Variant report

Variant	esv3433975
Chromosome Location	chr3:49975679-49977391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:448)
CpG islands
(count:489)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:49977213-49977959	HepG2	liver:	n/a	n/a
2	ATF1	chr3:49977195-49977837	K562	blood:	n/a	n/a
3	ATF2	chr3:49977189-49978149	GM12878	blood:	n/a	n/a
4	ATF3	chr3:49977110-49977867	GM12878	blood:	n/a	n/a
5	ATF3	chr3:49977192-49977778	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr3:49977205-49977663	HepG2	liver:	n/a	n/a
7	ATF3	chr3:49977251-49977657	K562	blood:	n/a	n/a
8	BCLAF1	chr3:49977194-49977761	K562	blood:	n/a	n/a
9	BCLAF1	chr3:49977140-49978237	GM12878	blood:	n/a	n/a
10	BCLAF1	chr3:49977148-49978284	GM12878	blood:	n/a	n/a
11	BHLHE40	chr3:49977175-49977857	HepG2	liver:	n/a	n/a
12	BHLHE40	chr3:49977162-49978070	K562	blood:	n/a	n/a
13	BHLHE40	chr3:49977207-49978127	GM12878	blood:	n/a	n/a
14	BRCA1	chr3:49977278-49978146	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr3:49976962-49978180	K562	blood:	n/a	n/a
16	CBX3	chr3:49977117-49977499	K562	blood:	n/a	n/a
17	CCNT2	chr3:49977214-49978065	K562	blood:	n/a	n/a
18	CEBPB	chr3:49977284-49977951	Hela-S3	cervix:	n/a	n/a
19	CEBPD	chr3:49977356-49977931	HepG2	liver:	n/a	n/a
20	CHD1	chr3:49977176-49978616	GM12878	blood:	n/a	n/a
21	CHD2	chr3:49977208-49978065	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr3:49977217-49978139	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr3:49977319-49977742	K562	blood:	n/a	n/a
24	CHD2	chr3:49977184-49978066	GM12878	blood:	n/a	n/a
25	CHD2	chr3:49977299-49977948	HepG2	liver:	n/a	n/a
26	CREB1	chr3:49977057-49978152	HepG2	liver:	n/a	n/a
27	CREB1	chr3:49977092-49978135	HepG2	liver:	n/a	n/a
28	CREB1	chr3:49977044-49978128	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr3:49977253-49977629	A549	lung:	n/a	n/a
30	CREB1	chr3:49977193-49978101	A549	lung:	n/a	n/a
31	CREB1	chr3:49977144-49977979	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr3:49977092-49978129	K562	blood:	n/a	n/a
33	CREB1	chr3:49977067-49978201	GM12878	blood:	n/a	n/a
34	CREB1	chr3:49977087-49978043	K562	blood:	n/a	n/a
35	CREB1	chr3:49977170-49977811	ECC-1	luminal epithelium:	n/a	n/a
36	CTCF	chr3:49977360-49977361	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr3:49977220-49977370	AG04449	skin:	n/a	chr3:49977357-49977365
38	CUX1	chr3:49977293-49977640	K562	blood:	n/a	n/a
39	E2F4	chr3:49977221-49978064	K562	blood:	n/a	chr3:49977384-49977398 chr3:49977777-49977787
40	E2F4	chr3:49977300-49977895	GM12878	blood:	n/a	chr3:49977384-49977398 chr3:49977777-49977787
41	E2F4	chr3:49977262-49978040	MCF10A-Er-Src	breast:	n/a	chr3:49977384-49977398 chr3:49977777-49977787
42	E2F6	chr3:49977058-49978096	K562	blood:	n/a	chr3:49977384-49977398 chr3:49977777-49977787
43	E2F6	chr3:49977045-49977659	H1-hESC	embryonic stem cell:	n/a	chr3:49977384-49977398
44	E2F6	chr3:49977059-49977870	H1-hESC	embryonic stem cell:	n/a	chr3:49977384-49977398 chr3:49977777-49977787
45	E2F6	chr3:49977151-49978185	A549	lung:	n/a	chr3:49977384-49977398 chr3:49977777-49977787
46	E2F6	chr3:49977161-49977638	K562	blood:	n/a	chr3:49977384-49977398
47	EBF1	chr3:49977255-49977670	GM12878	blood:	n/a	n/a
48	ELF1	chr3:49977253-49978068	K562	blood:	n/a	n/a
49	ELF1	chr3:49977134-49978232	GM12878	blood:	n/a	n/a
50	ELF1	chr3:49977256-49977929	HepG2	liver:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:49977388-49977438	Hela-S3	cervix:	n/a
2	chr3:49977388-49977438	Hela-S3	cervix:	n/a
3	chr3:49977234-49977284	HCPEpiC	choroid plexus:	n/a
4	chr3:49977370-49977420	HUVEC	blood vessel:	n/a
5	chr3:49977390-49977440	HEEpiC	esophagus:	n/a
6	chr3:49977228-49977278	HUVEC	blood vessel:	n/a
7	chr3:49977118-49977168	K562	blood:	n/a
8	chr3:49977228-49977278	NH-A	brain:	n/a
9	chr3:49977370-49977420	GM06990	blood:	n/a
10	chr3:49977390-49977440	K562	blood:	n/a
11	chr3:49977380-49977430	NB4	blood:	n/a
12	chr3:49977234-49977284	GM12892	blood:	n/a
13	chr3:49977228-49977278	HL-60	blood:	n/a
14	chr3:49977390-49977440	PANC-1	pancreas:	n/a
15	chr3:49977118-49977168	AG10803	skin:	n/a
16	chr3:49977190-49977240	HL-60	blood:	n/a
17	chr3:49977390-49977440	GM19239	blood:	n/a
18	chr3:49977118-49977168	HRCEpiC	kidney:	n/a
19	chr3:49977388-49977438	ProgFib	skin:	n/a
20	chr3:49977380-49977430	CMK	blood:	n/a
21	chr3:49977190-49977240	K562	blood:	n/a
22	chr3:49977388-49977438	HCM	heart:	n/a
23	chr3:49977388-49977438	HIPEpiC	eye:	n/a
24	chr3:49977118-49977168	GM19239	blood:	n/a
25	chr3:49977388-49977438	ECC-1	luminal epithelium:	n/a
26	chr3:49977234-49977284	GM12891	blood:	n/a
27	chr3:49977234-49977284	AG04449	skin:	fetal
28	chr3:49977228-49977278	HIPEpiC	eye:	n/a
29	chr3:49977234-49977284	HCM	heart:	n/a
30	chr3:49977228-49977278	BE2_C	brain:	n/a
31	chr3:49977190-49977240	NHDF-neo	bronchial:	n/a
32	chr3:49977390-49977440	T-47D	breast:	n/a
33	chr3:49977234-49977284	AG10803	skin:	n/a
34	chr3:49977228-49977278	HAEpiC	amniotic membrane:	n/a
35	chr3:49977228-49977278	SK-N-SH_RA	brain:	n/a
36	chr3:49977190-49977240	HAEpiC	amniotic membrane:	n/a
37	chr3:49977388-49977438	HRCEpiC	kidney:	n/a
38	chr3:49977390-49977440	HRE	kidney:	n/a
39	chr3:49977234-49977284	HL-60	blood:	n/a
40	chr3:49977390-49977440	ProgFib	skin:	n/a
41	chr3:49977190-49977240	SK-N-SH_RA	brain:	n/a
42	chr3:49977228-49977278	IMR90	lung:	fetal
43	chr3:49977190-49977240	HepG2	liver:	n/a
44	chr3:49977390-49977440	HRPEpiC	eye:	n/a
45	chr3:49977228-49977278	GM12891	blood:	n/a
46	chr3:49977118-49977168	HNPCEpiC	eye:	n/a
47	chr3:49977388-49977438	HCPEpiC	choroid plexus:	n/a
48	chr3:49977388-49977438	Hepatocyte	liver:	n/a
49	chr3:49977388-49977438	SKMC	muscle:	n/a
50	chr3:49977118-49977168	AG04449	skin:	fetal

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49965568..49971141-chr3:49975411..49979217,7	MCF-7	breast:
2	chr1:145438159..145439066-chr3:49977309..49978070,2	Hela-S3	cervix:
3	chr3:49977271..49977999-chr3:183903220..183904111,2	Hela-S3	cervix:
4	chr3:49935827..49937610-chr3:49975872..49978554,2	K562	blood:
5	chr3:49977294..49978117-chr3:52007652..52008341,2	HCT-116	colon:
6	chr3:49965505..49970003-chr3:49974970..49980028,17	K562	blood:
7	chr19:16187375..16188133-chr3:49977216..49977859,2	Hela-S3	cervix:
8	chr3:49892284..49895111-chr3:49976165..49977880,2	K562	blood:
9	chr3:49977200..49977809-chr6:41040589..41041439,2	NB4	blood:
10	chr3:49966957..49970009-chr3:49975972..49978983,5	MCF-7	breast:
11	chr3:49823173..49825666-chr3:49976602..49979269,2	MCF-7	breast:
12	chr3:49966817..49967335-chr3:49977017..49977900,2	MCF-7	breast:
13	chr3:49965505..49970003-chr3:49975811..49980300,11	K562	blood:
14	chr3:49977095..49978042-chr7:86781332..86782269,3	Hela-S3	cervix:
15	chr13:111364730..111365670-chr3:49977226..49977814,2	Hela-S3	cervix:
16	chr3:49975788..49978611-chr3:50125447..50127862,2	MCF-7	breast:
17	chr3:49976300..49979550-chr3:50125389..50128777,3	K562	blood:

No data

Variant related genes	Relation type
RBM6	TF binding region
RBM6	CpG island
ENSG00000001167	chromatin interactions
ENSG00000135164	chromatin interactions
ENSG00000117289	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000114779	chromatin interactions
ENSG00000161204	chromatin interactions
ENSG00000230698	chromatin interactions
ENSG00000272762	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000183763	chromatin interactions
ENSG00000003756	chromatin interactions
ENSG00000224046	chromatin interactions
ENSG00000248487	chromatin interactions
ENSG00000167460	chromatin interactions
ENSG00000164077	chromatin interactions
ENSG00000176095	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374820953	chr3:49975679-49975680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564564846	chr3:49975696-49975697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs528679259	chr3:49975725-49975726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184966090	chr3:49975734-49975735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568104574	chr3:49975746-49975747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191689287	chr3:49975776-49975777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528870769	chr3:49975793-49975794	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188599159	chr3:49975799-49975800	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs191569742	chr3:49975808-49975809	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539390960	chr3:49975826-49975827	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528823792	chr3:49975829-49975830	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs369827520	chr3:49975856-49975857	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558031049	chr3:49975910-49975911	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs566552535	chr3:49975920-49975921	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs183868935	chr3:49975942-49975943	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs533948645	chr3:49975952-49975953	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs531346490	chr3:49975985-49975986	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs183862237	chr3:49976039-49976040	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs138709422	chr3:49976045-49976046	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs557426144	chr3:49976119-49976120	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs575698327	chr3:49976135-49976136	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs200537286	chr3:49976145-49976146	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs547769098	chr3:49976146-49976147	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs546566380	chr3:49976148-49976149	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs372379231	chr3:49976174-49976175	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs376407118	chr3:49976182-49976183	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs76008796	chr3:49976238-49976239	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs113865541	chr3:49976286-49976287	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs111271908	chr3:49976298-49976299	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs566194545	chr3:49976302-49976303	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs113815785	chr3:49976303-49976304	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs188184646	chr3:49976351-49976352	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs528992177	chr3:49976352-49976353	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs373701899	chr3:49976361-49976362	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs550255795	chr3:49976404-49976405	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs182125945	chr3:49976407-49976408	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs187210876	chr3:49976443-49976444	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs540834968	chr3:49976452-49976453	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs190141860	chr3:49976462-49976463	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs551396716	chr3:49976463-49976464	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs369461041	chr3:49976515-49976516	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs533686766	chr3:49976537-49976538	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs551670660	chr3:49976553-49976554	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs566727345	chr3:49976567-49976568	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs181839507	chr3:49976570-49976571	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs549188338	chr3:49976586-49976587	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs570275162	chr3:49976597-49976598	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs111739967	chr3:49976678-49976679	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs555928782	chr3:49976681-49976682	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs567779996	chr3:49976684-49976685	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
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	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49967600-49977400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:49967800-49977000	Weak transcription	Primary B cells from cord blood	blood
3	chr3:49967800-49977000	Weak transcription	NHLF	lung
4	chr3:49968000-49976600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:49968800-49976800	Weak transcription	HepG2	liver
6	chr3:49969200-49977000	Weak transcription	K562	blood
7	chr3:49973600-49976200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr3:49974600-49977000	Weak transcription	Fetal Intestine Large	intestine
9	chr3:49974800-49976800	Weak transcription	GM12878-XiMat	blood
10	chr3:49975000-49976800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:49975000-49977000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr3:49975000-49977400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:49975200-49977000	Weak transcription	Adipose Nuclei	Adipose
14	chr3:49975400-49977000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:49975400-49977000	Weak transcription	Fetal Intestine Small	intestine
16	chr3:49975600-49977000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:49975600-49977000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr3:49976200-49976600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr3:49976600-49976800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:49976600-49976800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:49976600-49976800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr3:49976600-49976800	Weak transcription	Hela-S3	cervix
23	chr3:49976600-49977000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:49976600-49977000	Enhancers	Brain Hippocampus Middle	brain
25	chr3:49976600-49977400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr3:49976800-49977000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:49976800-49977000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:49976800-49977000	Enhancers	Brain Angular Gyrus	brain
29	chr3:49976800-49977000	Enhancers	Brain Anterior Caudate	brain
30	chr3:49976800-49977000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr3:49976800-49977000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr3:49976800-49977000	Enhancers	Fetal Muscle Leg	muscle
33	chr3:49976800-49977000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr3:49976800-49977000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr3:49976800-49977000	Enhancers	Dnd41	blood
36	chr3:49976800-49977000	Enhancers	GM12878-XiMat	blood
37	chr3:49976800-49977000	Enhancers	Hela-S3	cervix
38	chr3:49976800-49977000	Active TSS	HepG2	liver
39	chr3:49976800-49977000	Enhancers	HSMM	muscle
40	chr3:49976800-49977400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:49976800-49977400	Enhancers	Fetal Thymus	thymus
42	chr3:49976800-49977400	Enhancers	Spleen	Spleen
43	chr3:49977000-49977200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:49977000-49977200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:49977000-49977200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:49977000-49977200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:49977000-49977200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr3:49977000-49977200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr3:49977000-49977200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr3:49977000-49977200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links