Variant report

Variant	nsv1032221
Chromosome Location	chr7:48302789-48546684
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	ATF1	chr7:48454339-48454412	K562	blood:	n/a	n/a
2	ATF1	chr7:48464645-48464750	K562	blood:	n/a	n/a
3	ATF2	chr7:48338249-48338768	GM12878	blood:	n/a	n/a
4	ATF2	chr7:48338313-48338712	GM12878	blood:	n/a	n/a
5	BATF	chr7:48338311-48338717	GM12878	blood:	n/a	n/a
6	BATF	chr7:48483391-48483642	GM12878	blood:	n/a	n/a
7	BCL11A	chr7:48338302-48338688	GM12878	blood:	n/a	n/a
8	BCL3	chr7:48400134-48400508	GM12878	blood:	n/a	n/a
9	BCL3	chr7:48537205-48537464	GM12878	blood:	n/a	n/a
10	BCL3	chr7:48338337-48338739	GM12878	blood:	n/a	n/a
11	BCL3	chr7:48400193-48400497	GM12878	blood:	n/a	n/a
12	BHLHE40	chr7:48495321-48495335	K562	blood:	n/a	n/a
13	BHLHE40	chr7:48430530-48430791	GM12878	blood:	n/a	n/a
14	BRCA1	chr7:48354292-48354447	GM12878	blood:	n/a	n/a
15	CCNT2	chr7:48470894-48471088	K562	blood:	n/a	n/a
16	CCNT2	chr7:48494647-48495097	K562	blood:	n/a	n/a
17	CEBPB	chr7:48319620-48320074	IMR90	lung:	n/a	n/a
18	CEBPB	chr7:48350426-48350947	MCF-7	breast:	n/a	chr7:48350667-48350680 chr7:48350667-48350678
19	CEBPB	chr7:48318199-48318505	HepG2	liver:	n/a	n/a
20	CEBPB	chr7:48456467-48456702	HepG2	liver:	n/a	chr7:48456564-48456577 chr7:48456564-48456575
21	CEBPB	chr7:48340830-48341054	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr7:48473078-48473360	HepG2	liver:	n/a	chr7:48473193-48473204
23	CEBPB	chr7:48498813-48499028	HepG2	liver:	n/a	chr7:48498891-48498904
24	CEBPB	chr7:48545497-48545781	IMR90	lung:	n/a	chr7:48545643-48545654
25	CEBPB	chr7:48500485-48500804	HepG2	liver:	n/a	chr7:48500623-48500634
26	CEBPB	chr7:48498646-48499135	MCF-7	breast:	n/a	chr7:48498891-48498904
27	CEBPB	chr7:48350481-48350752	MCF-7	breast:	n/a	chr7:48350667-48350680 chr7:48350667-48350678
28	CEBPB	chr7:48429446-48429963	MCF-7	breast:	n/a	n/a
29	CEBPB	chr7:48545578-48545826	A549	lung:	n/a	chr7:48545643-48545654
30	CEBPB	chr7:48542623-48542856	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr7:48392408-48392683	HepG2	liver:	n/a	chr7:48392560-48392569 chr7:48392558-48392569
32	CEBPB	chr7:48318281-48318407	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr7:48456901-48457130	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr7:48510603-48510792	H1-hESC	embryonic stem cell:	n/a	chr7:48510656-48510667 chr7:48510656-48510665 chr7:48510654-48510665
35	CEBPB	chr7:48466497-48466781	MCF-7	breast:	n/a	chr7:48466632-48466643
36	CEBPB	chr7:48473100-48473293	K562	blood:	n/a	chr7:48473193-48473204
37	CEBPB	chr7:48531253-48531488	HepG2	liver:	n/a	chr7:48531357-48531368 chr7:48531357-48531370
38	CEBPB	chr7:48510492-48510812	K562	blood:	n/a	chr7:48510656-48510667 chr7:48510656-48510665 chr7:48510654-48510665
39	CEBPB	chr7:48498727-48499141	MCF-7	breast:	n/a	chr7:48498891-48498904
40	CEBPB	chr7:48510500-48510740	A549	lung:	n/a	chr7:48510656-48510667 chr7:48510656-48510665 chr7:48510654-48510665
41	CEBPB	chr7:48501342-48501446	HepG2	liver:	n/a	n/a
42	CEBPB	chr7:48510520-48510805	HepG2	liver:	n/a	chr7:48510656-48510667 chr7:48510656-48510665 chr7:48510654-48510665
43	CEBPB	chr7:48473077-48473360	A549	lung:	n/a	chr7:48473193-48473204
44	CEBPB	chr7:48498776-48499010	A549	lung:	n/a	chr7:48498891-48498904
45	CEBPB	chr7:48545495-48545834	HepG2	liver:	n/a	chr7:48545643-48545654
46	CEBPB	chr7:48500568-48500665	A549	lung:	n/a	chr7:48500623-48500634
47	CEBPB	chr7:48350535-48350812	HepG2	liver:	n/a	chr7:48350667-48350680 chr7:48350667-48350678
48	CEBPB	chr7:48473131-48473331	Hela-S3	cervix:	n/a	chr7:48473193-48473204
49	CEBPB	chr7:48498754-48499043	Hela-S3	cervix:	n/a	chr7:48498891-48498904
50	CEBPB	chr7:48338242-48338875	IMR90	lung:	n/a	chr7:48338420-48338431 chr7:48338420-48338431 chr7:48338418-48338431 chr7:48338415-48338432

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:48352531-48352581	HAEpiC	amniotic membrane:	n/a
2	chr7:48352531-48352581	HAEpiC	amniotic membrane:	n/a
3	chr7:48495215-48495265	HL-60	blood:	n/a
4	chr7:48494156-48494206	GM12878	blood:	n/a
5	chr7:48495215-48495265	HRCEpiC	kidney:	n/a
6	chr7:48493792-48493842	CMK	blood:	n/a
7	chr7:48494519-48494569	GM12891	blood:	n/a
8	chr7:48495072-48495122	Jurkat	blood:	n/a
9	chr7:48494156-48494206	HCPEpiC	choroid plexus:	n/a
10	chr7:48493792-48493842	ECC-1	luminal epithelium:	n/a
11	chr7:48351495-48351545	AG04449	skin:	fetal
12	chr7:48491590-48491640	NHDF-neo	bronchial:	n/a
13	chr7:48494362-48494412	Jurkat	blood:	n/a
14	chr7:48494519-48494569	GM12878	blood:	n/a
15	chr7:48351495-48351545	HEEpiC	esophagus:	n/a
16	chr7:48491590-48491640	HCM	heart:	n/a
17	chr7:48491590-48491640	HPAEpiC	pulmonary alveolar:	n/a
18	chr7:48495333-48495383	Hepatocyte	liver:	n/a
19	chr7:48495215-48495265	AG04450	lung:	fetal
20	chr7:48495333-48495383	AG09319	gingival:	n/a
21	chr7:48491590-48491640	GM12891	blood:	n/a
22	chr7:48495333-48495383	NH-A	brain:	n/a
23	chr7:48493792-48493842	AG04449	skin:	fetal
24	chr7:48495333-48495383	BJ	skin:	n/a
25	chr7:48495157-48495207	NHDF-neo	bronchial:	n/a
26	chr7:48494519-48494569	NHBE	bronchial:	n/a
27	chr7:48495215-48495265	SK-N-SH	brain:	n/a
28	chr7:48491590-48491640	RPTEC	kidney:	n/a
29	chr7:48495072-48495122	SAEC	small airway:	n/a
30	chr7:48493792-48493842	PFSK-1	brain:	n/a
31	chr7:48495215-48495265	AoSMC	blood vessel:	n/a
32	chr7:48494362-48494412	SKMC	muscle:	n/a
33	chr7:48495072-48495122	HNPCEpiC	eye:	n/a
34	chr7:48493792-48493842	LNCaP	prostate:	n/a
35	chr7:48495072-48495122	NT2-D1	testis:	n/a
36	chr7:48319696-48319746	AG09309	skin:	n/a
37	chr7:48495157-48495207	BE2_C	brain:	n/a
38	chr7:48494362-48494412	NH-A	brain:	n/a
39	chr7:48351495-48351545	HAEpiC	amniotic membrane:	n/a
40	chr7:48491590-48491640	BJ	skin:	n/a
41	chr7:48494608-48494658	Caco-2	colon:	n/a
42	chr7:48495215-48495265	HRPEpiC	eye:	n/a
43	chr7:48493792-48493842	HPAEpiC	pulmonary alveolar:	n/a
44	chr7:48495072-48495122	RPTEC	kidney:	n/a
45	chr7:48352531-48352581	HEK293	kidney:	embryo
46	chr7:48495157-48495207	ECC-1	luminal epithelium:	n/a
47	chr7:48491590-48491640	NB4	blood:	n/a
48	chr7:48495215-48495265	Jurkat	blood:	n/a
49	chr7:48493792-48493842	Jurkat	blood:	n/a
50	chr7:48351895-48351945	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:48376419..48377077-chr7:49891980..49892898,2	MCF-7	breast:
2	chr7:48464131..48464720-chr7:49830437..49831304,2	MCF-7	breast:
3	chr7:48338977..48339698-chr7:48914621..48915709,3	MCF-7	breast:
4	chr7:48375884..48377251-chr7:48914594..48915844,5	MCF-7	breast:
5	chr7:48339292..48339820-chr7:49892008..49892873,2	MCF-7	breast:
6	chr7:48350873..48351428-chr7:48826215..48827185,2	MCF-7	breast:
7	chr7:48464147..48465026-chr7:48914660..48915807,4	MCF-7	breast:
8	chr7:48464066..48464994-chr7:48914675..48915561,3	MCF-7	breast:
9	chr7:48513865..48515812-chr7:49402658..49405453,2	K562	blood:
10	chr7:48464162..48465007-chr7:49040934..49041504,2	MCF-7	breast:
11	chr7:48339343..48339865-chr7:49892019..49892834,2	K562	blood:
12	chr7:48376280..48377237-chrX:150918854..150919433,2	MCF-7	breast:

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: 9337 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:9337 , 50 per page) page: 1 2 3 4 5 6 7 ... 187

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559748316	chr7:48302795-48302796	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573382610	chr7:48302817-48302818	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542234005	chr7:48302853-48302854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541469158	chr7:48302918-48302919	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182182123	chr7:48302939-48302940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117701272	chr7:48302970-48302971	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564648333	chr7:48303010-48303011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1526096	chr7:48303081-48303082	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs150414982	chr7:48303108-48303109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565430233	chr7:48303140-48303141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77963037	chr7:48303151-48303152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117336604	chr7:48303185-48303186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73697111	chr7:48303204-48303205	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563889370	chr7:48303241-48303242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567753909	chr7:48303243-48303244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374491311	chr7:48303244-48303245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17132180	chr7:48303248-48303249	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs1526095	chr7:48303266-48303267	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10499674	chr7:48303297-48303298	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs529034980	chr7:48303298-48303299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539576132	chr7:48303342-48303343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553244647	chr7:48303454-48303455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573371892	chr7:48303521-48303522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368569991	chr7:48303543-48303544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542368947	chr7:48303547-48303548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79475641	chr7:48303637-48303638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575681961	chr7:48303638-48303639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60243824	chr7:48303640-48303641	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186320586	chr7:48303771-48303772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78938050	chr7:48303785-48303786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74380327	chr7:48303796-48303797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560345298	chr7:48303838-48303839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369163900	chr7:48303844-48303845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528159866	chr7:48303854-48303855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547848746	chr7:48303858-48303859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34006993	chr7:48303902-48303903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567834138	chr7:48303923-48303924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530476254	chr7:48303935-48303936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549970115	chr7:48304033-48304034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77115567	chr7:48304037-48304038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62449188	chr7:48304074-48304075	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs62449189	chr7:48304089-48304090	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs553181640	chr7:48304092-48304093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541787715	chr7:48304098-48304099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369506833	chr7:48304110-48304111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566705746	chr7:48304113-48304114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190385322	chr7:48304125-48304126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555851046	chr7:48304169-48304170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4352796	chr7:48304295-48304296	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs141225185	chr7:48304322-48304323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD

Chromatin state (count:653 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48292200-48308600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:48296600-48308800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:48299600-48304600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:48302400-48303000	Enhancers	Fetal Heart	heart
5	chr7:48302600-48308200	Weak transcription	NHLF	lung
6	chr7:48303000-48308800	Weak transcription	Fetal Heart	heart
7	chr7:48304600-48308200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:48308200-48308400	Enhancers	NHLF	lung
9	chr7:48308200-48315600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:48308400-48309000	Weak transcription	NHLF	lung
11	chr7:48308600-48309600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:48308800-48309400	Enhancers	Fetal Heart	heart
13	chr7:48308800-48309400	Enhancers	NHEK	skin
14	chr7:48309000-48309200	Enhancers	NHLF	lung
15	chr7:48309000-48309600	Enhancers	HMEC	breast
16	chr7:48309200-48309600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:48309200-48314000	Weak transcription	NHLF	lung
18	chr7:48309400-48310400	Weak transcription	Fetal Heart	heart
19	chr7:48309400-48314000	Weak transcription	NHEK	skin
20	chr7:48309600-48314000	Weak transcription	HMEC	breast
21	chr7:48309600-48314200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:48309600-48314200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:48310400-48311000	Enhancers	Fetal Heart	heart
24	chr7:48314000-48314400	Enhancers	NHEK	skin
25	chr7:48314000-48314600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:48314000-48314800	Enhancers	HMEC	breast
27	chr7:48314000-48314800	Enhancers	NHLF	lung
28	chr7:48314000-48315000	Enhancers	HUVEC	blood vessel
29	chr7:48314200-48314600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:48314200-48314800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:48314200-48315000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:48314400-48314600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:48314600-48319200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:48314600-48319400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:48314800-48316600	Weak transcription	NHLF	lung
36	chr7:48314800-48318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:48314800-48319000	Weak transcription	HMEC	breast
38	chr7:48315600-48319800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:48316600-48317600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:48316600-48317600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:48316600-48317600	Enhancers	NHLF	lung
42	chr7:48316800-48317200	Enhancers	Fetal Thymus	thymus
43	chr7:48316800-48317200	Enhancers	Thymus	Thymus
44	chr7:48316800-48317600	Enhancers	Primary hematopoietic stem cells	blood
45	chr7:48317200-48319200	Weak transcription	Thymus	Thymus
46	chr7:48317200-48319800	Weak transcription	Fetal Thymus	thymus
47	chr7:48317600-48317800	Weak transcription	NHLF	lung
48	chr7:48317600-48318800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:48317600-48319000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr7:48317600-48319000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links