Variant report

Variant	esv3311729
Chromosome Location	chr15:40821723-40823701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:40822920-40823070	HepG2	liver:	n/a	n/a
2	CTCF	chr15:40823006-40823059	Fibrobl	skin:	n/a	n/a
3	CTCF	chr15:40822979-40823138	HepG2	liver:	n/a	n/a
4	CTCF	chr15:40823000-40823150	HepG2	liver:	n/a	n/a
5	CTCF	chr15:40822720-40822870	HepG2	liver:	n/a	n/a
6	CTCF	chr15:40822860-40823010	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr15:40822927-40823195	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr15:40822992-40823152	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr15:40822967-40823159	HepG2	liver:	n/a	n/a
10	RAD21	chr15:40822831-40823238	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr15:40822949-40823161	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40811570..40813776-chr15:40823296..40826811,3	K562	blood:
2	chr15:40811763..40813776-chr15:40823296..40825931,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPUSD2-2	chr15:40821492-40822691	ucscGeneNc_uc001zqm_2

No data

Variant related genes	Relation type
RNU6-516P	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7170274	chr15:40821728-40821729	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs565423810	chr15:40821782-40821783	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs534658457	chr15:40821832-40821833	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs551077912	chr15:40821883-40821884	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs377541143	chr15:40821897-40821898	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs182022738	chr15:40821932-40821933	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs548355494	chr15:40821942-40821943	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs536899254	chr15:40821955-40821956	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs371185272	chr15:40821971-40821972	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs530929600	chr15:40822013-40822014	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs573845367	chr15:40822064-40822065	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs536434481	chr15:40822082-40822083	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs373388133	chr15:40822116-40822117	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs553530713	chr15:40822152-40822153	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs552340655	chr15:40822159-40822160	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs545427453	chr15:40822160-40822161	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs116656000	chr15:40822189-40822190	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs370093427	chr15:40822243-40822244	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs201763431	chr15:40822259-40822260	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs561164054	chr15:40822307-40822308	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs530267056	chr15:40822334-40822335	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs540407131	chr15:40822407-40822408	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs186361303	chr15:40822473-40822474	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs528131470	chr15:40822482-40822483	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs3068017	chr15:40822490-40822491	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs111694106	chr15:40822491-40822492	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs71132190	chr15:40822509-40822510	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs551356381	chr15:40822520-40822521	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs370718525	chr15:40822552-40822553	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs190957689	chr15:40822573-40822574	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs138915938	chr15:40822610-40822611	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs142138436	chr15:40822645-40822646	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs180862634	chr15:40822653-40822654	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs373863692	chr15:40822666-40822667	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs534698415	chr15:40822676-40822677	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs112273924	chr15:40822687-40822688	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs3067991	chr15:40822729-40822730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368853815	chr15:40822730-40822731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140063030	chr15:40822733-40822734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58714083	chr15:40822743-40822744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186389502	chr15:40822778-40822779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553195778	chr15:40822782-40822783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566967141	chr15:40822870-40822871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35147425	chr15:40822922-40822923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548391110	chr15:40822923-40822924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs58993118	chr15:40822934-40822935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200558681	chr15:40822935-40822936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538711817	chr15:40822963-40822964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113185325	chr15:40822966-40822967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73384313	chr15:40822999-40823000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40805200-40828200	Weak transcription	Placenta	Placenta
2	chr15:40805200-40833000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:40812400-40828600	Weak transcription	Primary T cells from cord blood	blood
4	chr15:40812400-40828600	Weak transcription	Right Ventricle	heart
5	chr15:40812400-40828800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:40812400-40828800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:40812400-40829000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:40812400-40829000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:40812400-40831000	Weak transcription	Thymus	Thymus
10	chr15:40812400-40837800	Weak transcription	Lung	lung
11	chr15:40812600-40826000	Weak transcription	Adipose Nuclei	Adipose
12	chr15:40812600-40826400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr15:40812600-40827000	Weak transcription	Spleen	Spleen
14	chr15:40812600-40831400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:40812600-40840600	Weak transcription	Hela-S3	cervix
16	chr15:40816600-40826200	Weak transcription	GM12878-XiMat	blood
17	chr15:40816800-40835000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:40816800-40845600	Weak transcription	Ovary	ovary
19	chr15:40817800-40821800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr15:40818200-40828000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:40818400-40828200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:40819200-40831200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:40819400-40828000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:40819400-40830200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:40819400-40831200	Weak transcription	Gastric	stomach
26	chr15:40819600-40845000	Weak transcription	Pancreas	Pancrea
27	chr15:40820800-40833800	Weak transcription	K562	blood
28	chr15:40821000-40826800	Weak transcription	Primary B cells from cord blood	blood
29	chr15:40821200-40828800	Weak transcription	Fetal Intestine Small	intestine
30	chr15:40821400-40827800	Weak transcription	Fetal Stomach	stomach
31	chr15:40821400-40836800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr15:40821400-40848000	Weak transcription	Brain Anterior Caudate	brain
33	chr15:40821800-40826600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:40821800-40840400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:40821800-40856400	Weak transcription	Colon Smooth Muscle	Colon
36	chr15:40822600-40831400	Weak transcription	Aorta	Aorta
37	chr15:40822600-40856400	Weak transcription	Small Intestine	intestine
38	chr15:40822800-40831200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr15:40823200-40825200	Weak transcription	Fetal Muscle Leg	muscle
40	chr15:40823200-40839600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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