Variant report

Variant	nsv1048554
Chromosome Location	chr11:48062861-48388686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3297)
CpG islands
(count:1834)
Chromatin interactive
region (count:142)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:8)

(count:3297 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:48130891-48131217	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:48095041-48095124	K562	blood:	n/a	n/a
3	ARID3A	chr11:48082899-48083240	K562	blood:	n/a	n/a
4	ARID3A	chr11:48123329-48123998	HepG2	liver:	n/a	n/a
5	ARID3A	chr11:48194471-48194702	HepG2	liver:	n/a	n/a
6	ARID3A	chr11:48130883-48131832	K562	blood:	n/a	n/a
7	ARID3A	chr11:48131445-48131835	HepG2	liver:	n/a	n/a
8	ARID3A	chr11:48118839-48119112	HepG2	liver:	n/a	n/a
9	ARID3A	chr11:48114969-48116284	HepG2	liver:	n/a	n/a
10	ATF1	chr11:48356437-48356637	K562	blood:	n/a	n/a
11	ATF1	chr11:48082834-48083315	K562	blood:	n/a	n/a
12	ATF1	chr11:48292484-48292679	K562	blood:	n/a	n/a
13	ATF1	chr11:48077433-48077920	K562	blood:	n/a	n/a
14	ATF2	chr11:48077237-48077812	GM12878	blood:	n/a	n/a
15	ATF2	chr11:48094862-48095450	GM12878	blood:	n/a	n/a
16	ATF2	chr11:48131384-48131873	GM12878	blood:	n/a	n/a
17	ATF2	chr11:48131303-48131862	GM12878	blood:	n/a	n/a
18	ATF2	chr11:48128530-48129047	GM12878	blood:	n/a	n/a
19	ATF2	chr11:48125780-48126273	GM12878	blood:	n/a	n/a
20	ATF2	chr11:48128499-48129217	GM12878	blood:	n/a	n/a
21	ATF2	chr11:48085000-48085533	GM12878	blood:	n/a	n/a
22	ATF2	chr11:48073780-48074198	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr11:48125767-48126273	GM12878	blood:	n/a	n/a
24	ATF3	chr11:48082760-48083237	K562	blood:	n/a	n/a
25	ATF3	chr11:48194364-48194613	K562	blood:	n/a	n/a
26	ATF3	chr11:48082790-48083256	K562	blood:	n/a	n/a
27	ATF3	chr11:48194480-48194676	K562	blood:	n/a	n/a
28	BACH1	chr11:48356973-48356986	K562	blood:	n/a	n/a
29	BACH1	chr11:48119683-48119696	K562	blood:	n/a	n/a
30	BACH1	chr11:48082870-48083255	K562	blood:	n/a	n/a
31	BACH1	chr11:48110331-48110562	H1-hESC	embryonic stem cell:	n/a	n/a
32	BATF	chr11:48128651-48129130	GM12878	blood:	n/a	n/a
33	BATF	chr11:48131359-48131717	GM12878	blood:	n/a	n/a
34	BATF	chr11:48131437-48131740	GM12878	blood:	n/a	n/a
35	BATF	chr11:48069274-48069666	GM12878	blood:	n/a	n/a
36	BATF	chr11:48094903-48095273	GM12878	blood:	n/a	n/a
37	BATF	chr11:48128657-48129110	GM12878	blood:	n/a	n/a
38	BATF	chr11:48085096-48085328	GM12878	blood:	n/a	n/a
39	BATF	chr11:48115348-48115634	GM12878	blood:	n/a	n/a
40	BATF	chr11:48077422-48077763	GM12878	blood:	n/a	n/a
41	BCL11A	chr11:48128623-48129135	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
42	BCL11A	chr11:48115355-48115560	GM12878	blood:	n/a	n/a
43	BCL11A	chr11:48128709-48129015	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
44	BCL11A	chr11:48131334-48131777	GM12878	blood:	n/a	n/a
45	BCL11A	chr11:48073903-48074078	H1-hESC	embryonic stem cell:	n/a	n/a
46	BCL3	chr11:48115343-48115664	GM12878	blood:	n/a	n/a
47	BCL3	chr11:48084843-48085553	A549	lung:	n/a	n/a
48	BCL3	chr11:48128638-48129194	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
49	BCL3	chr11:48128713-48129121	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
50	BCLAF1	chr11:48064815-48065715	GM12878	blood:	n/a	n/a

(count:1834 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48266856-48266906	K562	blood:	n/a
2	chr11:48161380-48161430	GM12892	blood:	n/a
3	chr11:48065851-48065901	K562	blood:	n/a
4	chr11:48326388-48326438	SK-N-SH	brain:	n/a
5	chr11:48266856-48266906	K562	blood:	n/a
6	chr11:48161380-48161430	GM12892	blood:	n/a
7	chr11:48065851-48065901	K562	blood:	n/a
8	chr11:48326388-48326438	SK-N-SH	brain:	n/a
9	chr11:48327164-48327214	HPAEpiC	pulmonary alveolar:	n/a
10	chr11:48284249-48284299	SKMC	muscle:	n/a
11	chr11:48285200-48285250	HMEC	breast:	n/a
12	chr11:48112253-48112303	GM12892	blood:	n/a
13	chr11:48285821-48285871	NB4	blood:	n/a
14	chr11:48237353-48237403	HRE	kidney:	n/a
15	chr11:48327164-48327214	HEK293	kidney:	embryo
16	chr11:48237358-48237408	AG09309	skin:	n/a
17	chr11:48285821-48285871	HepG2	liver:	n/a
18	chr11:48345361-48345411	H1-hESC	embryonic stem cell:	embryo
19	chr11:48129067-48129117	LNCaP	prostate:	n/a
20	chr11:48161861-48161911	SKMC	muscle:	n/a
21	chr11:48238724-48238774	NHDF-neo	bronchial:	n/a
22	chr11:48238724-48238774	GM12891	blood:	n/a
23	chr11:48374446-48374496	NHBE	bronchial:	n/a
24	chr11:48327164-48327214	IMR90	lung:	fetal
25	chr11:48083100-48083150	PANC-1	pancreas:	n/a
26	chr11:48346680-48346730	HUVEC	blood vessel:	n/a
27	chr11:48129067-48129117	A549	lung:	n/a
28	chr11:48112253-48112303	HCM	heart:	n/a
29	chr11:48077221-48077271	GM19239	blood:	n/a
30	chr11:48191068-48191118	Caco-2	colon:	n/a
31	chr11:48285821-48285871	Caco-2	colon:	n/a
32	chr11:48285200-48285250	GM12891	blood:	n/a
33	chr11:48326388-48326438	BJ	skin:	n/a
34	chr11:48110045-48110095	BE2_C	brain:	n/a
35	chr11:48238724-48238774	PFSK-1	brain:	n/a
36	chr11:48118041-48118091	NH-A	brain:	n/a
37	chr11:48327164-48327214	HCF	heart:	n/a
38	chr11:48345361-48345411	MCF-7	breast:	n/a
39	chr11:48161861-48161911	SK-N-SH_RA	brain:	n/a
40	chr11:48065851-48065901	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:48077221-48077271	LNCaP	prostate:	n/a
42	chr11:48326388-48326438	Jurkat	blood:	n/a
43	chr11:48153832-48153882	ProgFib	skin:	n/a
44	chr11:48345361-48345411	AG04450	lung:	fetal
45	chr11:48085137-48085187	HMEC	breast:	n/a
46	chr11:48374446-48374496	HPAEpiC	pulmonary alveolar:	n/a
47	chr11:48266856-48266906	GM12878	blood:	n/a
48	chr11:48326388-48326438	GM19239	blood:	n/a
49	chr11:48326388-48326438	Hepatocyte	liver:	n/a
50	chr11:48238724-48238774	HCM	heart:	n/a

(count:142 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr11:48205381..48206618-chr11:48231139..48232409,4	MCF-7	breast:
2	chr11:48071477..48072173-chr11:48130347..48131089,2	MCF-7	breast:
3	chr11:48098800..48100999-chr11:48104120..48106582,2	MCF-7	breast:
4	chr11:48120614..48123449-chr11:48129423..48131714,2	MCF-7	breast:
5	chr11:48077913..48080280-chr11:48080886..48083753,2	K562	blood:
6	chr11:48194137..48195015-chr11:48231499..48232341,4	MCF-7	breast:
7	chr11:48072169..48075662-chr11:48075736..48079290,4	MCF-7	breast:
8	chr11:47956073..47956643-chr11:48155973..48156490,2	MCF-7	breast:
9	chr11:48077645..48080175-chr11:48086953..48089270,2	MCF-7	breast:
10	chr11:48131666..48133452-chr11:48135727..48137956,2	MCF-7	breast:
11	chr11:48112031..48113821-chr11:48114417..48116008,2	K562	blood:
12	chr11:48144846..48146446-chr11:48150418..48153152,2	K562	blood:
13	chr11:48086913..48088924-chr11:48093954..48095544,2	K562	blood:
14	chr11:48234220..48234962-chr11:48329425..48329937,2	MCF-7	breast:
15	chr11:48194206..48195039-chr11:49190936..49191807,2	MCF-7	breast:
16	chr11:48147029..48148645-chr11:48154007..48155529,2	MCF-7	breast:
17	chr11:47857319..47859657-chr11:48158646..48160993,2	K562	blood:
18	chr11:48086913..48088924-chr11:48093954..48095544,2	K562	blood:
19	chr11:47967425..47969925-chr11:48129768..48132712,2	MCF-7	breast:
20	chr11:48099180..48102059-chr11:48102708..48105162,2	K562	blood:
21	chr11:48093831..48096549-chr11:48096756..48099477,2	MCF-7	breast:
22	chr11:48162891..48165104-chr11:48166215..48167785,2	K562	blood:
23	chr11:48047876..48049953-chr11:48109269..48111434,2	MCF-7	breast:
24	chr11:48125100..48126917-chr11:48129444..48131504,2	MCF-7	breast:
25	chr11:48142980..48145287-chr11:48148448..48150580,3	MCF-7	breast:
26	chr11:48072810..48075370-chr11:48080373..48082997,2	K562	blood:
27	chr11:47967015..47968589-chr11:48075080..48077424,2	MCF-7	breast:
28	chr11:48024330..48026388-chr11:48082917..48084428,2	K562	blood:
29	chr11:48131666..48133452-chr11:48135727..48137956,2	MCF-7	breast:
30	chr11:48068334..48069860-chr11:48070016..48072544,2	MCF-7	breast:
31	chr11:48105031..48106761-chr11:48108023..48109885,2	MCF-7	breast:
32	chr11:48234220..48234962-chr11:48329425..48329937,2	MCF-7	breast:
33	chr11:48108133..48109846-chr11:48110400..48112858,3	MCF-7	breast:
34	chr11:48101649..48104254-chr11:48106713..48109745,3	MCF-7	breast:
35	chr11:47955523..47956710-chr11:48130209..48132188,17	MCF-7	breast:
36	chr11:48167809..48169447-chr6:82621853..82624317,2	MCF-7	breast:
37	chr11:48000629..48003536-chr11:48164616..48166215,2	K562	blood:
38	chr11:48120614..48123449-chr11:48129423..48131714,2	MCF-7	breast:
39	chr11:48081533..48083185-chr11:48091579..48093994,2	MCF-7	breast:
40	chr11:47879130..47879931-chr11:48131064..48131706,2	MCF-7	breast:
41	chr11:48071848..48074782-chr11:48077801..48079441,2	MCF-7	breast:
42	chr11:48092743..48095466-chr11:48097566..48099297,2	K562	blood:
43	chr11:48072741..48074310-chr11:48080242..48082997,2	K562	blood:
44	chr11:48147029..48148645-chr11:48154007..48155529,2	MCF-7	breast:
45	chr11:48081883..48084532-chr11:48088077..48090811,2	MCF-7	breast:
46	chr11:48069835..48071887-chr11:48083817..48085807,2	MCF-7	breast:
47	chr11:48193798..48195313-chr11:48231364..48232253,10	MCF-7	breast:
48	chr11:48001502..48002444-chr11:48131229..48132098,2	MCF-7	breast:
49	chr11:48087146..48090054-chr11:48094817..48096585,2	MCF-7	breast:
50	chr1:153895897..153896422-chr11:48153597..48154395,2	Hela-S3	cervix:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3161	chr11:48118343-48118365	MIMAT0015035

(count:8 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PTPRJ	hsa-miR-124-3p	chr11:48189418-48189438
2	PTPRJ	hsa-miR-328-3p	chr11:48191725-48191748
3	PTPRJ	hsa-miR-155-5p	chr11:48190351-48190373
4	PTPRJ	hsa-miR-124-3p	chr11:48189431-48189437
5	PTPRJ	hsa-miR-26b-5p	chr11:48190233-48190256
6	PTPRJ	hsa-miR-16-5p	chr11:48190236-48190242
7	PTPRJ	hsa-miR-155-5p	chr11:48190367-48190373
8	PTPRJ	hsa-miR-16-5p	chr11:48190225-48190243

Variant related genes	Relation type
MIR3161	TF binding region
OR4C5	TF binding region
OR4C4P	TF binding region
OR4X2	TF binding region
OR4B2P	TF binding region
OR4X1	TF binding region
PTPRJ	TF binding region
OR4C3	TF binding region
OR4S1	TF binding region
OR4B1	TF binding region
MIR3161	CpG island
OR4C5	CpG island
OR4C4P	CpG island
OR4X2	CpG island
OR4B2P	CpG island
OR4X1	CpG island
PTPRJ	CpG island
OR4C3	CpG island
OR4S1	CpG island
OR4B1	CpG island
ENSG00000254879	chromatin interactions
ENSG00000030066	chromatin interactions
ENSG00000197161	chromatin interactions
ENSG00000165923	chromatin interactions
ENSG00000149177	chromatin interactions

Extended variants
information (count: 9885 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:9885 , 50 per page) page: 1 2 3 4 5 6 7 ... 198

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192964225	chr11:48062868-48062869	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs114121807	chr11:48062876-48062877	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562343540	chr11:48062887-48062888	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531377840	chr11:48062896-48062897	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548122031	chr11:48062899-48062900	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs547973722	chr11:48062950-48062951	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs7129454	chr11:48063002-48063003	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs367949700	chr11:48063013-48063014	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs550044511	chr11:48063063-48063064	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149223134	chr11:48063131-48063132	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs145148523	chr11:48063139-48063140	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146796136	chr11:48063170-48063171	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185115889	chr11:48063202-48063203	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs533844656	chr11:48063236-48063237	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553884761	chr11:48063244-48063245	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs140496589	chr11:48063295-48063296	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs539505892	chr11:48063324-48063325	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs145735655	chr11:48063364-48063365	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs556782036	chr11:48063429-48063430	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs541813384	chr11:48063443-48063444	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs78304990	chr11:48063540-48063541	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs78571858	chr11:48063551-48063552	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150592572	chr11:48063554-48063555	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs555414493	chr11:48063713-48063714	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs376317259	chr11:48063755-48063756	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs572732567	chr11:48063789-48063790	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs541790660	chr11:48063837-48063838	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs78384372	chr11:48063859-48063860	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs533394307	chr11:48063879-48063880	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs369764106	chr11:48063906-48063907	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs190306996	chr11:48063943-48063944	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs79081801	chr11:48063948-48063949	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12281120	chr11:48064094-48064095	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539182945	chr11:48064096-48064097	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs192439735	chr11:48064183-48064184	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs138315285	chr11:48064194-48064195	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	disease
37	rs78507603	chr11:48064200-48064201	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs77602347	chr11:48064218-48064219	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs570604243	chr11:48064259-48064260	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs573082025	chr11:48064295-48064296	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs184935900	chr11:48064296-48064297	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs368623447	chr11:48064308-48064309	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs112899731	chr11:48064311-48064312	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs372586658	chr11:48064312-48064313	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs188129431	chr11:48064313-48064314	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs575258488	chr11:48064335-48064336	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs141868824	chr11:48064337-48064338	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs34943231	chr11:48064338-48064339	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs535549928	chr11:48064339-48064340	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs180846948	chr11:48064373-48064374	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Glioblastoma multiforme	21390271	CNVD
Acute lymphoblastic leukemia	20699438	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21990379	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:5443 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48047400-48073400	Weak transcription	HSMMtube	muscle
2	chr11:48047400-48073800	Weak transcription	Left Ventricle	heart
3	chr11:48050200-48068200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:48050800-48073000	Weak transcription	Esophagus	oesophagus
5	chr11:48051600-48071200	Weak transcription	Fetal Intestine Large	intestine
6	chr11:48051600-48073800	Weak transcription	Aorta	Aorta
7	chr11:48053600-48065400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:48053600-48065800	Weak transcription	Colonic Mucosa	Colon
9	chr11:48053800-48065200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:48053800-48073400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:48055600-48064800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:48055800-48063800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:48056800-48064000	Weak transcription	Stomach Mucosa	stomach
14	chr11:48056800-48064800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:48057000-48065200	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:48057000-48065200	Weak transcription	Placenta	Placenta
17	chr11:48057000-48065400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:48057000-48065600	Weak transcription	Right Atrium	heart
19	chr11:48057000-48065600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:48057000-48066000	Weak transcription	Psoas Muscle	Psoas
21	chr11:48057000-48069800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:48057600-48063600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:48057600-48064800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:48058000-48064200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:48058000-48064800	Weak transcription	Adipose Nuclei	Adipose
26	chr11:48058000-48064800	Weak transcription	Fetal Thymus	thymus
27	chr11:48058000-48068600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:48058000-48069600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:48058000-48073400	Weak transcription	K562	blood
30	chr11:48058200-48063600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:48058400-48063800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:48058400-48063800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr11:48058400-48063800	Weak transcription	NHLF	lung
34	chr11:48058400-48069600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:48058600-48063400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:48058600-48063400	Weak transcription	Osteobl	bone
37	chr11:48058600-48063800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:48058600-48064000	Weak transcription	Primary T cells from cord blood	blood
39	chr11:48058600-48064000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:48058600-48064200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr11:48058600-48064200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:48058600-48065800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:48058600-48068800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:48058600-48069600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:48058600-48072000	Weak transcription	Fetal Kidney	kidney
46	chr11:48058800-48064800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr11:48059000-48064200	Weak transcription	Fetal Stomach	stomach
48	chr11:48059600-48063800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:48059800-48066800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:48060000-48065000	Weak transcription	Spleen	Spleen

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