Variant report

Variant	nsv883020
Chromosome Location	chr5:147649181-147688035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:348)
CpG islands
(count:61)
Chromatin interactive
region (count:21)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:147656764-147656871	K562	blood:	n/a	n/a
2	CEBPB	chr5:147670204-147670441	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr5:147669913-147670425	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr5:147671442-147671605	K562	blood:	n/a	n/a
5	CEBPB	chr5:147677446-147677624	Hela-S3	cervix:	n/a	n/a
6	CHD2	chr5:147660593-147660796	GM12878	blood:	n/a	n/a
7	CTCF	chr5:147670227-147670416	GM10266	blood:	n/a	n/a
8	CTCF	chr5:147686140-147686290	HMEC	breast:	n/a	chr5:147686201-147686219
9	CTCF	chr5:147670240-147670390	HBMEC	blood vessel:	n/a	n/a
10	CTCF	chr5:147670196-147670497	K562	blood:	n/a	n/a
11	CTCF	chr5:147670200-147670350	HEK293	kidney:	n/a	n/a
12	CTCF	chr5:147677410-147677587	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr5:147670087-147670607	MCF-7	breast:	n/a	n/a
14	CTCF	chr5:147670240-147670390	GM12878	blood:	n/a	n/a
15	CTCF	chr5:147670240-147670390	HPF	lung:	n/a	n/a
16	CTCF	chr5:147670260-147670410	AG09309	skin:	n/a	n/a
17	CTCF	chr5:147670280-147670430	HVMF	connective:	n/a	n/a
18	CTCF	chr5:147686102-147686275	MCF-7	breast:	n/a	chr5:147686201-147686219
19	CTCF	chr5:147670260-147670410	BJ	skin:	n/a	n/a
20	CTCF	chr5:147677512-147677562	NHEK	skin:	n/a	n/a
21	CTCF	chr5:147686120-147686270	HRPEpiC	eye:	n/a	chr5:147686201-147686219
22	CTCF	chr5:147686100-147686250	MCF-7	breast:	n/a	chr5:147686201-147686219
23	CTCF	chr5:147670380-147670530	HFF-Myc	foreskin:	n/a	n/a
24	CTCF	chr5:147686180-147686330	HAc	cerebellar:	n/a	chr5:147686201-147686219
25	CTCF	chr5:147670340-147670490	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr5:147670263-147670422	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr5:147686099-147686300	NHEK	skin:	n/a	chr5:147686201-147686219
28	CTCF	chr5:147670320-147670470	NHEK	skin:	n/a	n/a
29	CTCF	chr5:147670240-147670390	GM12866	blood:	n/a	n/a
30	CTCF	chr5:147670280-147670430	GM12875	blood:	n/a	n/a
31	CTCF	chr5:147670240-147670390	NHLF	lung:	n/a	n/a
32	CTCF	chr5:147669949-147670034	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:147686039-147686287	H1-hESC	embryonic stem cell:	n/a	chr5:147686201-147686219
34	CTCF	chr5:147670260-147670410	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr5:147686120-147686270	HBMEC	blood vessel:	n/a	chr5:147686201-147686219
36	CTCF	chr5:147686060-147686210	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr5:147670232-147670430	HepG2	liver:	n/a	n/a
38	CTCF	chr5:147670260-147670410	GM06990	blood:	n/a	n/a
39	CTCF	chr5:147670260-147670410	HCM	heart:	n/a	n/a
40	CTCF	chr5:147686140-147686290	Caco-2	colon:	n/a	chr5:147686201-147686219
41	CTCF	chr5:147670260-147670410	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr5:147670240-147670407	GM10248	blood:	n/a	n/a
43	CTCF	chr5:147670260-147670410	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr5:147670221-147670459	LNCaP	prostate:	n/a	n/a
45	CTCF	chr5:147686106-147686246	HepG2	liver:	n/a	chr5:147686201-147686219
46	CTCF	chr5:147670232-147670437	Pancreas_OC	pancreas:	n/a	n/a
47	CTCF	chr5:147670300-147670450	HCM	heart:	n/a	n/a
48	CTCF	chr5:147670216-147670531	T-47D	breast:	n/a	n/a
49	CTCF	chr5:147669993-147670049	Gliobla	brain:	n/a	n/a
50	CTCF	chr5:147686200-147686350	SAEC	small airway:	n/a	chr5:147686201-147686219

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:147651477-147651527	HEEpiC	esophagus:	n/a
2	chr5:147651477-147651527	HNPCEpiC	eye:	n/a
3	chr5:147651477-147651527	HCT-116	colon:	n/a
4	chr5:147651477-147651527	AG04450	lung:	fetal
5	chr5:147651477-147651527	T-47D	breast:	n/a
6	chr5:147651477-147651527	AG04449	skin:	fetal
7	chr5:147651477-147651527	SK-N-MC	brain:	n/a
8	chr5:147651477-147651527	AG10803	skin:	n/a
9	chr5:147651477-147651527	LNCaP	prostate:	n/a
10	chr5:147651477-147651527	PFSK-1	brain:	n/a
11	chr5:147651477-147651527	A549	lung:	n/a
12	chr5:147651477-147651527	GM12891	blood:	n/a
13	chr5:147651477-147651527	SKMC	muscle:	n/a
14	chr5:147651477-147651527	MCF10A-Er-Src	breast:	n/a
15	chr5:147651477-147651527	GM12878	blood:	n/a
16	chr5:147651477-147651527	SAEC	small airway:	n/a
17	chr5:147651477-147651527	RPTEC	kidney:	n/a
18	chr5:147651477-147651527	ovcar-3	ovarian:	n/a
19	chr5:147651477-147651527	BJ	skin:	n/a
20	chr5:147651477-147651527	IMR90	lung:	fetal
21	chr5:147651477-147651527	HRPEpiC	eye:	n/a
22	chr5:147651477-147651527	GM19239	blood:	n/a
23	chr5:147651477-147651527	PrEC	prostate:	n/a
24	chr5:147651477-147651527	SK-N-SH_RA	brain:	n/a
25	chr5:147651477-147651527	GM12892	blood:	n/a
26	chr5:147651477-147651527	HCM	heart:	n/a
27	chr5:147651477-147651527	AoSMC	blood vessel:	n/a
28	chr5:147651477-147651527	NHDF-neo	bronchial:	n/a
29	chr5:147651477-147651527	SK-N-SH	brain:	n/a
30	chr5:147651477-147651527	NH-A	brain:	n/a
31	chr5:147651477-147651527	K562	blood:	n/a
32	chr5:147651477-147651527	HIPEpiC	eye:	n/a
33	chr5:147651477-147651527	AG09309	skin:	n/a
34	chr5:147651477-147651527	ProgFib	skin:	n/a
35	chr5:147651477-147651527	AG09319	gingival:	n/a
36	chr5:147651477-147651527	HL-60	blood:	n/a
37	chr5:147651477-147651527	Hela-S3	cervix:	n/a
38	chr5:147651477-147651527	Jurkat	blood:	n/a
39	chr5:147651477-147651527	GM06990	blood:	n/a
40	chr5:147651477-147651527	MCF-7	breast:	n/a
41	chr5:147651477-147651527	HEK293	kidney:	embryo
42	chr5:147651477-147651527	HAEpiC	amniotic membrane:	n/a
43	chr5:147651477-147651527	NT2-D1	testis:	n/a
44	chr5:147651477-147651527	NHBE	bronchial:	n/a
45	chr5:147651477-147651527	PANC-1	pancreas:	n/a
46	chr5:147651477-147651527	H1-hESC	embryonic stem cell:	embryo
47	chr5:147651477-147651527	ECC-1	luminal epithelium:	n/a
48	chr5:147651477-147651527	HUVEC	blood vessel:	n/a
49	chr5:147651477-147651527	HPAEpiC	pulmonary alveolar:	n/a
50	chr5:147651477-147651527	HCF	heart:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:147670158..147670766-chr5:147685960..147686677,4	MCF-7	breast:
2	chr5:147661571..147663967-chr5:147664133..147665761,2	MCF-7	breast:
3	chr5:147670158..147670766-chr5:147685960..147686677,4	MCF-7	breast:
4	chr5:147669945..147670857-chr5:147754107..147754786,2	MCF-7	breast:
5	chr5:147662505..147664775-chr5:147666818..147669638,2	K562	blood:
6	chr5:147677028..147678682-chr5:147715476..147717665,2	K562	blood:
7	chr5:147575500..147576422-chr5:147685184..147686083,4	MCF-7	breast:
8	chr5:147662505..147664775-chr5:147666818..147669638,2	K562	blood:
9	chr5:147677424..147679473-chr5:147682301..147684884,2	K562	blood:
10	chr5:147640461..147641294-chr5:147685206..147686032,5	MCF-7	breast:
11	chr5:147660137..147662912-chr5:147668622..147670237,2	MCF-7	breast:
12	chr5:147677196..147678915-chr5:147687992..147690676,2	K562	blood:
13	chr5:147639756..147640340-chr5:147685294..147686119,2	MCF-7	breast:
14	chr5:147575500..147576238-chr5:147685562..147686083,2	MCF-7	breast:
15	chr5:147677424..147679473-chr5:147682301..147684884,2	K562	blood:
16	chr5:147687739..147689963-chr5:147691402..147694032,2	K562	blood:
17	chr5:147660137..147662912-chr5:147668622..147670237,2	MCF-7	breast:
18	chr5:147677196..147678915-chr5:147687992..147690676,2	K562	blood:
19	chr5:147683748..147686752-chr5:147688766..147691110,3	MCF-7	breast:
20	chr5:147685104..147686094-chr5:147777956..147778480,2	MCF-7	breast:
21	chr5:147661571..147663967-chr5:147664133..147665761,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPINK7-2	chr5:147686861-147686897	NONHSAT104442
2	lnc-HTR4-1	chr5:147687567-147687728	NR_105057
3	lnc-HTR4-1	chr5:147669815-147670558	ENSG00000247199
4	lnc-HTR4-1	chr5:147687567-147687728	ENSG00000247199
5	lnc-HTR4-1	chr5:147669815-147670558	NR_105057
6	lnc-SPINK7-2	chr5:147687278-147687821	NONHSAT104442

No data

Variant related genes	Relation type
SPINK7	TF binding region
PGBD4P3	TF binding region
SPINK7	CpG island
PGBD4P3	CpG island
ENSG00000145879	chromatin interactions
DLC1	miRNA target sites
EIF2C2	miRNA target sites

Extended variants
information (count: 1429 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1429 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17108103	chr5:147649181-147649182	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371032900	chr5:147649193-147649194	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547775592	chr5:147649273-147649274	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181756939	chr5:147649274-147649275	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541763666	chr5:147649352-147649353	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367672291	chr5:147649365-147649366	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553948628	chr5:147649385-147649386	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572167545	chr5:147649395-147649396	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11435083	chr5:147649398-147649399	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537672268	chr5:147649399-147649400	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568382771	chr5:147649404-147649405	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574314014	chr5:147649408-147649409	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546048424	chr5:147649412-147649413	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564257785	chr5:147649475-147649476	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531496848	chr5:147649480-147649481	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552465998	chr5:147649491-147649492	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561969193	chr5:147649500-147649501	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370523345	chr5:147649503-147649504	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56306866	chr5:147649509-147649510	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186617788	chr5:147649520-147649521	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547763255	chr5:147649539-147649540	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2304030	chr5:147649568-147649569	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371318128	chr5:147649600-147649601	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565884765	chr5:147649663-147649664	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374700128	chr5:147649687-147649688	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551596701	chr5:147649715-147649716	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367700417	chr5:147649769-147649770	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569932396	chr5:147649800-147649801	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144324658	chr5:147649846-147649847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76003353	chr5:147649900-147649901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567938079	chr5:147649903-147649904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148329765	chr5:147649904-147649905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553780812	chr5:147649919-147649920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141454807	chr5:147649976-147649977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539552925	chr5:147650009-147650010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531973377	chr5:147650038-147650039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377681973	chr5:147650040-147650041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147458759	chr5:147650047-147650048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576159004	chr5:147650058-147650059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543561389	chr5:147650135-147650136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561876188	chr5:147650270-147650271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573878905	chr5:147650276-147650277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566230149	chr5:147650294-147650295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541057156	chr5:147650300-147650301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139829370	chr5:147650302-147650303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191976377	chr5:147650311-147650312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551481997	chr5:147650346-147650347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563395942	chr5:147650348-147650349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6891158	chr5:147650350-147650351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs182793645	chr5:147650365-147650366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147647400-147650600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:147648400-147660200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:147648600-147649800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:147648600-147661400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:147658000-147658200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr5:147658200-147659800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:147658800-147663200	Weak transcription	Hela-S3	cervix
8	chr5:147659800-147660000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr5:147659800-147661200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:147660000-147660200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:147660000-147660200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:147660000-147661200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:147660000-147661200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:147660200-147660400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr5:147660200-147660400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr5:147660200-147660400	Enhancers	Gastric	stomach
17	chr5:147660200-147661200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:147660200-147661200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:147660200-147661600	Enhancers	Stomach Mucosa	stomach
20	chr5:147660200-147669400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:147660400-147660800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr5:147660400-147661000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:147660400-147661200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:147660600-147661200	Enhancers	Lung	lung
25	chr5:147660600-147661600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:147660800-147661000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr5:147660800-147661200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:147660800-147661200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:147661000-147661200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:147661000-147661200	Enhancers	Gastric	stomach
31	chr5:147661200-147664800	Weak transcription	Right Ventricle	heart
32	chr5:147661400-147668200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:147661600-147666200	Weak transcription	Stomach Mucosa	stomach
34	chr5:147661600-147670400	Weak transcription	Brain Hippocampus Middle	brain
35	chr5:147661600-147670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:147662600-147662800	Enhancers	Ovary	ovary
37	chr5:147662800-147663000	ZNF genes & repeats	Aorta	Aorta
38	chr5:147662800-147664600	Weak transcription	Ovary	ovary
39	chr5:147663000-147667600	Weak transcription	Aorta	Aorta
40	chr5:147664600-147664800	Enhancers	Ovary	ovary
41	chr5:147666200-147666800	Enhancers	Stomach Mucosa	stomach
42	chr5:147666800-147669800	Weak transcription	Stomach Mucosa	stomach
43	chr5:147666800-147670000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr5:147667000-147669400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr5:147667600-147667800	ZNF genes & repeats	Aorta	Aorta
46	chr5:147669800-147670600	Enhancers	Stomach Mucosa	stomach
47	chr5:147670000-147670200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr5:147670000-147670600	Enhancers	Brain Cingulate Gyrus	brain
49	chr5:147670200-147671200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:147670400-147671200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links