Variant report

Variant	esv3371730
Chromosome Location	chr1:220132854-220135702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:220133296-220133448	K562	blood:	n/a	n/a
2	BACH1	chr1:220133249-220133472	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:220133179-220133482	K562	blood:	n/a	n/a
4	CBX3	chr1:220133132-220133547	K562	blood:	n/a	n/a
5	CTCFL	chr1:220135347-220135490	K562	blood:	n/a	n/a
6	ELF1	chr1:220133186-220133548	K562	blood:	n/a	n/a
7	EP300	chr1:220133208-220133425	K562	blood:	n/a	n/a
8	HCFC1	chr1:220133207-220133341	K562	blood:	n/a	n/a
9	IRF1	chr1:220135288-220135304	K562	blood:	n/a	n/a
10	JUND	chr1:220135151-220135337	K562	blood:	n/a	n/a
11	KAP1	chr1:220131650-220133464	HEK293	kidney:	n/a	n/a
12	KAP1	chr1:220131954-220133477	U2OS	brain:	n/a	n/a
13	MAFF	chr1:220133215-220133484	HepG2	liver:	n/a	chr1:220133344-220133362
14	MAFF	chr1:220133181-220133457	K562	blood:	n/a	chr1:220133344-220133362
15	MAFK	chr1:220133212-220133494	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAFK	chr1:220133224-220133511	HepG2	liver:	n/a	n/a
17	MAFK	chr1:220133210-220133479	K562	blood:	n/a	n/a
18	MYC	chr1:220135087-220135207	K562	blood:	n/a	n/a
19	MYC	chr1:220133482-220133540	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr1:220133272-220133381	H1-hESC	embryonic stem cell:	n/a	n/a
21	RCOR1	chr1:220133186-220133449	K562	blood:	n/a	n/a
22	RCOR1	chr1:220133192-220133440	K562	blood:	n/a	n/a
23	RCOR1	chr1:220135088-220135299	K562	blood:	n/a	n/a
24	REST	chr1:220134541-220134744	K562	blood:	n/a	n/a
25	TBL1XR1	chr1:220133242-220133513	K562	blood:	n/a	n/a
26	USF2	chr1:220133281-220133472	K562	blood:	n/a	n/a
27	ZC3H11A	chr1:220133206-220133492	K562	blood:	n/a	n/a
28	ZNF143	chr1:220133234-220133420	K562	blood:	n/a	n/a
29	ZNF143	chr1:220133230-220133456	H1-hESC	embryonic stem cell:	n/a	n/a
30	ZNF274	chr1:220132928-220133511	K562	blood:	n/a	n/a
31	ZNF384	chr1:220135384-220135527	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
SLC30A10	TF binding region
ENSG00000221673	TF binding region

Extended variants
information (count: 182 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528124661	chr1:220132898-220132899	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs6663868	chr1:220132906-220132907	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs543797766	chr1:220132931-220132932	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs181988403	chr1:220132935-220132936	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs11118471	chr1:220132961-220132962	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577389955	chr1:220132973-220132974	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs367590551	chr1:220132999-220133000	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs375652229	chr1:220133048-220133049	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs570117136	chr1:220133068-220133069	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs77720185	chr1:220133080-220133081	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs185995386	chr1:220133104-220133105	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs566366755	chr1:220133106-220133107	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs6663947	chr1:220133115-220133116	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs6699954	chr1:220133129-220133130	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs578062755	chr1:220133144-220133145	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs6663964	chr1:220133150-220133151	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs190957918	chr1:220133156-220133157	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs370826143	chr1:220133219-220133220	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs141145921	chr1:220133230-220133231	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs367940539	chr1:220133279-220133280	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs542412221	chr1:220133281-220133282	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs77685442	chr1:220133306-220133307	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs572761000	chr1:220133324-220133325	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs11118472	chr1:220133340-220133341	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs564699786	chr1:220133345-220133346	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs181265624	chr1:220133357-220133358	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs13375889	chr1:220133364-220133365	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550614500	chr1:220133368-220133369	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs560960993	chr1:220133370-220133371	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs570597689	chr1:220133391-220133392	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs186374282	chr1:220133400-220133401	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs529551811	chr1:220133418-220133419	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs549558056	chr1:220133446-220133447	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs566376962	chr1:220133456-220133457	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs535305231	chr1:220133462-220133463	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs551766382	chr1:220133487-220133488	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs190448581	chr1:220133508-220133509	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs571585417	chr1:220133516-220133517	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs375430929	chr1:220133602-220133603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200208175	chr1:220133609-220133610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183097972	chr1:220133611-220133612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71169418	chr1:220133637-220133638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12145500	chr1:220133643-220133644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12142050	chr1:220133645-220133646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12142052	chr1:220133653-220133654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12145502	chr1:220133655-220133656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376123846	chr1:220133660-220133661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12409859	chr1:220133663-220133664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184015888	chr1:220133664-220133665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544167774	chr1:220133665-220133666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220129200-220145800	Weak transcription	HepG2	liver
2	chr1:220129400-220133000	Weak transcription	Small Intestine	intestine
3	chr1:220132000-220133400	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr1:220132000-220138800	Weak transcription	Aorta	Aorta
5	chr1:220132200-220144200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:220132400-220133000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:220132400-220133400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:220132400-220133600	Enhancers	Fetal Intestine Large	intestine
9	chr1:220132400-220143200	Weak transcription	Colonic Mucosa	Colon
10	chr1:220132600-220133600	Enhancers	Fetal Intestine Small	intestine
11	chr1:220132800-220133000	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:220132800-220133000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr1:220132800-220133000	Weak transcription	K562	blood
14	chr1:220132800-220141000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:220132800-220177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:220133000-220133200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
17	chr1:220133000-220133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:220133000-220133600	Enhancers	Small Intestine	intestine
19	chr1:220133000-220133600	Enhancers	K562	blood
20	chr1:220133000-220141200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:220133400-220133600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:220133400-220138600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:220133600-220134600	Weak transcription	K562	blood
24	chr1:220133600-220140800	Weak transcription	Fetal Intestine Large	intestine
25	chr1:220133600-220141000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:220133600-220142200	Weak transcription	Small Intestine	intestine
27	chr1:220134600-220135000	Enhancers	K562	blood
28	chr1:220135000-220135200	Flanking Active TSS	K562	blood
29	chr1:220135200-220135400	Enhancers	K562	blood
30	chr1:220135400-220137800	Weak transcription	K562	blood

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