Variant report

Variant	nsv533811
Chromosome Location	chr7:48313757-48482470
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	chr7:48338313-48338712	GM12878	blood:	n/a	n/a
4	ATF2	chr7:48338249-48338768	GM12878	blood:	n/a	n/a
5	BATF	chr7:48338311-48338717	GM12878	blood:	n/a	n/a
6	BCL11A	chr7:48338302-48338688	GM12878	blood:	n/a	n/a
7	BCL3	chr7:48400193-48400497	GM12878	blood:	n/a	n/a
8	BCL3	chr7:48400134-48400508	GM12878	blood:	n/a	n/a
9	BCL3	chr7:48338337-48338739	GM12878	blood:	n/a	n/a
10	BHLHE40	chr7:48430530-48430791	GM12878	blood:	n/a	n/a
11	BRCA1	chr7:48354292-48354447	GM12878	blood:	n/a	n/a
12	CCNT2	chr7:48470894-48471088	K562	blood:	n/a	n/a
13	CEBPB	chr7:48350426-48350947	MCF-7	breast:	n/a	chr7:48350667-48350680 chr7:48350667-48350678
14	CEBPB	chr7:48473131-48473331	Hela-S3	cervix:	n/a	chr7:48473193-48473204
15	CEBPB	chr7:48325066-48325403	IMR90	lung:	n/a	n/a
16	CEBPB	chr7:48473031-48473381	IMR90	lung:	n/a	chr7:48473193-48473204
17	CEBPB	chr7:48319620-48320074	IMR90	lung:	n/a	n/a
18	CEBPB	chr7:48429541-48429870	IMR90	lung:	n/a	n/a
19	CEBPB	chr7:48351809-48352083	IMR90	lung:	n/a	n/a
20	CEBPB	chr7:48428785-48428793	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr7:48338242-48338875	IMR90	lung:	n/a	chr7:48338420-48338431 chr7:48338420-48338431 chr7:48338418-48338431 chr7:48338415-48338432
22	CEBPB	chr7:48340830-48341054	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr7:48318208-48318512	A549	lung:	n/a	n/a
24	CEBPB	chr7:48473100-48473293	K562	blood:	n/a	chr7:48473193-48473204
25	CEBPB	chr7:48318281-48318407	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr7:48473078-48473360	HepG2	liver:	n/a	chr7:48473193-48473204
27	CEBPB	chr7:48456467-48456702	HepG2	liver:	n/a	chr7:48456564-48456577 chr7:48456564-48456575
28	CEBPB	chr7:48429601-48429900	MCF-7	breast:	n/a	n/a
29	CEBPB	chr7:48392408-48392683	HepG2	liver:	n/a	chr7:48392560-48392569 chr7:48392558-48392569
30	CEBPB	chr7:48350481-48350752	MCF-7	breast:	n/a	chr7:48350667-48350680 chr7:48350667-48350678
31	CEBPB	chr7:48429446-48429963	MCF-7	breast:	n/a	n/a
32	CEBPB	chr7:48456901-48457130	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr7:48350535-48350812	HepG2	liver:	n/a	chr7:48350667-48350680 chr7:48350667-48350678
34	CEBPB	chr7:48350592-48350791	IMR90	lung:	n/a	chr7:48350667-48350680 chr7:48350667-48350678
35	CEBPB	chr7:48466497-48466781	MCF-7	breast:	n/a	chr7:48466632-48466643
36	CEBPB	chr7:48473077-48473360	A549	lung:	n/a	chr7:48473193-48473204
37	CEBPB	chr7:48318199-48318505	HepG2	liver:	n/a	n/a
38	CHD1	chr7:48383066-48383084	GM12878	blood:	n/a	n/a
39	CTCF	chr7:48339032-48339757	A549	lung:	n/a	chr7:48339360-48339378 chr7:48339362-48339383
40	CTCF	chr7:48456340-48456490	GM12864	blood:	n/a	n/a
41	CTCF	chr7:48456180-48456330	MCF-7	breast:	n/a	n/a
42	CTCF	chr7:48339320-48339470	HCFaa	heart:	n/a	chr7:48339360-48339378 chr7:48339362-48339383
43	CTCF	chr7:48339300-48339450	MCF-7	breast:	n/a	chr7:48339360-48339378 chr7:48339362-48339383
44	CTCF	chr7:48450220-48450370	K562	blood:	n/a	n/a
45	CTCF	chr7:48456240-48456390	GM12865	blood:	n/a	n/a
46	CTCF	chr7:48464427-48464706	LNCaP	prostate:	n/a	chr7:48464560-48464581 chr7:48464558-48464576
47	CTCF	chr7:48464423-48464697	MCF-7	breast:	n/a	chr7:48464560-48464581 chr7:48464558-48464576
48	CTCF	chr7:48339300-48339450	GM12874	blood:	n/a	chr7:48339360-48339378 chr7:48339362-48339383
49	CTCF	chr7:48391060-48391210	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr7:48456220-48456370	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:48319696-48319746	PFSK-1	brain:	n/a
2	chr7:48351895-48351945	AG10803	skin:	n/a
3	chr7:48351895-48351945	H1-hESC	embryonic stem cell:	embryo
4	chr7:48352531-48352581	H1-hESC	embryonic stem cell:	embryo
5	chr7:48351895-48351945	HIPEpiC	eye:	n/a
6	chr7:48351495-48351545	SK-N-SH_RA	brain:	n/a
7	chr7:48352531-48352581	LNCaP	prostate:	n/a
8	chr7:48351495-48351545	HPAEpiC	pulmonary alveolar:	n/a
9	chr7:48351895-48351945	HEK293	kidney:	embryo
10	chr7:48319696-48319746	NHBE	bronchial:	n/a
11	chr7:48352531-48352581	T-47D	breast:	n/a
12	chr7:48319696-48319746	MCF-7	breast:	n/a
13	chr7:48352531-48352581	ProgFib	skin:	n/a
14	chr7:48351895-48351945	HRCEpiC	kidney:	n/a
15	chr7:48352531-48352581	HAEpiC	amniotic membrane:	n/a
16	chr7:48319696-48319746	AG04449	skin:	fetal
17	chr7:48351895-48351945	HepG2	liver:	n/a
18	chr7:48319696-48319746	K562	blood:	n/a
19	chr7:48352531-48352581	Hepatocyte	liver:	n/a
20	chr7:48351495-48351545	HAEpiC	amniotic membrane:	n/a
21	chr7:48352531-48352581	Caco-2	colon:	n/a
22	chr7:48351895-48351945	HL-60	blood:	n/a
23	chr7:48352531-48352581	RPTEC	kidney:	n/a
24	chr7:48351495-48351545	PANC-1	pancreas:	n/a
25	chr7:48351895-48351945	PrEC	prostate:	n/a
26	chr7:48351495-48351545	SKMC	muscle:	n/a
27	chr7:48351495-48351545	AoSMC	blood vessel:	n/a
28	chr7:48351895-48351945	AoSMC	blood vessel:	n/a
29	chr7:48351495-48351545	GM12891	blood:	n/a
30	chr7:48351895-48351945	NH-A	brain:	n/a
31	chr7:48352531-48352581	HCF	heart:	n/a
32	chr7:48351495-48351545	HMEC	breast:	n/a
33	chr7:48351895-48351945	LNCaP	prostate:	n/a
34	chr7:48351495-48351545	GM12878	blood:	n/a
35	chr7:48351895-48351945	U87	brain:	n/a
36	chr7:48352531-48352581	HCM	heart:	n/a
37	chr7:48352531-48352581	PANC-1	pancreas:	n/a
38	chr7:48351895-48351945	Jurkat	blood:	n/a
39	chr7:48351495-48351545	HCF	heart:	n/a
40	chr7:48351895-48351945	Caco-2	colon:	n/a
41	chr7:48351495-48351545	NH-A	brain:	n/a
42	chr7:48352531-48352581	U87	brain:	n/a
43	chr7:48351895-48351945	SK-N-MC	brain:	n/a
44	chr7:48352531-48352581	HEK293	kidney:	embryo
45	chr7:48351895-48351945	SK-N-SH_RA	brain:	n/a
46	chr7:48352531-48352581	CMK	blood:	n/a
47	chr7:48351895-48351945	ECC-1	luminal epithelium:	n/a
48	chr7:48351895-48351945	AG09309	skin:	n/a
49	chr7:48351895-48351945	PFSK-1	brain:	n/a
50	chr7:48352531-48352581	HNPCEpiC	eye:	n/a

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

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

Extended variants
information (count: 6653 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:6653 , 50 per page) page: 1 2 3 4 5 6 7 ... 134

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77190804	chr7:48313757-48313758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202057075	chr7:48313768-48313769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376695501	chr7:48313778-48313779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571341807	chr7:48313783-48313784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370867441	chr7:48313786-48313787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373401108	chr7:48313791-48313792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117812446	chr7:48313804-48313805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200473848	chr7:48313843-48313844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190625179	chr7:48313854-48313855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371038088	chr7:48313859-48313860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373649392	chr7:48313870-48313871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17712299	chr7:48313881-48313882	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs370463927	chr7:48313895-48313896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200453437	chr7:48313898-48313899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374880434	chr7:48313927-48313928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6583483	chr7:48313949-48313950	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs372531068	chr7:48313975-48313976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377100313	chr7:48313976-48313977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544802648	chr7:48314001-48314002	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368417412	chr7:48314014-48314015	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372831261	chr7:48314019-48314020	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564767689	chr7:48314030-48314031	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572193596	chr7:48314047-48314048	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374881191	chr7:48314061-48314062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182423801	chr7:48314065-48314066	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187897703	chr7:48314102-48314103	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200426734	chr7:48314109-48314110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530062826	chr7:48314133-48314134	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142391487	chr7:48314151-48314152	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376258229	chr7:48314227-48314228	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563966375	chr7:48314230-48314231	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532883059	chr7:48314231-48314232	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201605876	chr7:48314265-48314266	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566240276	chr7:48314266-48314267	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6955212	chr7:48314279-48314280	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs199529999	chr7:48314298-48314299	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570541118	chr7:48314302-48314303	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17132196	chr7:48314330-48314331	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs200658014	chr7:48314356-48314357	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193007433	chr7:48314389-48314390	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555935052	chr7:48314434-48314435	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376102365	chr7:48314436-48314437	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569594391	chr7:48314439-48314440	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370565202	chr7:48314442-48314443	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553432719	chr7:48314451-48314452	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373958996	chr7:48314460-48314461	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183356080	chr7:48314528-48314529	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558442974	chr7:48314532-48314533	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367887534	chr7:48314577-48314578	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370668802	chr7:48314592-48314593	Enhancers 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:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48308200-48315600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:48309200-48314000	Weak transcription	NHLF	lung
3	chr7:48309400-48314000	Weak transcription	NHEK	skin
4	chr7:48309600-48314000	Weak transcription	HMEC	breast
5	chr7:48309600-48314200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:48309600-48314200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:48314000-48314400	Enhancers	NHEK	skin
8	chr7:48314000-48314600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:48314000-48314800	Enhancers	HMEC	breast
10	chr7:48314000-48314800	Enhancers	NHLF	lung
11	chr7:48314000-48315000	Enhancers	HUVEC	blood vessel
12	chr7:48314200-48314600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:48314200-48314800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:48314200-48315000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:48314400-48314600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:48314600-48319200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:48314600-48319400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:48314800-48316600	Weak transcription	NHLF	lung
19	chr7:48314800-48318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:48314800-48319000	Weak transcription	HMEC	breast
21	chr7:48315600-48319800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:48316600-48317600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:48316600-48317600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:48316600-48317600	Enhancers	NHLF	lung
25	chr7:48316800-48317200	Enhancers	Fetal Thymus	thymus
26	chr7:48316800-48317200	Enhancers	Thymus	Thymus
27	chr7:48316800-48317600	Enhancers	Primary hematopoietic stem cells	blood
28	chr7:48317200-48319200	Weak transcription	Thymus	Thymus
29	chr7:48317200-48319800	Weak transcription	Fetal Thymus	thymus
30	chr7:48317600-48317800	Weak transcription	NHLF	lung
31	chr7:48317600-48318800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:48317600-48319000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr7:48317600-48319000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:48317800-48318200	Enhancers	NHLF	lung
35	chr7:48318000-48319200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:48318200-48318600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:48318200-48319000	Weak transcription	NHLF	lung
38	chr7:48318200-48320600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:48318400-48320400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:48318600-48319800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:48318800-48320600	Enhancers	NHEK	skin
42	chr7:48318800-48322000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:48319000-48320600	Enhancers	HMEC	breast
44	chr7:48319000-48321400	Enhancers	NHLF	lung
45	chr7:48319000-48322000	Enhancers	Primary hematopoietic stem cells	blood
46	chr7:48319000-48322000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:48319200-48319600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:48319200-48320200	Enhancers	Osteobl	bone
49	chr7:48319200-48320600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:48319200-48322200	Enhancers	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links