Variant report

Variant	esv2759433
Chromosome Location	chr6:58334709-58479699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:212)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:212 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:58385936-58386118	IMR90	lung:	n/a	n/a
2	CEBPB	chr6:58441968-58442111	HepG2	liver:	n/a	chr6:58442072-58442083 chr6:58442073-58442084
3	CEBPB	chr6:58357831-58357857	HepG2	liver:	n/a	chr6:58357833-58357844 chr6:58357834-58357845
4	CHD2	chr6:58364578-58364789	K562	blood:	n/a	n/a
5	CTCF	chr6:58361691-58361743	GM20000	blood:	n/a	n/a
6	CTCF	chr6:58361658-58361698	Gliobla	brain:	n/a	n/a
7	CTCF	chr6:58418308-58418469	LNCaP	prostate:	n/a	n/a
8	CTCF	chr6:58415157-58415161	GM20000	blood:	n/a	n/a
9	CTCF	chr6:58374270-58374445	GM12878	blood:	n/a	n/a
10	CTCF	chr6:58440320-58440470	NHEK	skin:	n/a	n/a
11	CTCF	chr6:58418286-58418455	MCF-7	breast:	n/a	n/a
12	CTCF	chr6:58374260-58374410	NHEK	skin:	n/a	n/a
13	CTCF	chr6:58374278-58374396	K562	blood:	n/a	n/a
14	CTCF	chr6:58374296-58374396	GM13977	blood:	n/a	n/a
15	CTCF	chr6:58415647-58415708	Lung_OC	lung:	n/a	n/a
16	CTCF	chr6:58418277-58418477	MCF-7	breast:	n/a	n/a
17	CTCF	chr6:58361598-58361769	GM12878	blood:	n/a	n/a
18	CTCF	chr6:58451233-58451313	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr6:58374379-58374383	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr6:58374314-58374354	GM10266	blood:	n/a	n/a
21	CTCF	chr6:58374247-58374475	NHEK	skin:	n/a	n/a
22	CTCF	chr6:58440410-58440424	LNCaP	prostate:	n/a	n/a
23	CTCF	chr6:58361625-58361765	K562	blood:	n/a	n/a
24	CTCF	chr6:58374281-58374422	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr6:58440320-58440470	HEK293	kidney:	n/a	n/a
26	CTCF	chr6:58378138-58378207	GM20000	blood:	n/a	n/a
27	CTCF	chr6:58374274-58374447	Fibrobl	skin:	n/a	n/a
28	CTCF	chr6:58415110-58415127	GM20000	blood:	n/a	n/a
29	CTCF	chr6:58374280-58374430	NHEK	skin:	n/a	n/a
30	CTCF	chr6:58361644-58361678	ProgFib	skin:	n/a	n/a
31	CTCF	chr6:58374269-58374413	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr6:58376782-58376866	LNCaP	prostate:	n/a	n/a
33	CTCF	chr6:58418346-58418400	GM12878	blood:	n/a	n/a
34	CTCF	chr6:58403200-58403277	GM10266	blood:	n/a	n/a
35	CTCF	chr6:58462645-58462692	GM10248	blood:	n/a	n/a
36	CTCF	chr6:58418891-58419040	Medullo	brain:	n/a	n/a
37	CTCF	chr6:58374280-58374430	HMF	breast:	n/a	n/a
38	CTCF	chr6:58374320-58374470	BJ	skin:	n/a	n/a
39	CTCF	chr6:58390766-58390791	GM13976	blood:	n/a	n/a
40	CTCF	chr6:58374290-58374445	MCF-7	breast:	n/a	n/a
41	CTCF	chr6:58361666-58361731	LNCaP	prostate:	n/a	n/a
42	CTCF	chr6:58364337-58364421	GM20000	blood:	n/a	n/a
43	CTCF	chr6:58374300-58374450	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr6:58471105-58471184	GM20000	blood:	n/a	n/a
45	CTCF	chr6:58477235-58477305	GM20000	blood:	n/a	n/a
46	CTCF	chr6:58374400-58374550	HMEC	breast:	n/a	chr6:58374478-58374486
47	CTCF	chr6:58374280-58374430	AG09309	skin:	n/a	n/a
48	CTCF	chr6:58418315-58418417	GM12891	blood:	n/a	n/a
49	CTCF	chr6:58374277-58374377	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr6:58383485-58383517	Fibrobl	skin:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:58399664-58399714	AG09319	gingival:	n/a
2	chr6:58399793-58399843	SAEC	small airway:	n/a
3	chr6:58399664-58399714	T-47D	breast:	n/a
4	chr6:58399599-58399649	H1-hESC	embryonic stem cell:	embryo
5	chr6:58399599-58399649	HIPEpiC	eye:	n/a
6	chr6:58399793-58399843	SK-N-MC	brain:	n/a
7	chr6:58399599-58399649	SK-N-SH	brain:	n/a
8	chr6:58399793-58399843	RPTEC	kidney:	n/a
9	chr6:58399664-58399714	HepG2	liver:	n/a
10	chr6:58399599-58399649	GM12892	blood:	n/a
11	chr6:58399599-58399649	NHDF-neo	bronchial:	n/a
12	chr6:58399664-58399714	NT2-D1	testis:	n/a
13	chr6:58399664-58399714	NHDF-neo	bronchial:	n/a
14	chr6:58399599-58399649	GM12891	blood:	n/a
15	chr6:58399793-58399843	ProgFib	skin:	n/a
16	chr6:58399599-58399649	Hela-S3	cervix:	n/a
17	chr6:58399793-58399843	NH-A	brain:	n/a
18	chr6:58399793-58399843	PrEC	prostate:	n/a
19	chr6:58399793-58399843	HL-60	blood:	n/a
20	chr6:58399664-58399714	Caco-2	colon:	n/a
21	chr6:58399664-58399714	HEEpiC	esophagus:	n/a
22	chr6:58399793-58399843	HUVEC	blood vessel:	n/a
23	chr6:58399664-58399714	SKMC	muscle:	n/a
24	chr6:58399599-58399649	HAEpiC	amniotic membrane:	n/a
25	chr6:58399793-58399843	HNPCEpiC	eye:	n/a
26	chr6:58399664-58399714	HNPCEpiC	eye:	n/a
27	chr6:58399599-58399649	U87	brain:	n/a
28	chr6:58399793-58399843	HEEpiC	esophagus:	n/a
29	chr6:58399664-58399714	GM06990	blood:	n/a
30	chr6:58399664-58399714	AG09309	skin:	n/a
31	chr6:58399664-58399714	HRPEpiC	eye:	n/a
32	chr6:58399599-58399649	HEEpiC	esophagus:	n/a
33	chr6:58399599-58399649	PFSK-1	brain:	n/a
34	chr6:58399599-58399649	BJ	skin:	n/a
35	chr6:58399664-58399714	IMR90	lung:	fetal
36	chr6:58399599-58399649	HCT-116	colon:	n/a
37	chr6:58399599-58399649	Caco-2	colon:	n/a
38	chr6:58399793-58399843	Jurkat	blood:	n/a
39	chr6:58399599-58399649	T-47D	breast:	n/a
40	chr6:58399599-58399649	HMEC	breast:	n/a
41	chr6:58399664-58399714	AG04449	skin:	fetal
42	chr6:58399599-58399649	NT2-D1	testis:	n/a
43	chr6:58399599-58399649	LNCaP	prostate:	n/a
44	chr6:58399664-58399714	Hela-S3	cervix:	n/a
45	chr6:58399599-58399649	SK-N-MC	brain:	n/a
46	chr6:58399599-58399649	ovcar-3	ovarian:	n/a
47	chr6:58399599-58399649	AG04449	skin:	fetal
48	chr6:58399664-58399714	ECC-1	luminal epithelium:	n/a
49	chr6:58399664-58399714	NB4	blood:	n/a
50	chr6:58399599-58399649	GM06990	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB23-19	chr6:58397998-58399412	NONHSAT113321

No data

Variant related genes	Relation type
ENSG00000216687	TF binding region
RBBP4P4	TF binding region
ENSG00000216687	CpG island
RBBP4P4	CpG island

Extended variants
information (count: 913 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:913 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6923595	chr6:58334732-58334733	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2398070	chr6:58334746-58334747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2398071	chr6:58334773-58334774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2398072	chr6:58334802-58334803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114373370	chr6:58334817-58334818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2398073	chr6:58334837-58334838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552637075	chr6:58334854-58334855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2398074	chr6:58334859-58334860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2398075	chr6:58334925-58334926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs566348969	chr6:58334926-58334927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2398076	chr6:58334942-58334943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558201791	chr6:58334948-58334949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576559065	chr6:58334955-58334956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374388858	chr6:58334965-58334966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559738915	chr6:58334976-58334977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575076264	chr6:58335067-58335068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6912152	chr6:58335076-58335077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2398077	chr6:58335083-58335084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2895027	chr6:58335085-58335086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145889542	chr6:58335184-58335185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530896087	chr6:58335187-58335188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552629419	chr6:58335193-58335194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185628909	chr6:58335210-58335211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11968708	chr6:58335229-58335230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190043842	chr6:58335245-58335246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565688451	chr6:58335261-58335262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11211676	chr6:58335268-58335269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35744488	chr6:58335276-58335277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568628106	chr6:58335359-58335360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568581038	chr6:58335372-58335373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548149846	chr6:58335406-58335407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375954438	chr6:58335431-58335432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536628180	chr6:58335493-58335494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184684232	chr6:58335502-58335503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1343372	chr6:58335553-58335554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs1343371	chr6:58335606-58335607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs553038686	chr6:58335619-58335620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577208086	chr6:58335698-58335699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12195326	chr6:58335721-58335722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs990885	chr6:58335793-58335794	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
41	rs557662903	chr6:58335805-58335806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576039862	chr6:58335884-58335885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs990886	chr6:58336003-58336004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs564517062	chr6:58336218-58336219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114811859	chr6:58336256-58336257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540327252	chr6:58336286-58336287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562227022	chr6:58336307-58336308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370895950	chr6:58336320-58336321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573111296	chr6:58336356-58336357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529822165	chr6:58336361-58336362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58334000-58334800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr6:58334400-58335000	Enhancers	Ovary	ovary
3	chr6:58334800-58340000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:58335000-58337600	Weak transcription	Ovary	ovary
5	chr6:58340200-58340400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr6:58342800-58343800	Enhancers	HepG2	liver
7	chr6:58354000-58354800	Enhancers	Fetal Muscle Leg	muscle
8	chr6:58354200-58354800	Enhancers	Brain Cingulate Gyrus	brain
9	chr6:58374000-58374200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:58382800-58383000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:58383000-58385200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:58385200-58385600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:58385400-58386000	Enhancers	Osteobl	bone
14	chr6:58385600-58386000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:58385600-58386000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:58385600-58386000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:58385600-58386000	Enhancers	Brain Anterior Caudate	brain
18	chr6:58385600-58386000	Enhancers	HSMM	muscle
19	chr6:58385800-58386200	Enhancers	Adipose Nuclei	Adipose
20	chr6:58394000-58394800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:58399600-58399800	ZNF genes & repeats	Gastric	stomach
22	chr6:58399600-58400000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:58417400-58419000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:58417800-58418800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr6:58417800-58419000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr6:58439600-58440400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:58440000-58440400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:58440000-58440600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr6:58440000-58440600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr6:58440000-58441000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:58440200-58441000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:58440400-58440800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:58440800-58441000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:58441000-58443600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:58441000-58443600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:58441000-58443600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:58443600-58444000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:58443600-58444400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:58443600-58444400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:58450800-58453400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:58451000-58452000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:58452000-58452600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:58452600-58452800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:58452800-58454200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:58453400-58454200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:58454200-58454800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:58454200-58455600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:58454400-58454800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr6:58454800-58455400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:58455400-58455600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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