Variant report

Variant	nsv1036698
Chromosome Location	chr11:48191905-48342923
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	ARID3A	chr11:48194471-48194702	HepG2	liver:	n/a	n/a
2	ATF1	chr11:48292484-48292679	K562	blood:	n/a	n/a
3	ATF3	chr11:48194364-48194613	K562	blood:	n/a	n/a
4	ATF3	chr11:48194480-48194676	K562	blood:	n/a	n/a
5	BHLHE40	chr11:48194470-48194703	GM12878	blood:	n/a	n/a
6	BRCA1	chr11:48235490-48235559	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr11:48194532-48194633	GM12878	blood:	n/a	n/a
8	BRCA1	chr11:48194475-48194742	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr11:48329323-48329679	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr11:48329320-48329744	HCT-116	colon:	n/a	n/a
11	CEBPB	chr11:48194408-48194759	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr11:48232372-48232647	Hela-S3	cervix:	n/a	chr11:48232504-48232515
13	CEBPB	chr11:48332469-48332671	HepG2	liver:	n/a	chr11:48332598-48332609
14	CEBPB	chr11:48232368-48232629	A549	lung:	n/a	chr11:48232504-48232515
15	CEBPB	chr11:48232376-48232660	HepG2	liver:	n/a	chr11:48232504-48232515
16	CEBPB	chr11:48232346-48232660	IMR90	lung:	n/a	chr11:48232504-48232515
17	CEBPB	chr11:48232351-48232666	K562	blood:	n/a	chr11:48232504-48232515
18	CEBPB	chr11:48340990-48341301	A549	lung:	n/a	n/a
19	CHD1	chr11:48194544-48194553	GM12878	blood:	n/a	n/a
20	CHD2	chr11:48199898-48199928	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr11:48194572-48194700	HepG2	liver:	n/a	n/a
22	CHD2	chr11:48212930-48213130	K562	blood:	n/a	n/a
23	CREB1	chr11:48194478-48194746	A549	lung:	n/a	n/a
24	CTCF	chr11:48194500-48194650	Caco-2	colon:	n/a	chr11:48194577-48194585 chr11:48194574-48194595 chr11:48194572-48194590 chr11:48194575-48194588 chr11:48194573-48194589
25	CTCF	chr11:48329383-48329628	GM13976	blood:	n/a	chr11:48329513-48329526 chr11:48329511-48329527 chr11:48329510-48329528 chr11:48329512-48329533
26	CTCF	chr11:48297227-48297276	LNCaP	prostate:	n/a	n/a
27	CTCF	chr11:48206062-48206304	MCF-7	breast:	n/a	chr11:48206171-48206192
28	CTCF	chr11:48194500-48194650	GM12871	blood:	n/a	chr11:48194577-48194585 chr11:48194574-48194595 chr11:48194572-48194590 chr11:48194575-48194588 chr11:48194573-48194589
29	CTCF	chr11:48231540-48232089	MCF-7	breast:	n/a	n/a
30	CTCF	chr11:48231700-48231850	HL-60	blood:	n/a	n/a
31	CTCF	chr11:48206140-48206290	HepG2	liver:	n/a	chr11:48206171-48206192
32	CTCF	chr11:48231720-48231870	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr11:48329440-48329590	AG09319	gingival:	n/a	chr11:48329513-48329526 chr11:48329511-48329527 chr11:48329510-48329528 chr11:48329512-48329533
34	CTCF	chr11:48329480-48329630	GM12872	blood:	n/a	chr11:48329513-48329526 chr11:48329511-48329527 chr11:48329510-48329528 chr11:48329512-48329533
35	CTCF	chr11:48329460-48329610	HUVEC	blood vessel:	n/a	chr11:48329513-48329526 chr11:48329511-48329527 chr11:48329510-48329528 chr11:48329512-48329533
36	CTCF	chr11:48231760-48231910	AG10803	skin:	n/a	n/a
37	CTCF	chr11:48329340-48329490	A549	lung:	n/a	n/a
38	CTCF	chr11:48329279-48329719	IMR90	lung:	n/a	chr11:48329513-48329526 chr11:48329511-48329527 chr11:48329510-48329528 chr11:48329512-48329533
39	CTCF	chr11:48231699-48231908	Fibrobl	skin:	n/a	n/a
40	CTCF	chr11:48329120-48329270	AoAF	blood vessel:	n/a	n/a
41	CTCF	chr11:48329460-48329610	AG04450	lung:	n/a	chr11:48329513-48329526 chr11:48329511-48329527 chr11:48329510-48329528 chr11:48329512-48329533
42	CTCF	chr11:48194361-48194801	GM12878	blood:	n/a	chr11:48194577-48194585 chr11:48194574-48194595 chr11:48194572-48194590 chr11:48194723-48194736 chr11:48194575-48194588 chr11:48194573-48194589
43	CTCF	chr11:48329440-48329590	GM06990	blood:	n/a	chr11:48329513-48329526 chr11:48329511-48329527 chr11:48329510-48329528 chr11:48329512-48329533
44	CTCF	chr11:48194520-48194670	Caco-2	colon:	n/a	chr11:48194577-48194585 chr11:48194574-48194595 chr11:48194572-48194590 chr11:48194575-48194588 chr11:48194573-48194589
45	CTCF	chr11:48231680-48231830	HepG2	liver:	n/a	n/a
46	CTCF	chr11:48194480-48194630	HUVEC	blood vessel:	n/a	chr11:48194577-48194585 chr11:48194574-48194595 chr11:48194572-48194590 chr11:48194575-48194588 chr11:48194573-48194589
47	CTCF	chr11:48231707-48231908	ProgFib	skin:	n/a	n/a
48	CTCF	chr11:48231700-48231850	GM12871	blood:	n/a	n/a
49	CTCF	chr11:48194520-48194670	AG09319	gingival:	n/a	chr11:48194577-48194585 chr11:48194574-48194595 chr11:48194572-48194590 chr11:48194575-48194588 chr11:48194573-48194589
50	CTCF	chr11:48194500-48194650	NHLF	lung:	n/a	chr11:48194577-48194585 chr11:48194574-48194595 chr11:48194572-48194590 chr11:48194575-48194588 chr11:48194573-48194589

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48327164-48327214	LNCaP	prostate:	n/a
2	chr11:48327164-48327214	LNCaP	prostate:	n/a
3	chr11:48237353-48237403	ECC-1	luminal epithelium:	n/a
4	chr11:48266856-48266906	SAEC	small airway:	n/a
5	chr11:48238724-48238774	AoSMC	blood vessel:	n/a
6	chr11:48266856-48266906	BJ	skin:	n/a
7	chr11:48237358-48237408	NB4	blood:	n/a
8	chr11:48284249-48284299	HPAEpiC	pulmonary alveolar:	n/a
9	chr11:48328132-48328182	GM19239	blood:	n/a
10	chr11:48326388-48326438	MCF10A-Er-Src	breast:	n/a
11	chr11:48328132-48328182	HL-60	blood:	n/a
12	chr11:48284249-48284299	GM06990	blood:	n/a
13	chr11:48327164-48327214	GM12878	blood:	n/a
14	chr11:48284249-48284299	HL-60	blood:	n/a
15	chr11:48238724-48238774	T-47D	breast:	n/a
16	chr11:48238296-48238346	HCPEpiC	choroid plexus:	n/a
17	chr11:48237358-48237408	ovcar-3	ovarian:	n/a
18	chr11:48237353-48237403	HUVEC	blood vessel:	n/a
19	chr11:48284249-48284299	AoSMC	blood vessel:	n/a
20	chr11:48238296-48238346	AG04450	lung:	fetal
21	chr11:48285200-48285250	Hela-S3	cervix:	n/a
22	chr11:48284249-48284299	NT2-D1	testis:	n/a
23	chr11:48238724-48238774	SK-N-SH	brain:	n/a
24	chr11:48238724-48238774	HEK293	kidney:	embryo
25	chr11:48238724-48238774	NHDF-neo	bronchial:	n/a
26	chr11:48238724-48238774	NB4	blood:	n/a
27	chr11:48327164-48327214	AG09309	skin:	n/a
28	chr11:48284249-48284299	HAEpiC	amniotic membrane:	n/a
29	chr11:48237358-48237408	BE2_C	brain:	n/a
30	chr11:48237353-48237403	ovcar-3	ovarian:	n/a
31	chr11:48327164-48327214	HCT-116	colon:	n/a
32	chr11:48285200-48285250	GM06990	blood:	n/a
33	chr11:48285821-48285871	PrEC	prostate:	n/a
34	chr11:48237358-48237408	PANC-1	pancreas:	n/a
35	chr11:48328132-48328182	PANC-1	pancreas:	n/a
36	chr11:48327164-48327214	SK-N-MC	brain:	n/a
37	chr11:48237353-48237403	HepG2	liver:	n/a
38	chr11:48327164-48327214	HIPEpiC	eye:	n/a
39	chr11:48284249-48284299	U87	brain:	n/a
40	chr11:48238724-48238774	HCF	heart:	n/a
41	chr11:48326388-48326438	CMK	blood:	n/a
42	chr11:48285200-48285250	HRCEpiC	kidney:	n/a
43	chr11:48327164-48327214	ECC-1	luminal epithelium:	n/a
44	chr11:48237358-48237408	GM19239	blood:	n/a
45	chr11:48326388-48326438	ovcar-3	ovarian:	n/a
46	chr11:48285821-48285871	ECC-1	luminal epithelium:	n/a
47	chr11:48327164-48327214	SK-N-SH	brain:	n/a
48	chr11:48284249-48284299	NH-A	brain:	n/a
49	chr11:48328132-48328182	HUVEC	blood vessel:	n/a
50	chr11:48285821-48285871	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:48234220..48234962-chr11:48329425..48329937,2	MCF-7	breast:
2	chr11:48205861..48206473-chr11:48233802..48234494,2	MCF-7	breast:
3	chr11:48234220..48234962-chr11:48329425..48329937,2	MCF-7	breast:
4	chr11:48193798..48195313-chr11:48231364..48232253,10	MCF-7	breast:
5	chr11:48194137..48195015-chr11:48231499..48232341,4	MCF-7	breast:
6	chr11:48205381..48206618-chr11:48231139..48232409,4	MCF-7	breast:
7	chr11:48292794..48294613-chr11:48297509..48299435,2	K562	blood:
8	chr11:48292794..48294613-chr11:48297509..48299435,2	K562	blood:
9	chr11:48194206..48195039-chr11:49190936..49191807,2	MCF-7	breast:
10	chr11:48205861..48206473-chr11:48233802..48234494,2	MCF-7	breast:
11	chr11:48194137..48195015-chr11:48231499..48232341,4	MCF-7	breast:
12	chr11:48193798..48195313-chr11:48231364..48232253,10	MCF-7	breast:
13	chr11:48205381..48206618-chr11:48231139..48232409,4	MCF-7	breast:

Variant related genes	Relation type
OR4X2	TF binding region
OR4B2P	TF binding region
OR4X1	TF binding region
OR4C3	TF binding region
OR4S1	TF binding region
OR4B1	TF binding region
OR4X2	CpG island
OR4B2P	CpG island
OR4X1	CpG island
OR4C3	CpG island
OR4S1	CpG island
OR4B1	CpG island

Extended variants
information (count: 1650 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1650 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534834791	chr11:48191919-48191920	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371522200	chr11:48191961-48191962	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370303688	chr11:48191975-48191976	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11039557	chr11:48192071-48192072	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577570979	chr11:48192079-48192080	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144873490	chr11:48192127-48192128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556151754	chr11:48192130-48192131	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576320498	chr11:48192139-48192140	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191795418	chr11:48192272-48192273	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs199522084	chr11:48192308-48192309	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs71045552	chr11:48192321-48192322	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs77081185	chr11:48192322-48192323	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs541637197	chr11:48192334-48192335	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs372120191	chr11:48192433-48192434	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs181896684	chr11:48192485-48192486	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs541079849	chr11:48192508-48192509	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564190472	chr11:48192509-48192510	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs532920219	chr11:48192524-48192525	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs116355585	chr11:48192553-48192554	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs563804541	chr11:48192556-48192557	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568756775	chr11:48192559-48192560	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs148643217	chr11:48192588-48192589	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs72905535	chr11:48192615-48192616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs369413363	chr11:48192651-48192652	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs534894381	chr11:48192673-48192674	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs377006370	chr11:48192675-48192676	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs142235759	chr11:48192685-48192686	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs187278312	chr11:48192692-48192693	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs151214689	chr11:48192697-48192698	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs192071506	chr11:48192701-48192702	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs10742838	chr11:48192717-48192718	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs376198498	chr11:48192729-48192730	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs557353996	chr11:48192769-48192770	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs576254815	chr11:48192779-48192780	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs535699187	chr11:48192781-48192782	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs542588628	chr11:48192851-48192852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs36105288	chr11:48192856-48192857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61915959	chr11:48192870-48192871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4752913	chr11:48192881-48192882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572241633	chr11:48193010-48193011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541243291	chr11:48193014-48193015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557867592	chr11:48193031-48193032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577839267	chr11:48193058-48193059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11039559	chr11:48193071-48193072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563339053	chr11:48193089-48193090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571720812	chr11:48193144-48193145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528892641	chr11:48193161-48193162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560003408	chr11:48193169-48193170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536141443	chr11:48193197-48193198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182093901	chr11:48193221-48193222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD

Chromatin state (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48138200-48192600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:48163400-48192400	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:48175400-48192400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:48176000-48194600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:48176200-48192000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:48179200-48193200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:48179400-48192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:48185000-48192000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:48185600-48192600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:48185800-48192400	Weak transcription	Fetal Brain Female	brain
11	chr11:48186000-48192800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:48186000-48194800	Weak transcription	Fetal Brain Male	brain
13	chr11:48186400-48192600	Weak transcription	Aorta	Aorta
14	chr11:48186800-48194800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:48187000-48192400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:48187200-48192000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:48187200-48194400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:48187200-48194600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:48187600-48194800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:48188400-48193400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:48188400-48193800	Enhancers	NHDF-Ad	bronchial
22	chr11:48188400-48193800	Enhancers	Osteobl	bone
23	chr11:48189000-48192200	Weak transcription	Primary T cells from cord blood	blood
24	chr11:48189000-48192400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr11:48189000-48193800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:48189000-48194200	Weak transcription	Gastric	stomach
27	chr11:48189200-48194600	Weak transcription	Pancreas	Pancrea
28	chr11:48189400-48194600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:48189800-48192400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:48190200-48192000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:48190400-48192000	Enhancers	Right Atrium	heart
32	chr11:48190400-48192200	Enhancers	Fetal Muscle Trunk	muscle
33	chr11:48190600-48192200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:48190600-48192200	Enhancers	Brain Angular Gyrus	brain
35	chr11:48190600-48192200	Genic enhancers	A549	lung
36	chr11:48190800-48192000	Enhancers	Left Ventricle	heart
37	chr11:48190800-48192200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:48190800-48192400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:48190800-48192600	Weak transcription	Liver	Liver
40	chr11:48190800-48192600	Enhancers	HSMMtube	muscle
41	chr11:48190800-48192800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr11:48190800-48193400	Enhancers	Fetal Muscle Leg	muscle
43	chr11:48190800-48193800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:48191000-48192200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr11:48191000-48192200	Enhancers	Fetal Kidney	kidney
46	chr11:48191000-48192200	Enhancers	HSMM	muscle
47	chr11:48191000-48192600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr11:48191000-48192800	Enhancers	Brain Anterior Caudate	brain
49	chr11:48191000-48192800	Enhancers	Brain Cingulate Gyrus	brain
50	chr11:48191000-48192800	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links