Variant report

Variant	esv32999
Chromosome Location	chr3:46796060-46850073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:110)
CpG islands
(count:305)
Chromatin interactive
region (count:16)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:110 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr3:46834909-46835249	GM12878	blood:	n/a	n/a
2	BATF	chr3:46834950-46835224	GM12878	blood:	n/a	n/a
3	BCL11A	chr3:46834834-46835220	GM12878	blood:	n/a	n/a
4	BHLHE40	chr3:46798309-46798511	K562	blood:	n/a	n/a
5	CBX3	chr3:46798157-46798548	K562	blood:	n/a	n/a
6	CBX3	chr3:46805384-46805615	K562	blood:	n/a	n/a
7	CEBPB	chr3:46839064-46839245	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr3:46798433-46798503	HepG2	liver:	n/a	n/a
9	CHD2	chr3:46798208-46798651	K562	blood:	n/a	n/a
10	CTCF	chr3:46798400-46798550	HVMF	connective:	n/a	n/a
11	CTCF	chr3:46798336-46798412	H1-hESC	embryonic stem cell:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
12	CTCF	chr3:46798300-46798450	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
13	CTCF	chr3:46846140-46846290	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr3:46798300-46798450	HepG2	liver:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
15	CTCF	chr3:46798156-46798539	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
16	CTCF	chr3:46798359-46798450	LNCaP	prostate:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
17	CTCF	chr3:46798136-46798509	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
18	CTCF	chr3:46798034-46798529	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
19	CTCF	chr3:46846120-46846270	MCF-7	breast:	n/a	n/a
20	CTCF	chr3:46846100-46846250	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr3:46801730-46801825	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr3:46819600-46819750	GM12873	blood:	n/a	n/a
23	CTCF	chr3:46846160-46846310	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr3:46797989-46798564	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
25	CTCF	chr3:46846080-46846230	NHEK	skin:	n/a	n/a
26	CTCF	chr3:46798354-46798408	Gliobla	brain:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
27	CTCF	chr3:46798134-46798571	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
28	CTCF	chr3:46798280-46798430	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
29	CTCF	chr3:46798280-46798435	HepG2	liver:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
30	CTCFL	chr3:46798258-46798497	K562	blood:	n/a	n/a
31	CTCFL	chr3:46798305-46798476	K562	blood:	n/a	n/a
32	E2F4	chr3:46799519-46799724	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F6	chr3:46798300-46798501	K562	blood:	n/a	n/a
34	E2F6	chr3:46798276-46798526	K562	blood:	n/a	n/a
35	EBF1	chr3:46821837-46822068	GM12878	blood:	n/a	chr3:46821936-46821947 chr3:46821916-46821927
36	FAM48A	chr3:46839688-46839827	GM12878	blood:	n/a	n/a
37	FOS	chr3:46839048-46839240	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr3:46838831-46839342	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr3:46838841-46839336	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr3:46838787-46838951	MCF10A-Er-Src	breast:	n/a	n/a
41	FOXA2	chr3:46830000-46830297	A549	lung:	n/a	n/a
42	FOXA2	chr3:46829923-46830493	A549	lung:	n/a	n/a
43	HCFC1	chr3:46798366-46798472	K562	blood:	n/a	n/a
44	HMGN3	chr3:46798027-46798511	K562	blood:	n/a	n/a
45	IRF4	chr3:46834873-46835151	GM12878	blood:	n/a	n/a
46	JUN	chr3:46812290-46812404	K562	blood:	n/a	n/a
47	JUND	chr3:46798244-46798467	K562	blood:	n/a	chr3:46798277-46798286
48	KAP1	chr3:46801113-46801544	HEK293	kidney:	n/a	n/a
49	KAP1	chr3:46807486-46808044	K562	blood:	n/a	n/a
50	KAP1	chr3:46809565-46809862	U2OS	brain:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46796026-46796076	Caco-2	colon:	n/a
2	chr3:46797928-46797978	AG04450	lung:	fetal
3	chr3:46796026-46796076	HRPEpiC	eye:	n/a
4	chr3:46799010-46799060	HRPEpiC	eye:	n/a
5	chr3:46798240-46798290	Caco-2	colon:	n/a
6	chr3:46799010-46799060	H1-hESC	embryonic stem cell:	embryo
7	chr3:46799010-46799060	HepG2	liver:	n/a
8	chr3:46798240-46798290	NHBE	bronchial:	n/a
9	chr3:46797928-46797978	HUVEC	blood vessel:	n/a
10	chr3:46798240-46798290	GM12891	blood:	n/a
11	chr3:46796026-46796076	K562	blood:	n/a
12	chr3:46797928-46797978	H1-hESC	embryonic stem cell:	embryo
13	chr3:46798240-46798290	GM19239	blood:	n/a
14	chr3:46796026-46796076	MCF-7	breast:	n/a
15	chr3:46797928-46797978	HepG2	liver:	n/a
16	chr3:46798240-46798290	A549	lung:	n/a
17	chr3:46801208-46801258	HEK293	kidney:	embryo
18	chr3:46798240-46798290	Jurkat	blood:	n/a
19	chr3:46798240-46798290	NH-A	brain:	n/a
20	chr3:46799010-46799060	Hepatocyte	liver:	n/a
21	chr3:46798240-46798290	H1-hESC	embryonic stem cell:	embryo
22	chr3:46796026-46796076	BE2_C	brain:	n/a
23	chr3:46799010-46799060	Jurkat	blood:	n/a
24	chr3:46797928-46797978	ProgFib	skin:	n/a
25	chr3:46796026-46796076	A549	lung:	n/a
26	chr3:46799010-46799060	Caco-2	colon:	n/a
27	chr3:46799010-46799060	U87	brain:	n/a
28	chr3:46797928-46797978	HIPEpiC	eye:	n/a
29	chr3:46801208-46801258	Hela-S3	cervix:	n/a
30	chr3:46797928-46797978	HRCEpiC	kidney:	n/a
31	chr3:46799010-46799060	GM12892	blood:	n/a
32	chr3:46801208-46801258	RPTEC	kidney:	n/a
33	chr3:46796026-46796076	BJ	skin:	n/a
34	chr3:46796026-46796076	H1-hESC	embryonic stem cell:	embryo
35	chr3:46799010-46799060	HCF	heart:	n/a
36	chr3:46798240-46798290	ProgFib	skin:	n/a
37	chr3:46797928-46797978	SK-N-MC	brain:	n/a
38	chr3:46798240-46798290	HL-60	blood:	n/a
39	chr3:46797928-46797978	GM06990	blood:	n/a
40	chr3:46796026-46796076	NB4	blood:	n/a
41	chr3:46796026-46796076	NHDF-neo	bronchial:	n/a
42	chr3:46798240-46798290	LNCaP	prostate:	n/a
43	chr3:46798240-46798290	ECC-1	luminal epithelium:	n/a
44	chr3:46799010-46799060	AG10803	skin:	n/a
45	chr3:46799010-46799060	HCT-116	colon:	n/a
46	chr3:46798240-46798290	HEK293	kidney:	embryo
47	chr3:46798240-46798290	HRCEpiC	kidney:	n/a
48	chr3:46799010-46799060	HL-60	blood:	n/a
49	chr3:46798240-46798290	Hela-S3	cervix:	n/a
50	chr3:46797928-46797978	HMEC	breast:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46788120..46791042-chr3:46798895..46800766,2	K562	blood:
2	chr3:46789981..46792010-chr3:46794604..46797550,3	K562	blood:
3	chr3:46803507..46806312-chr3:46807817..46810409,2	K562	blood:
4	chr3:46796204..46798578-chr3:46800470..46803401,3	K562	blood:
5	chr3:46796598..46799185-chr3:46799676..46801957,2	MCF-7	breast:
6	chr3:46796974..46798578-chr3:46800470..46803376,2	K562	blood:
7	chr3:46798748..46799515-chr3:46907913..46908649,2	K562	blood:
8	chr3:46796204..46798578-chr3:46800470..46803401,3	K562	blood:
9	chr3:46796974..46798578-chr3:46800470..46803376,2	K562	blood:
10	chr3:46847486..46849953-chr3:46878692..46880394,2	K562	blood:
11	chr3:46796598..46799185-chr3:46799676..46801957,2	MCF-7	breast:
12	chr3:46819637..46822469-chr3:46912934..46914923,2	K562	blood:
13	chr3:46803507..46806312-chr3:46807817..46810409,2	K562	blood:
14	chr3:46746227..46747136-chr3:46797879..46798830,2	K562	blood:
15	chr3:46789741..46793223-chr3:46794604..46798425,5	K562	blood:
16	chr3:46774758..46775741-chr3:46797694..46798443,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRSS50-1	chr3:46795974-46796138	NONHSAT089457
2	lnc-PTH1R-2	chr3:46839613-46839880	NONHSAT089458
3	lnc-PRSS50-1	chr3:46797532-46798119	NONHSAT089457

No data

Variant related genes	Relation type
ENSG00000238013	TF binding region
ENSG00000238013	CpG island

Extended variants
information (count: 583 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148815064	chr3:46796062-46796063	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs533057227	chr3:46796071-46796072	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs551649769	chr3:46796099-46796100	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs144000025	chr3:46796183-46796184	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569625960	chr3:46796194-46796195	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183361655	chr3:46796196-46796197	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146510712	chr3:46796237-46796238	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111294598	chr3:46796350-46796351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567314268	chr3:46796490-46796491	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188006593	chr3:46796498-46796499	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556527734	chr3:46796519-46796520	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571613393	chr3:46796577-46796578	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201644237	chr3:46796610-46796611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6797122	chr3:46796636-46796637	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557961589	chr3:46796656-46796657	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573108764	chr3:46796716-46796717	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540523496	chr3:46796722-46796723	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555744651	chr3:46796744-46796745	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573883131	chr3:46796763-46796764	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6773559	chr3:46796789-46796790	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566859753	chr3:46796790-46796791	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368852596	chr3:46796975-46796976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75003087	chr3:46796979-46796980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538994401	chr3:46796980-46796981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192101786	chr3:46797011-46797012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574001756	chr3:46797018-46797019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560299801	chr3:46797039-46797040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6786453	chr3:46797086-46797087	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549167044	chr3:46797115-46797116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567578197	chr3:46797127-46797128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552967679	chr3:46797146-46797147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112759284	chr3:46797175-46797176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367747243	chr3:46797230-46797231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532045260	chr3:46797268-46797269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35490438	chr3:46797301-46797302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141149158	chr3:46797335-46797336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571642452	chr3:46797352-46797353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538742002	chr3:46797364-46797365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182916770	chr3:46797507-46797508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566668451	chr3:46797573-46797574	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs533928668	chr3:46797579-46797580	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs555610487	chr3:46797619-46797620	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs188472889	chr3:46797627-46797628	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs544517485	chr3:46797717-46797718	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs555867546	chr3:46797765-46797766	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs7637019	chr3:46797840-46797841	Enhancers Genic enhancers Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs376906319	chr3:46797869-46797870	Enhancers Genic enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs114572088	chr3:46797933-46797934	Enhancers Genic enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs369137119	chr3:46798020-46798021	Enhancers Genic enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs372561736	chr3:46798024-46798025	Enhancers Genic enhancers Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46779400-46799600	Weak transcription	Pancreas	Pancrea
2	chr3:46785200-46799800	Weak transcription	Fetal Intestine Small	intestine
3	chr3:46792400-46797800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:46793400-46800000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:46795200-46796200	Weak transcription	Fetal Thymus	thymus
6	chr3:46795600-46798000	Strong transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:46796000-46796800	Enhancers	Thymus	Thymus
8	chr3:46796400-46796600	Enhancers	Fetal Thymus	thymus
9	chr3:46797600-46797800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr3:46797600-46797800	Bivalent Enhancer	K562	blood
11	chr3:46797600-46798400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:46797800-46798400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:46798000-46798600	Enhancers	Placenta	Placenta
14	chr3:46798000-46798600	Active TSS	K562	blood
15	chr3:46798000-46801400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:46798400-46801200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:46800600-46801400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:46801000-46801200	Enhancers	Fetal Stomach	stomach
19	chr3:46801000-46801400	Enhancers	Fetal Kidney	kidney
20	chr3:46801000-46801800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:46801000-46801800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:46801000-46802000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:46801000-46802000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:46801000-46802000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:46801200-46801400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:46801200-46801400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:46801200-46801600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr3:46801200-46801600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:46801200-46801600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:46801200-46801600	Enhancers	Fetal Lung	lung
31	chr3:46801200-46801600	Enhancers	Psoas Muscle	Psoas
32	chr3:46801200-46802000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:46801400-46802000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr3:46801600-46803400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:46802000-46804400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr3:46804600-46805200	Enhancers	HMEC	breast
37	chr3:46804600-46805400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:46804800-46805000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:46804800-46805200	Enhancers	NHEK	skin
40	chr3:46805000-46809200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:46806000-46806200	Weak transcription	Pancreas	Pancrea
42	chr3:46806200-46806400	ZNF genes & repeats	Pancreas	Pancrea
43	chr3:46809600-46810000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:46819200-46820200	Enhancers	Primary B cells from cord blood	blood
45	chr3:46819600-46820000	Enhancers	Primary B cells from peripheral blood	blood
46	chr3:46829800-46831000	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr3:46830400-46831000	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr3:46830800-46831200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr3:46844000-46844400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:46844000-46844400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links