Variant report

Variant	nsv971999
Chromosome Location	chr11:33210606-33212073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr11:33211570-33211750	A549	lung:	n/a	n/a
2	MAX	chr11:33211708-33212027	K562	blood:	n/a	n/a
3	MYC	chr11:33210668-33210767	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:33211904-33212225	ProgFib	skin:	n/a	n/a
5	POLR2A	chr11:33211619-33211754	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:33211414-33211464	HRCEpiC	kidney:	n/a
2	chr11:33211414-33211464	AG10803	skin:	n/a
3	chr11:33211414-33211464	HEEpiC	esophagus:	n/a
4	chr11:33211414-33211464	U87	brain:	n/a
5	chr11:33211414-33211464	ovcar-3	ovarian:	n/a
6	chr11:33211414-33211464	HMEC	breast:	n/a
7	chr11:33211414-33211464	HUVEC	blood vessel:	n/a
8	chr11:33211414-33211464	HPAEpiC	pulmonary alveolar:	n/a
9	chr11:33211414-33211464	Caco-2	colon:	n/a
10	chr11:33211414-33211464	A549	lung:	n/a
11	chr11:33211414-33211464	HCF	heart:	n/a
12	chr11:33211414-33211464	RPTEC	kidney:	n/a
13	chr11:33211414-33211464	SAEC	small airway:	n/a
14	chr11:33211414-33211464	GM12891	blood:	n/a
15	chr11:33211414-33211464	NHBE	bronchial:	n/a
16	chr11:33211414-33211464	HIPEpiC	eye:	n/a
17	chr11:33211414-33211464	NB4	blood:	n/a
18	chr11:33211414-33211464	IMR90	lung:	fetal
19	chr11:33211414-33211464	MCF10A-Er-Src	breast:	n/a
20	chr11:33211414-33211464	HCT-116	colon:	n/a
21	chr11:33211414-33211464	SK-N-MC	brain:	n/a
22	chr11:33211414-33211464	BJ	skin:	n/a
23	chr11:33211414-33211464	H1-hESC	embryonic stem cell:	embryo
24	chr11:33211414-33211464	PANC-1	pancreas:	n/a
25	chr11:33211414-33211464	PFSK-1	brain:	n/a
26	chr11:33211414-33211464	NHDF-neo	bronchial:	n/a
27	chr11:33211414-33211464	HCM	heart:	n/a
28	chr11:33211414-33211464	GM19239	blood:	n/a
29	chr11:33211414-33211464	AG09309	skin:	n/a
30	chr11:33211414-33211464	HCPEpiC	choroid plexus:	n/a
31	chr11:33211414-33211464	SK-N-SH	brain:	n/a
32	chr11:33211414-33211464	AG09319	gingival:	n/a
33	chr11:33211414-33211464	GM12892	blood:	n/a
34	chr11:33211414-33211464	GM06990	blood:	n/a
35	chr11:33211414-33211464	HRPEpiC	eye:	n/a
36	chr11:33211414-33211464	HNPCEpiC	eye:	n/a
37	chr11:33211414-33211464	NH-A	brain:	n/a
38	chr11:33211414-33211464	SKMC	muscle:	n/a
39	chr11:33211414-33211464	Hepatocyte	liver:	n/a
40	chr11:33211414-33211464	ProgFib	skin:	n/a
41	chr11:33211414-33211464	Jurkat	blood:	n/a
42	chr11:33211414-33211464	HEK293	kidney:	embryo
43	chr11:33211414-33211464	AG04449	skin:	fetal
44	chr11:33211414-33211464	BE2_C	brain:	n/a
45	chr11:33211414-33211464	HepG2	liver:	n/a
46	chr11:33211414-33211464	ECC-1	luminal epithelium:	n/a
47	chr11:33211414-33211464	Hela-S3	cervix:	n/a
48	chr11:33211414-33211464	PrEC	prostate:	n/a
49	chr11:33211414-33211464	HL-60	blood:	n/a
50	chr11:33211414-33211464	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:33209345..33211297-chr11:33213358..33214880,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSTF3-3	chr11:33211608-33212049	NONHSAT018693
2	lnc-TCP11L1-1	chr11:33210914-33211103	NONHSAT018691
3	lnc-TCP11L1-1	chr11:33211479-33211840	ENSG00000247151
4	lnc-TCP11L1-1	chr11:33211479-33213142	NONHSAT018691
5	lnc-TCP11L1-1	chr11:33210914-33211103	ENSG00000247151
6	lnc-TCP11L1-1	chr11:33211479-33213144	ENSG00000247151

No data

Variant related genes	Relation type
RPL29P23	TF binding region
RPL29P23	CpG island
PSME3	miRNA target sites
ARID2	miRNA target sites

Extended variants
information (count: 54 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187435405	chr11:33210634-33210635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576874667	chr11:33210643-33210644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559209626	chr11:33210651-33210652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544024057	chr11:33210661-33210662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528400257	chr11:33210686-33210687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371303281	chr11:33210687-33210688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111886177	chr11:33210733-33210734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553428368	chr11:33210777-33210778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143626152	chr11:33210814-33210815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527756483	chr11:33210855-33210856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376821790	chr11:33210862-33210863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537111342	chr11:33210870-33210871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551058674	chr11:33210951-33210952	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs191567331	chr11:33210967-33210968	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs183996102	chr11:33211007-33211008	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs553430510	chr11:33211009-33211010	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs572354703	chr11:33211015-33211016	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs536168347	chr11:33211065-33211066	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs555637860	chr11:33211087-33211088	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs34288893	chr11:33211103-33211104	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs575796172	chr11:33211114-33211115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544523343	chr11:33211158-33211159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11602835	chr11:33211164-33211165	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs11032198	chr11:33211190-33211191	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs147193155	chr11:33211238-33211239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139599746	chr11:33211256-33211257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528336441	chr11:33211367-33211368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541732287	chr11:33211373-33211374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73482881	chr11:33211376-33211377	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs375595089	chr11:33211415-33211416	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560113810	chr11:33211460-33211461	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35575903	chr11:33211479-33211480	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs550535105	chr11:33211497-33211498	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs149749101	chr11:33211498-33211499	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs144217230	chr11:33211502-33211503	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs560300239	chr11:33211534-33211535	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs565184296	chr11:33211573-33211574	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs566879199	chr11:33211602-33211603	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs148710763	chr11:33211622-33211623	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs556021362	chr11:33211639-33211640	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs187459195	chr11:33211695-33211696	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs538421107	chr11:33211737-33211738	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs192687847	chr11:33211738-33211739	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs72908730	chr11:33211791-33211792	Enhancers Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545508939	chr11:33211921-33211922	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs7929507	chr11:33211922-33211923	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs572509097	chr11:33211930-33211931	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs143635551	chr11:33211985-33211986	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs184533021	chr11:33212016-33212017	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs530741106	chr11:33212026-33212027	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33201600-33213400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:33202000-33211400	Weak transcription	Dnd41	blood
3	chr11:33206800-33211400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:33208000-33211000	Enhancers	Fetal Muscle Leg	muscle
5	chr11:33209600-33210800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:33209600-33218000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:33210000-33217000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:33210000-33217000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:33210400-33212800	Weak transcription	HSMMtube	muscle
10	chr11:33210400-33219800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:33210600-33212800	Weak transcription	Fetal Intestine Small	intestine
12	chr11:33210600-33214200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr11:33210600-33214400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:33210800-33219800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:33211000-33211600	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:33211400-33211600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:33211400-33211800	Enhancers	Fetal Muscle Trunk	muscle
18	chr11:33211400-33212000	Strong transcription	Dnd41	blood
19	chr11:33211600-33211800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:33211600-33211800	Enhancers	Fetal Muscle Leg	muscle
21	chr11:33211600-33212800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:33211800-33214200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:33211800-33216400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:33211800-33216400	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:33212000-33216200	Weak transcription	Dnd41	blood

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