyte	liver:	n/a
37	chr11:74457172-74457222	MCF10A-Er-Src	breast:	n/a
38	chr11:74457172-74457222	AG04450	lung:	fetal
39	chr11:74457172-74457222	HMEC	breast:	n/a
40	chr11:74457172-74457222	U87	brain:	n/a
41	chr11:74457172-74457222	NB4	blood:	n/a
42	chr11:74457172-74457222	NH-A	brain:	n/a
43	chr11:74457172-74457222	AG10803	skin:	n/a
44	chr11:74457172-74457222	AG09309	skin:	n/a
45	chr11:74457172-74457222	ECC-1	luminal epithelium:	n/a
46	chr11:74457172-74457222	PANC-1	pancreas:	n/a
47	chr11:74457172-74457222	HNPCEpiC	eye:	n/a
48	chr11:74457172-74457222	CMK	blood:	n/a
49	chr11:74457172-74457222	HEEpiC	esophagus:	n/a
50	chr11:74457172-74457222	HCPEpiC	choroid plexus:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74449257..74451344-chr11:74454203..74457011,2	MCF-7	breast:
2	chr11:74440853..74443969-chr11:74454724..74458008,3	K562	blood:
3	chr11:74453237..74458015-chr11:74458314..74461324,7	MCF-7	breast:
4	chr11:74453289..74457790-chr11:74458093..74463010,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHRDL2-3	chr11:74457147-74457239	NONHSAT022915
2	lnc-CHRDL2-3	chr11:74456730-74456893	NONHSAT022915

No data

Variant related genes	Relation type
RNF169	TF binding region
ENSG00000227615	TF binding region
RNF169	CpG island
ENSG00000227615	CpG island
ENSG00000166439	chromatin interactions
ENSG00000054938	chromatin interactions
ENSG00000241097	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571024466	chr11:74455551-74455552	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs184733236	chr11:74455590-74455591	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs187979416	chr11:74455595-74455596	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs528681641	chr11:74455666-74455667	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs547345772	chr11:74455667-74455668	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs568656210	chr11:74455683-74455684	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs79160492	chr11:74455684-74455685	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs369248853	chr11:74455714-74455715	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs568635664	chr11:74455753-74455754	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs371567338	chr11:74455755-74455756	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs534431411	chr11:74455802-74455803	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs554424465	chr11:74455821-74455822	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs192832240	chr11:74455822-74455823	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs545130617	chr11:74455827-74455828	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs114029881	chr11:74455863-74455864	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs12049832	chr11:74455879-74455880	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs575236870	chr11:74455924-74455925	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs543861680	chr11:74455925-74455926	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs142122485	chr11:74455940-74455941	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs185219193	chr11:74455995-74455996	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs533220	chr11:74456003-74456004	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559917139	chr11:74456043-74456044	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs532132060	chr11:74456053-74456054	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs79175953	chr11:74456059-74456060	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs569246721	chr11:74456114-74456115	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs147790635	chr11:74456115-74456116	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs4944060	chr11:74456185-74456186	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs530344343	chr11:74456211-74456212	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs368595649	chr11:74456267-74456268	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs548278689	chr11:74456358-74456359	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs141158370	chr11:74456379-74456380	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs534520443	chr11:74456415-74456416	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs554461119	chr11:74456422-74456423	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs181291240	chr11:74456443-74456444	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs540030445	chr11:74456485-74456486	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs558666071	chr11:74456492-74456493	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs184023307	chr11:74456552-74456553	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs371365045	chr11:74456602-74456603	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs77891169	chr11:74456676-74456677	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs2018752	chr11:74456721-74456722	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs368734411	chr11:74456725-74456726	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs17151135	chr11:74456738-74456739	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs56741907	chr11:74456739-74456740	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs1140927	chr11:74456740-74456741	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs1071670	chr11:74456741-74456742	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs60871181	chr11:74456762-74456763	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs146927619	chr11:74456787-74456788	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs540145682	chr11:74456788-74456789	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs28361297	chr11:74456807-74456808	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs61746227	chr11:74456809-74456810	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74445600-74459000	Weak transcription	A549	lung
2	chr11:74451200-74455600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:74451400-74457600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr11:74451400-74458600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:74451400-74458800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:74453400-74459000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:74454400-74457800	Weak transcription	HepG2	liver
8	chr11:74454800-74456000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:74455000-74455800	Enhancers	Lung	lung
10	chr11:74455000-74455800	Enhancers	NHLF	lung
11	chr11:74455200-74455600	Enhancers	HUVEC	blood vessel
12	chr11:74455200-74455800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:74455200-74456000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:74455600-74456000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:74455600-74456600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr11:74455600-74456600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:74455600-74459000	Weak transcription	HUVEC	blood vessel
18	chr11:74455800-74456600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:74455800-74458800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:74455800-74459000	Weak transcription	NHLF	lung
21	chr11:74455800-74459200	Weak transcription	Lung	lung
22	chr11:74456000-74458600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:74456000-74459200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:74456600-74458800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:74456600-74459000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:74456800-74457000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:74457000-74457200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:74457000-74458600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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