Variant report

Variant	nsv888007
Chromosome Location	chr7:48467581-48533508
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	BATF	chr7:48483391-48483642	GM12878	blood:	n/a	n/a
2	BHLHE40	chr7:48495321-48495335	K562	blood:	n/a	n/a
3	CCNT2	chr7:48494647-48495097	K562	blood:	n/a	n/a
4	CCNT2	chr7:48470894-48471088	K562	blood:	n/a	n/a
5	CEBPB	chr7:48510492-48510812	K562	blood:	n/a	chr7:48510656-48510667 chr7:48510656-48510665 chr7:48510654-48510665
6	CEBPB	chr7:48498776-48499010	A549	lung:	n/a	chr7:48498891-48498904
7	CEBPB	chr7:48498813-48499028	HepG2	liver:	n/a	chr7:48498891-48498904
8	CEBPB	chr7:48510500-48510740	A549	lung:	n/a	chr7:48510656-48510667 chr7:48510656-48510665 chr7:48510654-48510665
9	CEBPB	chr7:48473100-48473293	K562	blood:	n/a	chr7:48473193-48473204
10	CEBPB	chr7:48498727-48499141	MCF-7	breast:	n/a	chr7:48498891-48498904
11	CEBPB	chr7:48473077-48473360	A549	lung:	n/a	chr7:48473193-48473204
12	CEBPB	chr7:48473078-48473360	HepG2	liver:	n/a	chr7:48473193-48473204
13	CEBPB	chr7:48498754-48499043	Hela-S3	cervix:	n/a	chr7:48498891-48498904
14	CEBPB	chr7:48500568-48500665	A549	lung:	n/a	chr7:48500623-48500634
15	CEBPB	chr7:48510603-48510792	H1-hESC	embryonic stem cell:	n/a	chr7:48510656-48510667 chr7:48510656-48510665 chr7:48510654-48510665
16	CEBPB	chr7:48501342-48501446	HepG2	liver:	n/a	n/a
17	CEBPB	chr7:48473031-48473381	IMR90	lung:	n/a	chr7:48473193-48473204
18	CEBPB	chr7:48510520-48510805	HepG2	liver:	n/a	chr7:48510656-48510667 chr7:48510656-48510665 chr7:48510654-48510665
19	CEBPB	chr7:48498646-48499135	MCF-7	breast:	n/a	chr7:48498891-48498904
20	CEBPB	chr7:48473131-48473331	Hela-S3	cervix:	n/a	chr7:48473193-48473204
21	CEBPB	chr7:48500485-48500804	HepG2	liver:	n/a	chr7:48500623-48500634
22	CEBPB	chr7:48531253-48531488	HepG2	liver:	n/a	chr7:48531357-48531368 chr7:48531357-48531370
23	CHD2	chr7:48501565-48501582	HepG2	liver:	n/a	n/a
24	CTCF	chr7:48483542-48483569	Medullo	brain:	n/a	n/a
25	CTCF	chr7:48494585-48494617	K562	blood:	n/a	n/a
26	CTCF	chr7:48515329-48515352	GM10266	blood:	n/a	n/a
27	CTCF	chr7:48497400-48497550	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr7:48494440-48494751	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr7:48494547-48494715	LNCaP	prostate:	n/a	n/a
30	CTCF	chr7:48494520-48494670	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr7:48494568-48494653	MCF-7	breast:	n/a	n/a
32	CTCF	chr7:48492174-48492244	LNCaP	prostate:	n/a	n/a
33	CTCF	chr7:48530956-48531044	NHEK	skin:	n/a	chr7:48531008-48531029 chr7:48531006-48531024
34	CTCF	chr7:48483559-48483569	GM10266	blood:	n/a	n/a
35	CTCF	chr7:48483464-48483541	GM10266	blood:	n/a	n/a
36	CTCF	chr7:48494580-48494730	K562	blood:	n/a	n/a
37	CTCF	chr7:48494620-48494645	GM12878	blood:	n/a	n/a
38	CTCF	chr7:48494566-48494700	A549	lung:	n/a	n/a
39	CTCF	chr7:48530940-48531090	HMEC	breast:	n/a	chr7:48531008-48531029 chr7:48531006-48531024
40	CTCF	chr7:48530998-48531004	MCF-7	breast:	n/a	n/a
41	CTCF	chr7:48494300-48494450	HEEpiC	esophagus:	n/a	n/a
42	CTCF	chr7:48494579-48494630	Gliobla	brain:	n/a	n/a
43	CTCF	chr7:48503300-48503450	NHDF-neo	bronchial:	n/a	n/a
44	CTCF	chr7:48483556-48483597	GM13977	blood:	n/a	n/a
45	CTCF	chr7:48494533-48494730	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr7:48530967-48531047	HepG2	liver:	n/a	chr7:48531008-48531029 chr7:48531006-48531024
47	CTCF	chr7:48533200-48533350	HMEC	breast:	n/a	n/a
48	CTCF	chr7:48533160-48533310	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr7:48530996-48531014	MCF-7	breast:	n/a	n/a
50	CTCF	chr7:48494550-48494680	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:48491590-48491640	SK-N-SH_RA	brain:	n/a
2	chr7:48495157-48495207	AG04449	skin:	fetal
3	chr7:48491590-48491640	SK-N-SH_RA	brain:	n/a
4	chr7:48495157-48495207	AG04449	skin:	fetal
5	chr7:48494734-48494784	HRE	kidney:	n/a
6	chr7:48494519-48494569	NH-A	brain:	n/a
7	chr7:48494519-48494569	GM12892	blood:	n/a
8	chr7:48494519-48494569	HRCEpiC	kidney:	n/a
9	chr7:48494362-48494412	AG09309	skin:	n/a
10	chr7:48494156-48494206	ovcar-3	ovarian:	n/a
11	chr7:48494734-48494784	GM12892	blood:	n/a
12	chr7:48494608-48494658	HCF	heart:	n/a
13	chr7:48494362-48494412	SK-N-SH	brain:	n/a
14	chr7:48494362-48494412	K562	blood:	n/a
15	chr7:48495157-48495207	BJ	skin:	n/a
16	chr7:48493792-48493842	HRPEpiC	eye:	n/a
17	chr7:48493792-48493842	SAEC	small airway:	n/a
18	chr7:48494579-48494629	NHDF-neo	bronchial:	n/a
19	chr7:48494608-48494658	GM19239	blood:	n/a
20	chr7:48494579-48494629	HPAEpiC	pulmonary alveolar:	n/a
21	chr7:48494608-48494658	AG10803	skin:	n/a
22	chr7:48495072-48495122	ovcar-3	ovarian:	n/a
23	chr7:48494579-48494629	HIPEpiC	eye:	n/a
24	chr7:48495157-48495207	ECC-1	luminal epithelium:	n/a
25	chr7:48495157-48495207	SAEC	small airway:	n/a
26	chr7:48494734-48494784	AoSMC	blood vessel:	n/a
27	chr7:48493792-48493842	K562	blood:	n/a
28	chr7:48494579-48494629	SK-N-SH_RA	brain:	n/a
29	chr7:48495157-48495207	NT2-D1	testis:	n/a
30	chr7:48493792-48493842	NB4	blood:	n/a
31	chr7:48495072-48495122	HepG2	liver:	n/a
32	chr7:48494519-48494569	NB4	blood:	n/a
33	chr7:48491590-48491640	T-47D	breast:	n/a
34	chr7:48494362-48494412	IMR90	lung:	fetal
35	chr7:48494156-48494206	PrEC	prostate:	n/a
36	chr7:48494156-48494206	HAEpiC	amniotic membrane:	n/a
37	chr7:48495072-48495122	AG04449	skin:	fetal
38	chr7:48493792-48493842	AG04449	skin:	fetal
39	chr7:48495333-48495383	HAEpiC	amniotic membrane:	n/a
40	chr7:48494579-48494629	HCF	heart:	n/a
41	chr7:48494734-48494784	MCF10A-Er-Src	breast:	n/a
42	chr7:48495072-48495122	NH-A	brain:	n/a
43	chr7:48494734-48494784	HRCEpiC	kidney:	n/a
44	chr7:48494734-48494784	HCPEpiC	choroid plexus:	n/a
45	chr7:48494156-48494206	GM12891	blood:	n/a
46	chr7:48495333-48495383	HMEC	breast:	n/a
47	chr7:48491590-48491640	NB4	blood:	n/a
48	chr7:48495215-48495265	H1-hESC	embryonic stem cell:	embryo
49	chr7:48494579-48494629	GM12878	blood:	n/a
50	chr7:48495215-48495265	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:48513865..48515812-chr7:49402658..49405453,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUN3-5	chr7:48491789-48495224	NONHSAT120528

Variant related genes	Relation type
ABCA13	TF binding region
ABCA13	CpG island

Extended variants
information (count: 2387 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:2387 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13243091	chr7:48467581-48467582	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535505840	chr7:48467590-48467591	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs551237401	chr7:48467599-48467600	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs34541457	chr7:48467634-48467635	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192767578	chr7:48467639-48467640	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs34529024	chr7:48467654-48467655	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs397810019	chr7:48467663-48467664	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs545730579	chr7:48467664-48467665	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs558975791	chr7:48467678-48467679	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs34563223	chr7:48467684-48467685	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541242402	chr7:48467702-48467703	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs559835335	chr7:48467740-48467741	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs371050717	chr7:48467771-48467772	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs557976777	chr7:48467799-48467800	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs542222130	chr7:48467807-48467808	Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs562100355	chr7:48467816-48467817	Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs531208371	chr7:48467895-48467896	Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs551696497	chr7:48467915-48467916	Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs28369084	chr7:48468038-48468039	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527509569	chr7:48468046-48468047	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs533604421	chr7:48468058-48468059	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs555057317	chr7:48468126-48468127	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs567776369	chr7:48468146-48468147	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs536704811	chr7:48468154-48468155	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs141535791	chr7:48468158-48468159	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs147039030	chr7:48468185-48468186	Enhancers Strong transcription Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs184638579	chr7:48468206-48468207	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559229807	chr7:48468227-48468228	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138162530	chr7:48468247-48468248	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541625761	chr7:48468341-48468342	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554701059	chr7:48468354-48468355	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13244050	chr7:48468357-48468358	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187850660	chr7:48468360-48468361	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562237505	chr7:48468374-48468375	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543890788	chr7:48468386-48468387	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79241711	chr7:48468430-48468431	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544657885	chr7:48468467-48468468	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202043841	chr7:48468470-48468471	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565206548	chr7:48468578-48468579	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371359512	chr7:48468584-48468585	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76993235	chr7:48468695-48468696	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547623054	chr7:48468708-48468709	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567513017	chr7:48468824-48468825	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191899630	chr7:48468837-48468838	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550332207	chr7:48468844-48468845	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562783135	chr7:48468858-48468859	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78050577	chr7:48468886-48468887	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80110456	chr7:48468887-48468888	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143114868	chr7:48468913-48468914	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539042690	chr7:48468998-48468999	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48449400-48467800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:48464600-48469200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:48464600-48470000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:48466000-48468000	Enhancers	NH-A	brain
5	chr7:48466200-48468000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:48466600-48468000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:48466600-48469000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:48467000-48467600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:48467000-48468600	Enhancers	NHEK	skin
10	chr7:48467200-48467600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:48467400-48468200	Flanking Active TSS	HMEC	breast
12	chr7:48467600-48468600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:48467800-48468000	Strong transcription	Primary hematopoietic stem cells	blood
14	chr7:48468000-48500000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:48468200-48469200	Enhancers	HMEC	breast
16	chr7:48469200-48480200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:48470000-48470800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:48470800-48471600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr7:48471600-48479400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:48473200-48473800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr7:48479400-48483400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:48481400-48482600	Enhancers	Dnd41	blood
23	chr7:48482800-48483200	Enhancers	Fetal Muscle Trunk	muscle
24	chr7:48482800-48486400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:48483400-48484200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
26	chr7:48484000-48484200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:48484200-48488200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:48487000-48494200	Weak transcription	Spleen	Spleen
29	chr7:48488200-48491000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:48491000-48496400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:48494200-48494800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:48494200-48495200	ZNF genes & repeats	Spleen	Spleen
33	chr7:48494400-48494600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:48494400-48495000	Active TSS	Monocytes-CD14+_RO01746	blood
35	chr7:48494800-48495200	Active TSS	Duodenum Mucosa	Duodenum
36	chr7:48494800-48496800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:48495000-48498400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr7:48495200-48503200	Weak transcription	Spleen	Spleen
39	chr7:48496400-48498200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:48498200-48499200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr7:48498400-48498800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:48498400-48499400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr7:48498400-48499400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr7:48498800-48499600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:48498800-48500200	Enhancers	HMEC	breast
46	chr7:48499200-48499400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
47	chr7:48499400-48503200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:48499600-48500000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:48499800-48500200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:48500000-48500200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links