Variant report

Variant	nsv966557
Chromosome Location	chr4:48577320-48618907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:434)
CpG islands
(count:0)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:434 , 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	chr4:48580424-48580701	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:48597297-48597435	K562	blood:	n/a	n/a
3	ARID3A	chr4:48593472-48593744	K562	blood:	n/a	n/a
4	ARID3A	chr4:48605411-48605798	HepG2	liver:	n/a	n/a
5	ATF1	chr4:48593488-48593917	K562	blood:	n/a	n/a
6	ATF3	chr4:48578069-48578255	K562	blood:	n/a	n/a
7	ATF3	chr4:48580349-48580732	K562	blood:	n/a	n/a
8	BHLHE40	chr4:48593502-48593748	K562	blood:	n/a	n/a
9	CEBPB	chr4:48587083-48587650	HepG2	liver:	n/a	chr4:48587132-48587143
10	CEBPB	chr4:48593433-48593635	K562	blood:	n/a	n/a
11	CEBPB	chr4:48580364-48580763	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr4:48580342-48580686	HepG2	liver:	n/a	n/a
13	CEBPB	chr4:48578067-48578310	IMR90	lung:	n/a	n/a
14	CEBPB	chr4:48590406-48590488	K562	blood:	n/a	n/a
15	CEBPB	chr4:48605461-48605614	HepG2	liver:	n/a	n/a
16	CEBPB	chr4:48580385-48580671	A549	lung:	n/a	n/a
17	CEBPB	chr4:48580371-48580676	IMR90	lung:	n/a	n/a
18	CEBPB	chr4:48580360-48580752	K562	blood:	n/a	n/a
19	CEBPB	chr4:48604365-48604572	IMR90	lung:	n/a	n/a
20	CEBPB	chr4:48590311-48590495	HepG2	liver:	n/a	n/a
21	CEBPB	chr4:48604826-48605217	IMR90	lung:	n/a	n/a
22	CTCF	chr4:48580500-48580650	HL-60	blood:	n/a	chr4:48580571-48580584
23	CTCF	chr4:48580460-48580610	HUVEC	blood vessel:	n/a	chr4:48580571-48580584
24	CTCF	chr4:48580500-48580650	GM12873	blood:	n/a	chr4:48580571-48580584
25	CTCF	chr4:48590790-48590886	K562	blood:	n/a	n/a
26	CTCF	chr4:48580481-48580717	GM19238	blood:	n/a	chr4:48580571-48580584
27	CTCF	chr4:48590760-48590910	AG09319	gingival:	n/a	n/a
28	CTCF	chr4:48580463-48580691	LNCaP	prostate:	n/a	chr4:48580571-48580584
29	CTCF	chr4:48580500-48580650	RPTEC	kidney:	n/a	chr4:48580571-48580584
30	CTCF	chr4:48580500-48580650	GM12878	blood:	n/a	chr4:48580571-48580584
31	CTCF	chr4:48580540-48580690	GM12866	blood:	n/a	chr4:48580571-48580584
32	CTCF	chr4:48580520-48580670	GM12871	blood:	n/a	chr4:48580571-48580584
33	CTCF	chr4:48580440-48580590	HVMF	connective:	n/a	chr4:48580571-48580584
34	CTCF	chr4:48580420-48580570	WI-38	lung:	n/a	n/a
35	CTCF	chr4:48580460-48580610	HEK293	kidney:	n/a	chr4:48580571-48580584
36	CTCF	chr4:48580500-48580650	Caco-2	colon:	n/a	chr4:48580571-48580584
37	CTCF	chr4:48580236-48580847	HCT-116	colon:	n/a	chr4:48580571-48580584
38	CTCF	chr4:48580420-48580570	RPTEC	kidney:	n/a	n/a
39	CTCF	chr4:48590740-48590890	HCFaa	heart:	n/a	n/a
40	CTCF	chr4:48580300-48580862	MCF-7	breast:	n/a	chr4:48580571-48580584
41	CTCF	chr4:48590700-48590850	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr4:48580480-48580630	GM12865	blood:	n/a	chr4:48580571-48580584
43	CTCF	chr4:48580520-48580655	H1-hESC	embryonic stem cell:	n/a	chr4:48580571-48580584
44	CTCF	chr4:48580447-48580675	HepG2	liver:	n/a	chr4:48580571-48580584
45	CTCF	chr4:48580480-48580630	HCM	heart:	n/a	chr4:48580571-48580584
46	CTCF	chr4:48580413-48580729	Spleen_OC	spleen:	n/a	chr4:48580571-48580584
47	CTCF	chr4:48580480-48580630	SAEC	small airway:	n/a	chr4:48580571-48580584
48	CTCF	chr4:48580440-48580657	A549	lung:	n/a	chr4:48580571-48580584
49	CTCF	chr4:48580500-48580650	BJ	skin:	n/a	chr4:48580571-48580584
50	CTCF	chr4:48580460-48580610	GM12868	blood:	n/a	chr4:48580571-48580584

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:48576864..48578418-chr4:48583302..48585934,2	K562	blood:
2	chr4:48573447..48576202-chr4:48576256..48578868,3	K562	blood:
3	chr4:48575741..48577955-chr4:48579007..48580863,2	K562	blood:
4	chr4:48573447..48576202-chr4:48576256..48578192,2	K562	blood:
5	chr4:48581741..48583437-chr4:48781686..48783463,2	MCF-7	breast:
6	chr4:48580097..48581053-chr4:48964810..48965685,4	K562	blood:
7	chr4:48596538..48599172-chr4:48601741..48603320,2	K562	blood:
8	chr4:48580560..48583320-chr4:48586437..48588078,2	K562	blood:
9	chr4:48580499..48581018-chr4:48898572..48899152,2	MCF-7	breast:
10	chr4:48579844..48581461-chr4:48964715..48966249,12	MCF-7	breast:
11	chr4:48596538..48599172-chr4:48601741..48603320,2	K562	blood:
12	chr4:48580146..48580771-chr4:48964761..48965396,2	MCF-7	breast:
13	chr4:48604072..48606104-chr4:48608463..48610231,2	MCF-7	breast:
14	chr4:48592723..48596474-chr4:48596603..48599281,4	K562	blood:
15	chr4:48615973..48618309-chr4:48625425..48627835,2	K562	blood:
16	chr4:48556937..48558683-chr4:48576699..48578882,2	MCF-7	breast:
17	chr4:48609348..48611174-chr4:48646484..48649204,2	MCF-7	breast:
18	chr4:48579352..48581122-chr4:48952741..48955150,2	K562	blood:
19	chr4:48577348..48579735-chr4:48781107..48783009,2	MCF-7	breast:
20	chr4:48610440..48612652-chr4:48613974..48616087,2	MCF-7	breast:
21	chr4:48579089..48581079-chr4:48904925..48906669,3	MCF-7	breast:
22	chr4:48435674..48437521-chr4:48577524..48579484,2	K562	blood:
23	chr4:48581199..48583322-chr4:48590838..48593348,2	MCF-7	breast:
24	chr4:48617803..48619987-chr4:48625513..48627565,2	K562	blood:
25	chr4:48590381..48593753-chr4:48779651..48782070,3	K562	blood:
26	chr4:48610440..48612652-chr4:48613974..48616087,2	MCF-7	breast:
27	chr4:48580560..48583320-chr4:48586437..48588078,2	K562	blood:
28	chr4:48581199..48583322-chr4:48590838..48593348,2	MCF-7	breast:
29	chr4:48593211..48596100-chr4:48831975..48834046,2	K562	blood:
30	chr4:48595665..48598613-chr4:48625026..48627031,2	K562	blood:
31	chr4:48586327..48590238-chr4:48780231..48783624,4	MCF-7	breast:
32	chr4:48607501..48609482-chr4:48614697..48616490,2	K562	blood:
33	chr4:48580476..48581095-chr4:48946367..48946964,2	K562	blood:
34	chr4:48590381..48593242-chr4:48779651..48782070,2	K562	blood:
35	chr4:48592723..48596474-chr4:48596603..48599281,4	K562	blood:
36	chr4:48604072..48606104-chr4:48608463..48610231,2	MCF-7	breast:
37	chr4:48576864..48578418-chr4:48583302..48585934,2	K562	blood:

No data

Variant related genes	Relation type
FRYL	TF binding region
RNU5E-3P	TF binding region
ENSG00000109180	chromatin interactions
ENSG00000075539	chromatin interactions
ENSG00000251722	chromatin interactions

Extended variants
information (count: 1372 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1372 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568082290	chr4:48577382-48577383	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535121759	chr4:48577386-48577387	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs151158003	chr4:48577406-48577407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559664513	chr4:48577407-48577408	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571813181	chr4:48577435-48577436	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372112960	chr4:48577447-48577448	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533183411	chr4:48577532-48577533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545152034	chr4:48577677-48577678	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558770572	chr4:48577703-48577704	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs73817809	chr4:48577708-48577709	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530579354	chr4:48577748-48577749	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs544921965	chr4:48577776-48577777	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs35550991	chr4:48577795-48577796	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs563052411	chr4:48577832-48577833	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs575047590	chr4:48577858-48577859	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs373380914	chr4:48577864-48577865	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs541858789	chr4:48577948-48577949	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368269663	chr4:48578052-48578053	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs372864812	chr4:48578060-48578061	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs560480126	chr4:48578063-48578064	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs375943517	chr4:48578067-48578068	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs140093859	chr4:48578071-48578072	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs368798359	chr4:48578084-48578085	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs371821990	chr4:48578099-48578100	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs376571442	chr4:48578100-48578101	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs540773268	chr4:48578103-48578104	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs369198633	chr4:48578137-48578138	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs373507517	chr4:48578140-48578141	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs548799940	chr4:48578161-48578162	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs564300841	chr4:48578162-48578163	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs561393970	chr4:48578227-48578228	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs200906045	chr4:48578245-48578246	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs531391184	chr4:48578255-48578256	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs376526826	chr4:48578285-48578286	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs549914084	chr4:48578291-48578292	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs566960026	chr4:48578345-48578346	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs146923061	chr4:48578366-48578367	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs368864304	chr4:48578455-48578456	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs565329396	chr4:48578465-48578466	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs113171338	chr4:48578478-48578479	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs142305034	chr4:48578504-48578505	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs528481719	chr4:48578520-48578521	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs528056352	chr4:48578686-48578687	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570985851	chr4:48578735-48578736	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs538076633	chr4:48578782-48578783	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115012384	chr4:48578784-48578785	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575040850	chr4:48578816-48578817	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192688587	chr4:48578848-48578849	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376491919	chr4:48578866-48578867	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553471449	chr4:48578909-48578910	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Basal cell lymphoma	21115979	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1268 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48498600-48593000	Strong transcription	Rectal Mucosa Donor 31	rectum
2	chr4:48499000-48578800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:48499000-48589400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr4:48499600-48581400	Strong transcription	Dnd41	blood
5	chr4:48500200-48588800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr4:48501400-48578600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr4:48515800-48625000	Weak transcription	Hela-S3	cervix
8	chr4:48525000-48595600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:48528200-48596000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:48540600-48580400	Strong transcription	Fetal Intestine Large	intestine
11	chr4:48541000-48580600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:48541000-48587800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:48541200-48594000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr4:48541400-48581200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr4:48541600-48581400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:48541800-48579800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr4:48542800-48604400	Weak transcription	A549	lung
18	chr4:48545200-48618200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:48546400-48596400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:48546600-48578600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:48547400-48578800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:48547400-48593600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:48555000-48578200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:48556000-48581400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:48556800-48578400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:48557800-48622400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:48559800-48604400	Weak transcription	HepG2	liver
28	chr4:48560800-48578800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:48561200-48581200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:48561400-48604400	Weak transcription	Stomach Mucosa	stomach
31	chr4:48562600-48596600	Weak transcription	Fetal Brain Male	brain
32	chr4:48562800-48590400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:48562800-48623200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:48563000-48637400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:48563200-48587000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:48563400-48593600	Weak transcription	Spleen	Spleen
37	chr4:48564000-48578400	Weak transcription	Gastric	stomach
38	chr4:48564800-48578600	Strong transcription	Fetal Thymus	thymus
39	chr4:48566000-48578400	Weak transcription	Fetal Kidney	kidney
40	chr4:48566600-48587600	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:48568600-48578200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr4:48571400-48578600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:48571800-48578200	Strong transcription	Liver	Liver
44	chr4:48571800-48578600	Strong transcription	Primary hematopoietic stem cells	blood
45	chr4:48572200-48578000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:48572400-48578000	Weak transcription	Aorta	Aorta
47	chr4:48572400-48578000	Weak transcription	Fetal Stomach	stomach
48	chr4:48572600-48582600	Weak transcription	Brain Germinal Matrix	brain
49	chr4:48573200-48586200	Weak transcription	Psoas Muscle	Psoas
50	chr4:48573200-48590000	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links