Variant report

Variant	nsv603080
Chromosome Location	chr6:49319025-49376924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:141)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:141 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:49334288-49334528	K562	blood:	n/a	n/a
2	CCNT2	chr6:49325957-49326110	K562	blood:	n/a	n/a
3	CEBPB	chr6:49354743-49354859	HepG2	liver:	n/a	n/a
4	CEBPB	chr6:49352708-49352929	A549	lung:	n/a	chr6:49352803-49352814 chr6:49352805-49352816 chr6:49352803-49352816 chr6:49352805-49352814
5	CEBPB	chr6:49345712-49345838	HepG2	liver:	n/a	chr6:49345790-49345801 chr6:49345791-49345802 chr6:49345790-49345803
6	CEBPB	chr6:49352641-49352967	IMR90	lung:	n/a	chr6:49352803-49352814 chr6:49352805-49352816 chr6:49352803-49352816 chr6:49352805-49352814
7	CEBPB	chr6:49352731-49352906	K562	blood:	n/a	chr6:49352803-49352814 chr6:49352805-49352816 chr6:49352803-49352816 chr6:49352805-49352814
8	CEBPB	chr6:49352638-49352992	HepG2	liver:	n/a	chr6:49352803-49352814 chr6:49352805-49352816 chr6:49352803-49352816 chr6:49352805-49352814
9	CEBPD	chr6:49319281-49319872	K562	blood:	n/a	n/a
10	CEBPD	chr6:49319355-49319822	K562	blood:	n/a	n/a
11	CHD2	chr6:49374491-49374508	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr6:49338920-49339070	HCFaa	heart:	n/a	n/a
13	CTCF	chr6:49338880-49339030	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr6:49338880-49339030	HMF	breast:	n/a	n/a
15	CTCF	chr6:49374560-49374710	WERI-Rb-1	eye:	n/a	chr6:49374656-49374669 chr6:49374653-49374671
16	CTCF	chr6:49338960-49339110	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr6:49338960-49339110	HMEC	breast:	n/a	n/a
18	CTCF	chr6:49338880-49339030	RPTEC	kidney:	n/a	n/a
19	CTCF	chr6:49338980-49339130	BE2_C	brain:	n/a	n/a
20	CTCF	chr6:49374580-49374730	Hela-S3	cervix:	n/a	chr6:49374656-49374669 chr6:49374653-49374671
21	CTCF	chr6:49338920-49339070	HRE	kidney:	n/a	n/a
22	CTCF	chr6:49338900-49339050	HepG2	liver:	n/a	n/a
23	CTCF	chr6:49339020-49339170	HPF	lung:	n/a	n/a
24	CTCF	chr6:49338938-49339109	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr6:49338860-49339010	HCT-116	colon:	n/a	n/a
26	CTCF	chr6:49374480-49374630	HPF	lung:	n/a	n/a
27	CTCF	chr6:49338940-49339090	AG04449	skin:	n/a	n/a
28	CTCF	chr6:49338920-49339070	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr6:49338920-49339070	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr6:49350516-49350561	LNCaP	prostate:	n/a	n/a
31	CTCF	chr6:49338920-49339070	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr6:49374520-49374670	HCPEpiC	choroid plexus:	n/a	chr6:49374656-49374669
33	CTCF	chr6:49338993-49339060	K562	blood:	n/a	n/a
34	CTCF	chr6:49338963-49339076	MCF-7	breast:	n/a	n/a
35	CTCF	chr6:49338970-49339120	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr6:49357264-49357349	GM20000	blood:	n/a	n/a
37	CTCF	chr6:49374520-49374670	HCFaa	heart:	n/a	chr6:49374656-49374669
38	CTCF	chr6:49338920-49339070	SAEC	small airway:	n/a	n/a
39	CTCF	chr6:49338940-49339090	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr6:49339012-49339057	MCF-7	breast:	n/a	n/a
41	CTCF	chr6:49338974-49339072	MCF-7	breast:	n/a	n/a
42	CTCF	chr6:49339013-49339046	IMR90	lung:	n/a	n/a
43	CTCF	chr6:49374600-49374750	HPF	lung:	n/a	chr6:49374656-49374669 chr6:49374653-49374671
44	CTCF	chr6:49338997-49339062	LNCaP	prostate:	n/a	n/a
45	CTCF	chr6:49338956-49339056	NHEK	skin:	n/a	n/a
46	CTCF	chr6:49338880-49339030	BE2_C	brain:	n/a	n/a
47	CTCF	chr6:49338900-49339050	HMF	breast:	n/a	n/a
48	CTCF	chr6:49374520-49374670	GM12873	blood:	n/a	chr6:49374656-49374669
49	CTCF	chr6:49338880-49339030	AG04450	lung:	n/a	n/a
50	CTCF	chr6:49376900-49377050	AG10803	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:49354696-49354746	ProgFib	skin:	n/a
2	chr6:49354696-49354746	PANC-1	pancreas:	n/a
3	chr6:49354696-49354746	ECC-1	luminal epithelium:	n/a
4	chr6:49354696-49354746	MCF-7	breast:	n/a
5	chr6:49354696-49354746	SAEC	small airway:	n/a
6	chr6:49354696-49354746	PrEC	prostate:	n/a
7	chr6:49354696-49354746	HRPEpiC	eye:	n/a
8	chr6:49354696-49354746	HCM	heart:	n/a
9	chr6:49354696-49354746	HCF	heart:	n/a
10	chr6:49354696-49354746	CMK	blood:	n/a
11	chr6:49354696-49354746	HRCEpiC	kidney:	n/a
12	chr6:49354696-49354746	GM12892	blood:	n/a
13	chr6:49354696-49354746	HepG2	liver:	n/a
14	chr6:49354696-49354746	HRE	kidney:	n/a
15	chr6:49354696-49354746	NB4	blood:	n/a
16	chr6:49354696-49354746	HCPEpiC	choroid plexus:	n/a
17	chr6:49354696-49354746	NHDF-neo	bronchial:	n/a
18	chr6:49354696-49354746	NHBE	bronchial:	n/a
19	chr6:49354696-49354746	SK-N-SH_RA	brain:	n/a
20	chr6:49354696-49354746	Hela-S3	cervix:	n/a
21	chr6:49354696-49354746	SK-N-SH	brain:	n/a
22	chr6:49354696-49354746	HPAEpiC	pulmonary alveolar:	n/a
23	chr6:49354696-49354746	BJ	skin:	n/a
24	chr6:49354696-49354746	AG10803	skin:	n/a
25	chr6:49354696-49354746	HEK293	kidney:	embryo
26	chr6:49354696-49354746	HUVEC	blood vessel:	n/a
27	chr6:49354696-49354746	SKMC	muscle:	n/a
28	chr6:49354696-49354746	A549	lung:	n/a
29	chr6:49354696-49354746	HNPCEpiC	eye:	n/a
30	chr6:49354696-49354746	HMEC	breast:	n/a
31	chr6:49354696-49354746	HEEpiC	esophagus:	n/a
32	chr6:49354696-49354746	NH-A	brain:	n/a
33	chr6:49354696-49354746	HAEpiC	amniotic membrane:	n/a
34	chr6:49354696-49354746	RPTEC	kidney:	n/a
35	chr6:49354696-49354746	NT2-D1	testis:	n/a
36	chr6:49354696-49354746	AG04449	skin:	fetal
37	chr6:49354696-49354746	Caco-2	colon:	n/a
38	chr6:49354696-49354746	SK-N-MC	brain:	n/a
39	chr6:49354696-49354746	Jurkat	blood:	n/a
40	chr6:49354696-49354746	Hepatocyte	liver:	n/a
41	chr6:49354696-49354746	AoSMC	blood vessel:	n/a
42	chr6:49354696-49354746	IMR90	lung:	fetal
43	chr6:49354696-49354746	HCT-116	colon:	n/a
44	chr6:49354696-49354746	T-47D	breast:	n/a
45	chr6:49354696-49354746	GM12891	blood:	n/a
46	chr6:49354696-49354746	HL-60	blood:	n/a
47	chr6:49354696-49354746	BE2_C	brain:	n/a
48	chr6:49354696-49354746	AG09319	gingival:	n/a
49	chr6:49354696-49354746	U87	brain:	n/a
50	chr6:49354696-49354746	AG04450	lung:	fetal

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:49365420..49367035-chr6:49379782..49381440,2	K562	blood:
2	chr6:49363353..49364966-chr6:49367128..49369575,2	K562	blood:
3	chr6:49363353..49364966-chr6:49367128..49369575,2	K562	blood:
4	chr6:49375571..49377870-chr6:49396381..49398222,2	K562	blood:
5	chr6:49352086..49353625-chr6:49427377..49430292,2	K562	blood:
6	chr6:49368456..49372013-chr6:49372787..49376881,4	K562	blood:
7	chr6:49368456..49372013-chr6:49372787..49376881,4	K562	blood:

No data

Variant related genes	Relation type
EEF1A1P42	TF binding region
EEF1A1P42	CpG island

Extended variants
information (count: 618 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543805	chr6:49319025-49319026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs199983995	chr6:49319036-49319037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139880359	chr6:49319041-49319042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78097228	chr6:49319045-49319046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576789349	chr6:49319047-49319048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563707220	chr6:49319074-49319075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114794935	chr6:49319106-49319107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532886415	chr6:49319134-49319135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549338243	chr6:49319161-49319162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545467835	chr6:49319191-49319192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534761540	chr6:49319235-49319236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112616040	chr6:49319238-49319239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571285086	chr6:49319280-49319281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192014045	chr6:49319295-49319296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556893236	chr6:49319309-49319310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574938456	chr6:49319358-49319359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114212152	chr6:49319380-49319381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555602402	chr6:49319381-49319382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561150454	chr6:49319409-49319410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183493177	chr6:49319426-49319427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12197394	chr6:49319473-49319474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559713457	chr6:49319484-49319485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578036941	chr6:49319488-49319489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545200742	chr6:49319535-49319536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186841581	chr6:49319552-49319553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190146822	chr6:49319555-49319556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572849613	chr6:49319558-49319559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35760959	chr6:49319559-49319560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116543954	chr6:49319575-49319576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182175041	chr6:49319587-49319588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9369886	chr6:49319592-49319593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs112836980	chr6:49319593-49319594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528389222	chr6:49319624-49319625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186821880	chr6:49319625-49319626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571379590	chr6:49319632-49319633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563653275	chr6:49319679-49319680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117517206	chr6:49319695-49319696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550303263	chr6:49319726-49319727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568621978	chr6:49319772-49319773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144832594	chr6:49319776-49319777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554167790	chr6:49319790-49319791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567586363	chr6:49319796-49319797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546269288	chr6:49319805-49319806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550917391	chr6:49319807-49319808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193063674	chr6:49319815-49319816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185835880	chr6:49319825-49319826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578145125	chr6:49319853-49319854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545591746	chr6:49319864-49319865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532565484	chr6:49319891-49319892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559469646	chr6:49319940-49319941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	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
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49310800-49328000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:49354200-49355000	Active TSS	K562	blood
3	chr6:49354800-49355000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:49373600-49374600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:49373800-49374600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:49373800-49374600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:49374000-49374600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:49374200-49374600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:49374200-49374600	Enhancers	Stomach Smooth Muscle	stomach
10	chr6:49374200-49374800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:49374400-49374800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:49374600-49377800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:49374600-49377800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:49374600-49377800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:49374600-49378000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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