Variant report

Variant	nsv1052076
Chromosome Location	chr11:48077864-48702549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3298)
CpG islands
(count:1832)
Chromatin interactive
region (count:122)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:8)

(count:3298 , 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	chr11:48114969-48116284	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:48131445-48131835	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:48130883-48131832	K562	blood:	n/a	n/a
4	ARID3A	chr11:48123329-48123998	HepG2	liver:	n/a	n/a
5	ARID3A	chr11:48118839-48119112	HepG2	liver:	n/a	n/a
6	ARID3A	chr11:48194471-48194702	HepG2	liver:	n/a	n/a
7	ARID3A	chr11:48130891-48131217	HepG2	liver:	n/a	n/a
8	ARID3A	chr11:48095041-48095124	K562	blood:	n/a	n/a
9	ARID3A	chr11:48600198-48600306	K562	blood:	n/a	n/a
10	ARID3A	chr11:48082899-48083240	K562	blood:	n/a	n/a
11	ATF1	chr11:48082834-48083315	K562	blood:	n/a	n/a
12	ATF1	chr11:48356437-48356637	K562	blood:	n/a	n/a
13	ATF1	chr11:48292484-48292679	K562	blood:	n/a	n/a
14	ATF1	chr11:48077433-48077920	K562	blood:	n/a	n/a
15	ATF2	chr11:48094862-48095450	GM12878	blood:	n/a	n/a
16	ATF2	chr11:48125767-48126273	GM12878	blood:	n/a	n/a
17	ATF2	chr11:48131384-48131873	GM12878	blood:	n/a	n/a
18	ATF2	chr11:48125780-48126273	GM12878	blood:	n/a	n/a
19	ATF2	chr11:48085000-48085533	GM12878	blood:	n/a	n/a
20	ATF2	chr11:48128530-48129047	GM12878	blood:	n/a	n/a
21	ATF2	chr11:48131303-48131862	GM12878	blood:	n/a	n/a
22	ATF2	chr11:48128499-48129217	GM12878	blood:	n/a	n/a
23	ATF3	chr11:48082790-48083256	K562	blood:	n/a	n/a
24	ATF3	chr11:48194480-48194676	K562	blood:	n/a	n/a
25	ATF3	chr11:48082760-48083237	K562	blood:	n/a	n/a
26	ATF3	chr11:48194364-48194613	K562	blood:	n/a	n/a
27	BACH1	chr11:48082870-48083255	K562	blood:	n/a	n/a
28	BACH1	chr11:48110331-48110562	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr11:48356973-48356986	K562	blood:	n/a	n/a
30	BACH1	chr11:48119683-48119696	K562	blood:	n/a	n/a
31	BATF	chr11:48094903-48095273	GM12878	blood:	n/a	n/a
32	BATF	chr11:48131437-48131740	GM12878	blood:	n/a	n/a
33	BATF	chr11:48115348-48115634	GM12878	blood:	n/a	n/a
34	BATF	chr11:48128657-48129110	GM12878	blood:	n/a	n/a
35	BATF	chr11:48131359-48131717	GM12878	blood:	n/a	n/a
36	BATF	chr11:48128651-48129130	GM12878	blood:	n/a	n/a
37	BATF	chr11:48085096-48085328	GM12878	blood:	n/a	n/a
38	BCL11A	chr11:48128623-48129135	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
39	BCL11A	chr11:48128709-48129015	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
40	BCL11A	chr11:48115355-48115560	GM12878	blood:	n/a	n/a
41	BCL11A	chr11:48131334-48131777	GM12878	blood:	n/a	n/a
42	BCL3	chr11:48649085-48649287	GM12878	blood:	n/a	n/a
43	BCL3	chr11:48128638-48129194	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
44	BCL3	chr11:48115343-48115664	GM12878	blood:	n/a	n/a
45	BCL3	chr11:48084843-48085553	A549	lung:	n/a	n/a
46	BCL3	chr11:48128713-48129121	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
47	BCL3	chr11:48393835-48394182	GM12878	blood:	n/a	n/a
48	BCLAF1	chr11:48131284-48131807	GM12878	blood:	n/a	n/a
49	BCLAF1	chr11:48085022-48085407	GM12878	blood:	n/a	n/a
50	BCLAF1	chr11:48131240-48131877	GM12878	blood:	n/a	n/a

(count:1832 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48118041-48118091	SK-N-SH_RA	brain:	n/a
2	chr11:48112253-48112303	GM12878	blood:	n/a
3	chr11:48118041-48118091	SK-N-SH_RA	brain:	n/a
4	chr11:48112253-48112303	GM12878	blood:	n/a
5	chr11:48266856-48266906	SKMC	muscle:	n/a
6	chr11:48118041-48118091	CMK	blood:	n/a
7	chr11:48153832-48153882	U87	brain:	n/a
8	chr11:48328132-48328182	HRE	kidney:	n/a
9	chr11:48083100-48083150	HEK293	kidney:	embryo
10	chr11:48191068-48191118	GM06990	blood:	n/a
11	chr11:48238724-48238774	H1-hESC	embryonic stem cell:	embryo
12	chr11:48153832-48153882	HL-60	blood:	n/a
13	chr11:48509488-48509538	SKMC	muscle:	n/a
14	chr11:48191068-48191118	BE2_C	brain:	n/a
15	chr11:48118041-48118091	GM19239	blood:	n/a
16	chr11:48266856-48266906	HIPEpiC	eye:	n/a
17	chr11:48367974-48368024	Caco-2	colon:	n/a
18	chr11:48367974-48368024	A549	lung:	n/a
19	chr11:48345361-48345411	AG10803	skin:	n/a
20	chr11:48345361-48345411	HepG2	liver:	n/a
21	chr11:48185069-48185119	CMK	blood:	n/a
22	chr11:48285821-48285871	H1-hESC	embryonic stem cell:	embryo
23	chr11:48118041-48118091	HMEC	breast:	n/a
24	chr11:48345361-48345411	Caco-2	colon:	n/a
25	chr11:48345815-48345865	K562	blood:	n/a
26	chr11:48346680-48346730	T-47D	breast:	n/a
27	chr11:48509488-48509538	Caco-2	colon:	n/a
28	chr11:48509488-48509538	HNPCEpiC	eye:	n/a
29	chr11:48327164-48327214	MCF-7	breast:	n/a
30	chr11:48161861-48161911	HRPEpiC	eye:	n/a
31	chr11:48237353-48237403	HCT-116	colon:	n/a
32	chr11:48085137-48085187	HCM	heart:	n/a
33	chr11:48110045-48110095	HEK293	kidney:	embryo
34	chr11:48237358-48237408	GM12878	blood:	n/a
35	chr11:48327164-48327214	HAEpiC	amniotic membrane:	n/a
36	chr11:48326388-48326438	SKMC	muscle:	n/a
37	chr11:48191068-48191118	ECC-1	luminal epithelium:	n/a
38	chr11:48238296-48238346	HepG2	liver:	n/a
39	chr11:48266856-48266906	HPAEpiC	pulmonary alveolar:	n/a
40	chr11:48285821-48285871	HMEC	breast:	n/a
41	chr11:48510647-48510697	HRCEpiC	kidney:	n/a
42	chr11:48266856-48266906	BE2_C	brain:	n/a
43	chr11:48238296-48238346	HIPEpiC	eye:	n/a
44	chr11:48191068-48191118	HCF	heart:	n/a
45	chr11:48367974-48368024	NHBE	bronchial:	n/a
46	chr11:48237353-48237403	HCF	heart:	n/a
47	chr11:48237353-48237403	SAEC	small airway:	n/a
48	chr11:48185069-48185119	AG04450	lung:	fetal
49	chr11:48161380-48161430	HRE	kidney:	n/a
50	chr11:48284249-48284299	AG09319	gingival:	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr11:48144846..48146446-chr11:48150418..48153152,2	K562	blood:
2	chr11:48047876..48049953-chr11:48109269..48111434,2	MCF-7	breast:
3	chr11:48002635..48003533-chr11:48130431..48131591,3	MCF-7	breast:
4	chr11:48069835..48071887-chr11:48083817..48085807,2	MCF-7	breast:
5	chr11:48101649..48104254-chr11:48106713..48109745,3	MCF-7	breast:
6	chr11:48129232..48130878-chr11:48134176..48136053,2	K562	blood:
7	chr11:48071848..48074782-chr11:48077801..48079441,2	MCF-7	breast:
8	chr11:48193798..48195313-chr11:48231364..48232253,10	MCF-7	breast:
9	chr11:47985562..47986062-chr11:48130641..48131468,2	K562	blood:
10	chr11:48093831..48096549-chr11:48096756..48099477,2	MCF-7	breast:
11	chr11:48080961..48082777-chr11:48083891..48085697,2	MCF-7	breast:
12	chr11:47955472..47956729-chr11:48130954..48132546,8	MCF-7	breast:
13	chr11:48073485..48075927-chr11:48082055..48084574,2	MCF-7	breast:
14	chr11:48072169..48075662-chr11:48075736..48079290,4	MCF-7	breast:
15	chr11:48194206..48195039-chr11:49190936..49191807,2	MCF-7	breast:
16	chr11:48361908..48364233-chr11:48365831..48368223,2	MCF-7	breast:
17	chr11:48131666..48133452-chr11:48135727..48137956,2	MCF-7	breast:
18	chr11:48194137..48195015-chr11:48231499..48232341,4	MCF-7	breast:
19	chr11:48205381..48206618-chr11:48231139..48232409,4	MCF-7	breast:
20	chr11:48361908..48364233-chr11:48365831..48368223,2	MCF-7	breast:
21	chr11:48120614..48123449-chr11:48129423..48131714,2	MCF-7	breast:
22	chr11:48162891..48165104-chr11:48166215..48167785,2	K562	blood:
23	chr11:47967425..47969925-chr11:48129768..48132712,2	MCF-7	breast:
24	chr11:47839601..47841333-chr11:48132077..48133886,2	K562	blood:
25	chr11:48175475..48177463-chr11:48181716..48184556,2	MCF-7	breast:
26	chr11:47869473..47872069-chr11:48119800..48121931,2	MCF-7	breast:
27	chr11:47955553..47956701-chr11:48130593..48132313,16	K562	blood:
28	chr11:48011467..48013224-chr11:48076838..48078616,2	K562	blood:
29	chr11:48024330..48026388-chr11:48082917..48084428,2	K562	blood:
30	chr11:48121014..48122957-chr11:48124539..48127155,2	K562	blood:
31	chr11:48234220..48234962-chr11:48329425..48329937,2	MCF-7	breast:
32	chr11:47985574..47986089-chr11:48131663..48132191,2	K562	blood:
33	chr11:48077913..48080280-chr11:48080886..48083753,2	K562	blood:
34	chr11:48112031..48113821-chr11:48114417..48116008,2	K562	blood:
35	chr11:48107721..48110377-chr11:48121800..48123863,2	MCF-7	breast:
36	chr11:47857319..47859657-chr11:48158646..48160993,2	K562	blood:
37	chr11:48205381..48206618-chr11:48231139..48232409,4	MCF-7	breast:
38	chr11:48092743..48095466-chr11:48097566..48099297,2	K562	blood:
39	chr11:47736486..47737053-chr11:48130967..48131472,2	K562	blood:
40	chr11:48478071..48478587-chr11:49191267..49191777,2	MCF-7	breast:
41	chr11:48072741..48074310-chr11:48080242..48082997,2	K562	blood:
42	chr11:48036717..48039459-chr11:48129718..48132138,2	MCF-7	breast:
43	chr11:48147718..48150018-chr11:48150075..48152129,2	K562	blood:
44	chr11:48142980..48145287-chr11:48148448..48150580,3	MCF-7	breast:
45	chr11:48086913..48088924-chr11:48093954..48095544,2	K562	blood:
46	chr11:48125100..48126917-chr11:48129444..48131504,2	MCF-7	breast:
47	chr11:48081883..48084532-chr11:48088077..48090811,2	MCF-7	breast:
48	chr11:48077645..48080175-chr11:48086953..48089270,2	MCF-7	breast:
49	chr11:48109181..48111732-chr11:48113222..48115393,2	K562	blood:
50	chr11:48098800..48100999-chr11:48104120..48106582,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C5-1	chr11:48507915-48508377	NONHSAT021297

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-155-5p	chr11:48190351-48190373
2	PTPRJ	hsa-miR-124-3p	chr11:48189431-48189437
3	PTPRJ	hsa-miR-124-3p	chr11:48189418-48189438
4	PTPRJ	hsa-miR-328-3p	chr11:48191725-48191748
5	PTPRJ	hsa-miR-16-5p	chr11:48190236-48190242
6	PTPRJ	hsa-miR-155-5p	chr11:48190367-48190373
7	PTPRJ	hsa-miR-26b-5p	chr11:48190233-48190256
8	PTPRJ	hsa-miR-16-5p	chr11:48190225-48190243

Variant related genes	Relation type
OR4C9P	TF binding region
OR4C10P	TF binding region
OR4A47	TF binding region
OR4C2P	TF binding region
OR4X2	TF binding region
OR4A41P	TF binding region
OR4A46P	TF binding region
OR4B2P	TF binding region
OR4A45P	TF binding region
OR4X1	TF binding region
PTPRJ	TF binding region
OR4R1P	TF binding region
OR4A43P	TF binding region
MIR3161	TF binding region
OR4C5	TF binding region
OR4C4P	TF binding region
OR4A40P	TF binding region
OR4A44P	TF binding region
OR4A48P	TF binding region
OR4C3	TF binding region
OR4S1	TF binding region
OR4A42P	TF binding region
OR4B1	TF binding region
OR4C9P	CpG island
OR4C10P	CpG island
OR4A47	CpG island
OR4C2P	CpG island
OR4X2	CpG island
OR4A41P	CpG island
OR4A46P	CpG island
OR4B2P	CpG island
OR4A45P	CpG island
OR4X1	CpG island
PTPRJ	CpG island
OR4R1P	CpG island
OR4A43P	CpG island
MIR3161	CpG island
OR4C5	CpG island
OR4C4P	CpG island
OR4A40P	CpG island
OR4A44P	CpG island
OR4A48P	CpG island
OR4C3	CpG island
OR4S1	CpG island
OR4A42P	CpG island
OR4B1	CpG island
ENSG00000030066	chromatin interactions
ENSG00000197161	chromatin interactions
ENSG00000254879	chromatin interactions
ENSG00000149177	chromatin interactions
ENSG00000165923	chromatin interactions

Extended variants
information (count: 11039 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:11039 , 50 per page) page: 1 2 3 4 5 6 7 ... 221

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564210172	chr11:48077982-48077983	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117820469	chr11:48078065-48078066	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376824932	chr11:48078077-48078078	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12294321	chr11:48078124-48078125	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191369522	chr11:48078220-48078221	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550904417	chr11:48078230-48078231	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531499052	chr11:48078245-48078246	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530179777	chr11:48078252-48078253	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548317333	chr11:48078270-48078271	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561713421	chr11:48078276-48078277	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369667223	chr11:48078333-48078334	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527445998	chr11:48078347-48078348	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547621515	chr11:48078356-48078357	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148727896	chr11:48078420-48078421	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7118665	chr11:48078427-48078428	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142269844	chr11:48078441-48078442	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183569374	chr11:48078454-48078455	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535749821	chr11:48078460-48078461	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114678042	chr11:48078466-48078467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566261018	chr11:48078485-48078486	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151235125	chr11:48078494-48078495	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77318820	chr11:48078533-48078534	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577715256	chr11:48078566-48078567	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186906367	chr11:48078592-48078593	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557063493	chr11:48078632-48078633	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574007475	chr11:48078649-48078650	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375448005	chr11:48078679-48078680	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542679349	chr11:48078721-48078722	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112621057	chr11:48078736-48078737	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561975385	chr11:48078759-48078760	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141654510	chr11:48078787-48078788	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77082299	chr11:48078797-48078798	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564313149	chr11:48078840-48078841	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61914720	chr11:48078845-48078846	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs72899741	chr11:48078846-48078847	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10608002	chr11:48078850-48078851	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569671286	chr11:48078852-48078853	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7107868	chr11:48078904-48078905	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186475748	chr11:48078950-48078951	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566318270	chr11:48078952-48078953	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535034235	chr11:48078995-48078996	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191324907	chr11:48079040-48079041	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145412099	chr11:48079042-48079043	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369060446	chr11:48079054-48079055	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182341430	chr11:48079104-48079105	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71477906	chr11:48079136-48079137	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61914721	chr11:48079137-48079138	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs574058030	chr11:48079197-48079198	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536600727	chr11:48079199-48079200	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34979354	chr11:48079236-48079237	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Schizophrenia	20967226	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Medulloblastoma	21163964	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:4710 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48070800-48083400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:48072400-48080600	Enhancers	Spleen	Spleen
3	chr11:48074400-48081200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:48074600-48079000	Weak transcription	Esophagus	oesophagus
5	chr11:48074600-48081800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:48074600-48082400	Weak transcription	Hela-S3	cervix
7	chr11:48074600-48084200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:48074600-48085000	Weak transcription	Left Ventricle	heart
9	chr11:48075400-48078200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:48075600-48078000	Enhancers	HepG2	liver
11	chr11:48075800-48078000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:48075800-48078000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr11:48075800-48078200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:48075800-48078200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr11:48075800-48078200	Enhancers	Fetal Kidney	kidney
16	chr11:48075800-48079200	Enhancers	Fetal Thymus	thymus
17	chr11:48076000-48078000	Enhancers	Fetal Lung	lung
18	chr11:48076000-48078200	Enhancers	Brain Anterior Caudate	brain
19	chr11:48076000-48078800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:48076000-48079200	Enhancers	Dnd41	blood
21	chr11:48076000-48080200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr11:48076200-48080600	Enhancers	Primary B cells from peripheral blood	blood
23	chr11:48076400-48078200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr11:48076400-48079000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr11:48076600-48078200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr11:48076600-48078200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr11:48076600-48078600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:48076600-48079200	Enhancers	Brain Hippocampus Middle	brain
29	chr11:48076800-48078000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr11:48076800-48078000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr11:48076800-48078000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:48076800-48078000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:48076800-48078000	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr11:48076800-48078000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:48076800-48078000	Enhancers	Brain Angular Gyrus	brain
36	chr11:48076800-48078000	Enhancers	Fetal Intestine Small	intestine
37	chr11:48076800-48078000	Enhancers	Osteobl	bone
38	chr11:48076800-48078200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr11:48076800-48078600	Enhancers	Thymus	Thymus
40	chr11:48077000-48078000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:48077000-48078000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr11:48077000-48078000	Enhancers	Brain Substantia Nigra	brain
43	chr11:48077000-48078000	Flanking Active TSS	GM12878-XiMat	blood
44	chr11:48077000-48078200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr11:48077000-48078200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:48077000-48078400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr11:48077000-48078600	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr11:48077000-48079000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr11:48077200-48078000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr11:48077200-48078000	Flanking Active TSS	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links