Variant report

Variant	esv1803975
Chromosome Location	chr3:195628636-195636469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr3:195633581-195634052	GM12878	blood:	n/a	n/a
2	ATF2	chr3:195633511-195634108	GM12878	blood:	n/a	n/a
3	ATF3	chr3:195634733-195634997	K562	blood:	n/a	chr3:195634895-195634904
4	BATF	chr3:195632798-195633033	GM12878	blood:	n/a	chr3:195632953-195632964
5	BCL11A	chr3:195633632-195633878	GM12878	blood:	n/a	n/a
6	BCL11A	chr3:195633597-195634080	GM12878	blood:	n/a	n/a
7	BCLAF1	chr3:195633477-195634300	GM12878	blood:	n/a	chr3:195634112-195634121
8	BCLAF1	chr3:195633645-195634183	GM12878	blood:	n/a	chr3:195634112-195634121
9	BHLHE40	chr3:195632762-195635654	GM12878	blood:	n/a	chr3:195634894-195634903 chr3:195634893-195634906 chr3:195634895-195634904 chr3:195634896-195634905 chr3:195634895-195634904 chr3:195634889-195634910
10	BHLHE40	chr3:195634354-195635528	K562	blood:	n/a	chr3:195634894-195634903 chr3:195634893-195634906 chr3:195634895-195634904 chr3:195634896-195634905 chr3:195634895-195634904 chr3:195634889-195634910
11	BHLHE40	chr3:195636256-195636822	GM12878	blood:	n/a	chr3:195636296-195636312 chr3:195636262-195636278
12	BHLHE40	chr3:195635888-195636019	K562	blood:	n/a	chr3:195635932-195635948
13	BHLHE40	chr3:195634693-195635060	HepG2	liver:	n/a	chr3:195634894-195634903 chr3:195634893-195634906 chr3:195634895-195634904 chr3:195634896-195634905 chr3:195634895-195634904 chr3:195634889-195634910
14	CBX3	chr3:195634721-195635457	K562	blood:	n/a	n/a
15	CCNT2	chr3:195634640-195636955	K562	blood:	n/a	chr3:195636046-195636055 chr3:195636663-195636672
16	CEBPB	chr3:195629577-195629821	K562	blood:	n/a	n/a
17	CEBPB	chr3:195632064-195632260	H1-hESC	embryonic stem cell:	n/a	chr3:195632126-195632137
18	CEBPB	chr3:195632073-195632139	Hela-S3	cervix:	n/a	chr3:195632126-195632137
19	CEBPB	chr3:195632016-195632285	K562	blood:	n/a	chr3:195632126-195632137
20	CEBPB	chr3:195632878-195633477	IMR90	lung:	n/a	n/a
21	CEBPB	chr3:195632971-195633088	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr3:195632086-195632262	HepG2	liver:	n/a	chr3:195632126-195632137
23	CEBPB	chr3:195633693-195634007	GM12878	blood:	n/a	n/a
24	CEBPB	chr3:195631891-195632258	K562	blood:	n/a	chr3:195632126-195632137
25	CEBPB	chr3:195632097-195632145	A549	lung:	n/a	chr3:195632126-195632137
26	CEBPB	chr3:195631912-195632167	ECC-1	luminal epithelium:	n/a	chr3:195632126-195632137
27	CEBPB	chr3:195629609-195629800	A549	lung:	n/a	n/a
28	CHD1	chr3:195630931-195630978	GM12878	blood:	n/a	n/a
29	CHD1	chr3:195636239-195636429	GM12878	blood:	n/a	n/a
30	CHD1	chr3:195632727-195632739	GM12878	blood:	n/a	n/a
31	CHD1	chr3:195635456-195635605	GM12878	blood:	n/a	n/a
32	CHD1	chr3:195633451-195633892	GM12878	blood:	n/a	n/a
33	CHD2	chr3:195633666-195634403	GM12878	blood:	n/a	n/a
34	CHD2	chr3:195635771-195636031	Hela-S3	cervix:	n/a	chr3:195635821-195635831
35	CHD2	chr3:195633014-195633161	GM12878	blood:	n/a	n/a
36	CTBP2	chr3:195635012-195635571	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr3:195635180-195635330	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr3:195636340-195636347	GM13976	blood:	n/a	n/a
39	CTCF	chr3:195636300-195636450	AG04449	skin:	n/a	chr3:195636399-195636412
40	CTCF	chr3:195636333-195636447	MCF-7	breast:	n/a	chr3:195636399-195636412
41	CTCF	chr3:195634820-195634970	GM12869	blood:	n/a	n/a
42	CTCF	chr3:195634360-195634510	GM12873	blood:	n/a	chr3:195634472-195634481 chr3:195634471-195634484
43	CTCF	chr3:195636234-195636517	K562	blood:	n/a	chr3:195636399-195636412
44	CTCF	chr3:195634360-195634510	NHEK	skin:	n/a	chr3:195634472-195634481 chr3:195634471-195634484
45	CTCF	chr3:195634455-195634539	GM12891	blood:	n/a	chr3:195634472-195634481 chr3:195634471-195634484
46	CTCF	chr3:195634911-195635016	GM19239	blood:	n/a	n/a
47	CTCF	chr3:195634360-195634510	GM12875	blood:	n/a	chr3:195634472-195634481 chr3:195634471-195634484
48	CTCF	chr3:195636282-195636971	GM12878	blood:	n/a	chr3:195636399-195636412
49	CTCF	chr3:195634340-195634490	HRE	kidney:	n/a	chr3:195634472-195634481 chr3:195634471-195634484
50	CTCF	chr3:195634420-195634570	GM12871	blood:	n/a	chr3:195634472-195634481 chr3:195634471-195634484

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:195636414-195636464	HCF	heart:	n/a
2	chr3:195635643-195635693	NH-A	brain:	n/a
3	chr3:195634965-195635015	Hela-S3	cervix:	n/a
4	chr3:195634844-195634894	SK-N-SH_RA	brain:	n/a
5	chr3:195635643-195635693	PANC-1	pancreas:	n/a
6	chr3:195636243-195636293	HCPEpiC	choroid plexus:	n/a
7	chr3:195635643-195635693	MCF-7	breast:	n/a
8	chr3:195634965-195635015	HNPCEpiC	eye:	n/a
9	chr3:195636243-195636293	HRE	kidney:	n/a
10	chr3:195634844-195634894	SK-N-MC	brain:	n/a
11	chr3:195636414-195636464	PANC-1	pancreas:	n/a
12	chr3:195635643-195635693	Hepatocyte	liver:	n/a
13	chr3:195636414-195636464	Jurkat	blood:	n/a
14	chr3:195634965-195635015	PrEC	prostate:	n/a
15	chr3:195632915-195632965	HCT-116	colon:	n/a
16	chr3:195635643-195635693	AG09309	skin:	n/a
17	chr3:195634844-195634894	AG09309	skin:	n/a
18	chr3:195636243-195636293	H1-hESC	embryonic stem cell:	embryo
19	chr3:195636243-195636293	HepG2	liver:	n/a
20	chr3:195635643-195635693	BE2_C	brain:	n/a
21	chr3:195635643-195635693	HIPEpiC	eye:	n/a
22	chr3:195634844-195634894	SK-N-SH	brain:	n/a
23	chr3:195632915-195632965	Hepatocyte	liver:	n/a
24	chr3:195632915-195632965	Jurkat	blood:	n/a
25	chr3:195632915-195632965	SKMC	muscle:	n/a
26	chr3:195636243-195636293	AoSMC	blood vessel:	n/a
27	chr3:195636414-195636464	Hepatocyte	liver:	n/a
28	chr3:195636414-195636464	HRE	kidney:	n/a
29	chr3:195634844-195634894	GM12892	blood:	n/a
30	chr3:195634965-195635015	SK-N-SH	brain:	n/a
31	chr3:195635437-195635487	HRCEpiC	kidney:	n/a
32	chr3:195634844-195634894	Hepatocyte	liver:	n/a
33	chr3:195635643-195635693	HEK293	kidney:	embryo
34	chr3:195635643-195635693	HRCEpiC	kidney:	n/a
35	chr3:195635437-195635487	RPTEC	kidney:	n/a
36	chr3:195634844-195634894	HPAEpiC	pulmonary alveolar:	n/a
37	chr3:195636243-195636293	HMEC	breast:	n/a
38	chr3:195634965-195635015	HCPEpiC	choroid plexus:	n/a
39	chr3:195632915-195632965	HMEC	breast:	n/a
40	chr3:195635437-195635487	Hela-S3	cervix:	n/a
41	chr3:195636414-195636464	Caco-2	colon:	n/a
42	chr3:195636414-195636464	HIPEpiC	eye:	n/a
43	chr3:195634844-195634894	NT2-D1	testis:	n/a
44	chr3:195636243-195636293	HEEpiC	esophagus:	n/a
45	chr3:195634844-195634894	HCM	heart:	n/a
46	chr3:195634965-195635015	GM06990	blood:	n/a
47	chr3:195634965-195635015	HRCEpiC	kidney:	n/a
48	chr3:195635437-195635487	MCF10A-Er-Src	breast:	n/a
49	chr3:195636243-195636293	PANC-1	pancreas:	n/a
50	chr3:195634965-195635015	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:195621708..195622621-chr3:195634071..195634635,2	MCF-7	breast:
2	chr3:195634985..195639388-chr3:195640414..195643668,6	K562	blood:
3	chr3:195409239..195411118-chr3:195634886..195637681,2	K562	blood:
4	chr3:195601233..195610120-chr3:195632410..195638442,11	MCF-7	breast:
5	chr3:195635569..195638518-chr3:195807424..195810696,3	MCF-7	breast:
6	chr17:57922900..57925382-chr3:195635106..195637733,2	MCF-7	breast:
7	chr3:195623300..195626521-chr3:195635118..195637851,4	K562	blood:
8	chr3:195630282..195631783-chr3:195634942..195636595,2	K562	blood:
9	chr3:195586941..195589694-chr3:195636137..195637695,2	K562	blood:
10	chr3:195586183..195589245-chr3:195634778..195636892,3	MCF-7	breast:
11	chr3:195625376..195627078-chr3:195627355..195629089,2	MCF-7	breast:
12	chr3:195620885..195622532-chr3:195635337..195638039,2	K562	blood:
13	chr3:195624153..195625110-chr3:195636048..195637005,2	MCF-7	breast:
14	chr3:195622328..195624422-chr3:195631924..195634850,4	K562	blood:
15	chr3:195626205..195629975-chr3:195631463..195634034,4	K562	blood:
16	chr3:195636011..195638279-chr3:195638767..195643547,4	K562	blood:
17	chr3:195602309..195605964-chr3:195633937..195639111,7	MCF-7	breast:
18	chr3:195593794..195596645-chr3:195636219..195637951,2	MCF-7	breast:
19	chr3:195626205..195629975-chr3:195631463..195634034,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC20-3	chr3:195634947-195635649	ENSG00000224614

Variant related genes	Relation type
TNK2	TF binding region
TNK2-AS1	TF binding region
ENSG00000226155	TF binding region
TNK2	CpG island
TNK2-AS1	CpG island
ENSG00000226155	CpG island
ENSG00000226155	chromatin interactions
ENSG00000224614	chromatin interactions
ENSG00000072274	chromatin interactions
ENSG00000273009	chromatin interactions
ENSG00000223783	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000242086	chromatin interactions
ENSG00000061938	chromatin interactions

Extended variants
information (count: 301 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11720557	chr3:195628636-195628637	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113738773	chr3:195628702-195628703	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111938993	chr3:195628724-195628725	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35259333	chr3:195628735-195628736	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541078763	chr3:195628757-195628758	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150187481	chr3:195628775-195628776	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533162841	chr3:195628776-195628777	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11185498	chr3:195628815-195628816	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs549612059	chr3:195628822-195628823	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549437332	chr3:195628828-195628829	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563747822	chr3:195628838-195628839	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35213237	chr3:195628850-195628851	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368712134	chr3:195628914-195628915	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549967611	chr3:195628922-195628923	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147508229	chr3:195628989-195628990	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568373285	chr3:195628990-195628991	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138841002	chr3:195629034-195629035	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547371704	chr3:195629037-195629038	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs571115579	chr3:195629045-195629046	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs565711468	chr3:195629062-195629063	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs73891171	chr3:195629083-195629084	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs9866046	chr3:195629084-195629085	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186783613	chr3:195629120-195629121	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs537265409	chr3:195629143-195629144	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs554258322	chr3:195629210-195629211	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs555502139	chr3:195629214-195629215	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs146324750	chr3:195629240-195629241	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs541759370	chr3:195629249-195629250	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs553373464	chr3:195629264-195629265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs577990928	chr3:195629286-195629287	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs192267941	chr3:195629305-195629306	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs563787412	chr3:195629350-195629351	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs530985308	chr3:195629356-195629357	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs543643734	chr3:195629375-195629376	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs183439612	chr3:195629383-195629384	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs561910271	chr3:195629389-195629390	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs529069500	chr3:195629397-195629398	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs187788403	chr3:195629426-195629427	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs559364607	chr3:195629437-195629438	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs532965718	chr3:195629440-195629441	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs80317236	chr3:195629488-195629489	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs74994370	chr3:195629489-195629490	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs550930814	chr3:195629492-195629493	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs58321048	chr3:195629500-195629501	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs371118941	chr3:195629501-195629502	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs377591207	chr3:195629511-195629512	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs149059305	chr3:195629515-195629516	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs199583041	chr3:195629517-195629518	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs555290670	chr3:195629518-195629519	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs543284298	chr3:195629519-195629520	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:680 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195623200-195633000	Weak transcription	Small Intestine	intestine
2	chr3:195623400-195632400	Enhancers	Primary B cells from peripheral blood	blood
3	chr3:195623600-195629400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr3:195623600-195631000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr3:195623800-195630400	Enhancers	Primary B cells from cord blood	blood
6	chr3:195623800-195630800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:195623800-195631000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:195623800-195633000	Weak transcription	Fetal Brain Female	brain
9	chr3:195623800-195633200	Enhancers	Primary hematopoietic stem cells	blood
10	chr3:195624000-195634400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:195624200-195630800	Weak transcription	Liver	Liver
12	chr3:195624200-195633000	Weak transcription	Gastric	stomach
13	chr3:195624400-195633200	Weak transcription	Pancreas	Pancrea
14	chr3:195624400-195634000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:195624600-195633200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:195624600-195634200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:195625000-195633200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:195625200-195632400	Weak transcription	Hela-S3	cervix
19	chr3:195625200-195633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:195625200-195633000	Weak transcription	Fetal Stomach	stomach
21	chr3:195625200-195634400	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:195625400-195630600	Weak transcription	K562	blood
23	chr3:195625400-195632800	Weak transcription	A549	lung
24	chr3:195625400-195633200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:195625400-195634200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:195625400-195634200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:195625400-195634600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr3:195625600-195632000	Weak transcription	NHEK	skin
29	chr3:195625600-195632600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr3:195625600-195633800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr3:195625600-195634200	Weak transcription	Left Ventricle	heart
32	chr3:195626200-195628800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr3:195626400-195630600	Enhancers	Fetal Muscle Trunk	muscle
34	chr3:195626400-195631200	Enhancers	Placenta	Placenta
35	chr3:195626600-195628800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr3:195626600-195629000	Enhancers	Primary T cells from cord blood	blood
37	chr3:195626600-195629000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:195626600-195629000	Enhancers	Brain Angular Gyrus	brain
39	chr3:195626600-195629000	Enhancers	Fetal Heart	heart
40	chr3:195626600-195629200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:195626600-195629200	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr3:195626600-195629200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:195626600-195629200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:195626600-195629200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr3:195626600-195629800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:195626600-195631400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr3:195626600-195632800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:195626800-195628800	Enhancers	Lung	lung
49	chr3:195626800-195629200	Enhancers	Spleen	Spleen
50	chr3:195626800-195629200	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links