Variant report

Variant	nsv975487
Chromosome Location	chr12:50610917-50612217
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:50611090-50611189	K562	blood:	n/a	chr12:50611160-50611168
2	EP300	chr12:50612200-50612493	Hela-S3	cervix:	n/a	n/a
3	EP300	chr12:50611989-50612525	A549	lung:	n/a	n/a
4	FOS	chr12:50611077-50611185	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr12:50612174-50612565	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:50612127-50612552	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr12:50612178-50612596	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:50612194-50612508	MCF10A-Er-Src	breast:	n/a	n/a
9	FOSL1	chr12:50612084-50612676	HCT-116	colon:	n/a	n/a
10	FOSL1	chr12:50612015-50612862	HCT-116	colon:	n/a	n/a
11	FOSL2	chr12:50612085-50612578	A549	lung:	n/a	n/a
12	FOSL2	chr12:50612204-50612477	A549	lung:	n/a	n/a
13	FOXA2	chr12:50611996-50612501	A549	lung:	n/a	n/a
14	FOXA2	chr12:50612059-50612610	A549	lung:	n/a	n/a
15	GTF2F1	chr12:50612178-50612512	Hela-S3	cervix:	n/a	n/a
16	JUN	chr12:50612169-50612570	Hela-S3	cervix:	n/a	n/a
17	JUND	chr12:50612191-50612541	Hela-S3	cervix:	n/a	n/a
18	JUND	chr12:50612141-50612519	A549	lung:	n/a	n/a
19	JUND	chr12:50612067-50612707	HCT-116	colon:	n/a	n/a
20	JUND	chr12:50612020-50612727	HCT-116	colon:	n/a	n/a
21	MAX	chr12:50612088-50612711	HCT-116	colon:	n/a	n/a
22	MAX	chr12:50612033-50612637	A549	lung:	n/a	n/a
23	MAX	chr12:50612031-50613079	HCT-116	colon:	n/a	n/a
24	MYC	chr12:50612184-50612487	MCF10A-Er-Src	breast:	n/a	n/a
25	NR3C1	chr12:50612172-50612476	A549	lung:	n/a	n/a
26	NR3C1	chr12:50612159-50612433	A549	lung:	n/a	n/a
27	POLR2A	chr12:50611394-50611686	ProgFib	skin:	n/a	n/a
28	POLR2A	chr12:50611930-50612142	K562	blood:	n/a	n/a
29	POLR2A	chr12:50611417-50611652	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr12:50612136-50612588	HCT-116	colon:	n/a	n/a
31	POLR2A	chr12:50612152-50612526	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr12:50612178-50612425	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr12:50610213-50611717	K562	blood:	n/a	n/a
34	POLR2A	chr12:50609830-50611657	K562	blood:	n/a	n/a
35	POLR2A	chr12:50611970-50612117	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr12:50612155-50612495	K562	blood:	n/a	n/a
37	RCOR1	chr12:50612210-50612481	Hela-S3	cervix:	n/a	n/a
38	SIN3AK20	chr12:50612037-50612614	HCT-116	colon:	n/a	n/a
39	SP1	chr12:50612047-50612629	A549	lung:	n/a	n/a
40	SP1	chr12:50611989-50612753	HCT-116	colon:	n/a	n/a
41	SP1	chr12:50612130-50612723	HCT-116	colon:	n/a	n/a
42	STAT3	chr12:50612215-50612536	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr12:50612187-50612523	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr12:50612192-50612549	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr12:50612132-50612316	MCF10A-Er-Src	breast:	n/a	n/a
46	TCF7L2	chr12:50611081-50611419	PANC-1	pancreas:	n/a	chr12:50611261-50611270 chr12:50611261-50611268 chr12:50611230-50611240
47	WRNIP1	chr12:50612171-50612363	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50611193..50613806-chr12:50616062..50618522,3	K562	blood:
2	chr12:50611453..50613308-chr12:50792675..50795177,2	K562	blood:
3	chr12:50611760..50615008-chr12:50615147..50618243,5	MCF-7	breast:
4	chr12:50612057..50616588-chr12:50616735..50619930,4	MCF-7	breast:
5	chr12:50583119..50586019-chr12:50610359..50613018,3	K562	blood:
6	chr12:50608910..50611527-chr12:50617767..50619869,3	MCF-7	breast:
7	chr12:50583595..50586516-chr12:50609733..50613018,3	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CERS5-2	chr12:50611445-50611655	NONHSAT028185
2	lnc-CERS5-2	chr12:50611708-50613166	ENSG00000251589
3	lnc-CERS5-2	chr12:50611984-50612126	NONHSAT028185

No data

Variant related genes	Relation type
ENSG00000257531	TF binding region
ENSG00000257256	TF binding region
ENSG00000050405	chromatin interactions
ENSG00000161813	chromatin interactions
ENSG00000257298	chromatin interactions
TMEM30A	miRNA target sites

Extended variants
information (count: 55 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551823753	chr12:50610918-50610919	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs192757317	chr12:50610933-50610934	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs537411693	chr12:50610946-50610947	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs557395842	chr12:50610974-50610975	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs11169322	chr12:50610976-50610977	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs551671285	chr12:50611009-50611010	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs8181679	chr12:50611020-50611021	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs182359884	chr12:50611105-50611106	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs73301460	chr12:50611146-50611147	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs367800096	chr12:50611208-50611209	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs545296877	chr12:50611231-50611232	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs76180466	chr12:50611289-50611290	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs200350018	chr12:50611290-50611291	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs187204526	chr12:50611296-50611297	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs575247281	chr12:50611310-50611311	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs10747572	chr12:50611311-50611312	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12308745	chr12:50611343-50611344	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191753949	chr12:50611373-50611374	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs375557605	chr12:50611396-50611397	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs546466129	chr12:50611397-50611398	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs560208792	chr12:50611434-50611435	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs532299413	chr12:50611459-50611460	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs541798332	chr12:50611471-50611472	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs12424691	chr12:50611477-50611478	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs375331167	chr12:50611490-50611491	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs537147793	chr12:50611492-50611493	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
27	rs551137934	chr12:50611494-50611495	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs184716731	chr12:50611533-50611534	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs12424713	chr12:50611617-50611618	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs376039541	chr12:50611641-50611642	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs376093398	chr12:50611687-50611688	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs373994454	chr12:50611688-50611689	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs34408114	chr12:50611689-50611690	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs397850535	chr12:50611707-50611708	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs369346512	chr12:50611773-50611774	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs553678485	chr12:50611788-50611789	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs565031499	chr12:50611814-50611815	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs9668955	chr12:50611833-50611834	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs188995000	chr12:50611836-50611837	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs377364116	chr12:50611849-50611850	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs368997145	chr12:50611850-50611851	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs193136737	chr12:50611870-50611871	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs543886541	chr12:50611901-50611902	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs560677294	chr12:50611934-50611935	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs574065712	chr12:50611935-50611936	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs185759870	chr12:50611940-50611941	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs547726839	chr12:50611968-50611969	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs560354975	chr12:50611975-50611976	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs536116635	chr12:50611979-50611980	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs374430816	chr12:50612008-50612009	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50571800-50614200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:50572200-50614000	Weak transcription	Right Ventricle	heart
3	chr12:50582800-50614000	Weak transcription	Brain Angular Gyrus	brain
4	chr12:50582800-50614200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:50583000-50614400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:50591600-50615600	Weak transcription	HepG2	liver
7	chr12:50593400-50614200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:50593400-50614200	Weak transcription	Fetal Brain Male	brain
9	chr12:50593400-50614600	Weak transcription	Esophagus	oesophagus
10	chr12:50596200-50613400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:50596800-50614000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:50598400-50611400	Weak transcription	Spleen	Spleen
13	chr12:50598400-50613400	Weak transcription	K562	blood
14	chr12:50598600-50612400	Weak transcription	Psoas Muscle	Psoas
15	chr12:50598600-50613400	Weak transcription	Aorta	Aorta
16	chr12:50598600-50613400	Weak transcription	Fetal Kidney	kidney
17	chr12:50598600-50614000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:50598600-50614000	Weak transcription	Brain Germinal Matrix	brain
19	chr12:50599000-50612000	Weak transcription	Gastric	stomach
20	chr12:50599000-50614200	Weak transcription	Fetal Brain Female	brain
21	chr12:50599200-50614200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:50599400-50614000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:50599400-50615000	Weak transcription	Liver	Liver
24	chr12:50599600-50613400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:50599600-50613400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:50599600-50614000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:50599600-50614000	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:50599600-50614000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr12:50599800-50612400	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:50599800-50613400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:50599800-50613600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:50599800-50614000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:50599800-50614000	Weak transcription	Left Ventricle	heart
34	chr12:50599800-50614600	Weak transcription	Ovary	ovary
35	chr12:50599800-50635800	Weak transcription	Pancreas	Pancrea
36	chr12:50600000-50613400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:50600000-50613600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:50600000-50615800	Weak transcription	Lung	lung
39	chr12:50600200-50611200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:50600200-50613400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:50600200-50614000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:50600200-50614200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:50600600-50614000	Weak transcription	Colonic Mucosa	Colon
44	chr12:50603000-50611000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:50603200-50611400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:50603200-50612200	Weak transcription	Right Atrium	heart
47	chr12:50605600-50614200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:50605800-50614400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr12:50606200-50611400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:50606200-50612000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links