Variant report

Variant	nsv1038210
Chromosome Location	chr11:48068862-48388686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3242)
CpG islands
(count:1770)
Chromatin interactive
region (count:137)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:8)

(count:3242 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

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	chr11:48130883-48131832	K562	blood:	n/a	n/a
3	ARID3A	chr11:48082899-48083240	K562	blood:	n/a	n/a
4	ARID3A	chr11:48095041-48095124	K562	blood:	n/a	n/a
5	ARID3A	chr11:48123329-48123998	HepG2	liver:	n/a	n/a
6	ARID3A	chr11:48118839-48119112	HepG2	liver:	n/a	n/a
7	ARID3A	chr11:48131445-48131835	HepG2	liver:	n/a	n/a
8	ARID3A	chr11:48114969-48116284	HepG2	liver:	n/a	n/a
9	ARID3A	chr11:48194471-48194702	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	chr11:48077433-48077920	K562	blood:	n/a	n/a
13	ATF1	chr11:48292484-48292679	K562	blood:	n/a	n/a
14	ATF2	chr11:48131384-48131873	GM12878	blood:	n/a	n/a
15	ATF2	chr11:48131303-48131862	GM12878	blood:	n/a	n/a
16	ATF2	chr11:48085000-48085533	GM12878	blood:	n/a	n/a
17	ATF2	chr11:48125780-48126273	GM12878	blood:	n/a	n/a
18	ATF2	chr11:48073780-48074198	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr11:48125767-48126273	GM12878	blood:	n/a	n/a
20	ATF2	chr11:48094862-48095450	GM12878	blood:	n/a	n/a
21	ATF2	chr11:48128499-48129217	GM12878	blood:	n/a	n/a
22	ATF2	chr11:48077237-48077812	GM12878	blood:	n/a	n/a
23	ATF2	chr11:48128530-48129047	GM12878	blood:	n/a	n/a
24	ATF3	chr11:48082790-48083256	K562	blood:	n/a	n/a
25	ATF3	chr11:48194364-48194613	K562	blood:	n/a	n/a
26	ATF3	chr11:48194480-48194676	K562	blood:	n/a	n/a
27	ATF3	chr11:48082760-48083237	K562	blood:	n/a	n/a
28	BACH1	chr11:48119683-48119696	K562	blood:	n/a	n/a
29	BACH1	chr11:48110331-48110562	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr11:48356973-48356986	K562	blood:	n/a	n/a
31	BACH1	chr11:48082870-48083255	K562	blood:	n/a	n/a
32	BATF	chr11:48077422-48077763	GM12878	blood:	n/a	n/a
33	BATF	chr11:48085096-48085328	GM12878	blood:	n/a	n/a
34	BATF	chr11:48131437-48131740	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	chr11:48094903-48095273	GM12878	blood:	n/a	n/a
38	BATF	chr11:48069274-48069666	GM12878	blood:	n/a	n/a
39	BATF	chr11:48115348-48115634	GM12878	blood:	n/a	n/a
40	BATF	chr11:48128657-48129110	GM12878	blood:	n/a	n/a
41	BCL11A	chr11:48128709-48129015	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
42	BCL11A	chr11:48073903-48074078	H1-hESC	embryonic stem cell:	n/a	n/a
43	BCL11A	chr11:48131334-48131777	GM12878	blood:	n/a	n/a
44	BCL11A	chr11:48115355-48115560	GM12878	blood:	n/a	n/a
45	BCL11A	chr11:48128623-48129135	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
46	BCL3	chr11:48084843-48085553	A549	lung:	n/a	n/a
47	BCL3	chr11:48128713-48129121	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
48	BCL3	chr11:48128638-48129194	GM12878	blood:	n/a	chr11:48128925-48128934 chr11:48128836-48128843 chr11:48128926-48128935
49	BCL3	chr11:48115343-48115664	GM12878	blood:	n/a	n/a
50	BCLAF1	chr11:48115236-48115686	GM12878	blood:	n/a	n/a

(count:1770 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48345361-48345411	PFSK-1	brain:	n/a
2	chr11:48345361-48345411	PFSK-1	brain:	n/a
3	chr11:48284249-48284299	NB4	blood:	n/a
4	chr11:48112253-48112303	HCT-116	colon:	n/a
5	chr11:48345361-48345411	HNPCEpiC	eye:	n/a
6	chr11:48085137-48085187	SK-N-MC	brain:	n/a
7	chr11:48118041-48118091	ProgFib	skin:	n/a
8	chr11:48345361-48345411	AG10803	skin:	n/a
9	chr11:48345815-48345865	SKMC	muscle:	n/a
10	chr11:48238296-48238346	NH-A	brain:	n/a
11	chr11:48238724-48238774	NHBE	bronchial:	n/a
12	chr11:48345815-48345865	HL-60	blood:	n/a
13	chr11:48345815-48345865	BJ	skin:	n/a
14	chr11:48374446-48374496	NH-A	brain:	n/a
15	chr11:48238296-48238346	MCF10A-Er-Src	breast:	n/a
16	chr11:48367974-48368024	HRE	kidney:	n/a
17	chr11:48129067-48129117	ovcar-3	ovarian:	n/a
18	chr11:48161380-48161430	NH-A	brain:	n/a
19	chr11:48161380-48161430	Caco-2	colon:	n/a
20	chr11:48237353-48237403	SK-N-SH_RA	brain:	n/a
21	chr11:48161861-48161911	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:48328132-48328182	HMEC	breast:	n/a
23	chr11:48118041-48118091	HEEpiC	esophagus:	n/a
24	chr11:48191068-48191118	GM12878	blood:	n/a
25	chr11:48161861-48161911	HNPCEpiC	eye:	n/a
26	chr11:48161380-48161430	CMK	blood:	n/a
27	chr11:48129067-48129117	SKMC	muscle:	n/a
28	chr11:48285821-48285871	HRE	kidney:	n/a
29	chr11:48326388-48326438	CMK	blood:	n/a
30	chr11:48327164-48327214	Caco-2	colon:	n/a
31	chr11:48285821-48285871	HNPCEpiC	eye:	n/a
32	chr11:48118041-48118091	MCF-7	breast:	n/a
33	chr11:48118041-48118091	NHBE	bronchial:	n/a
34	chr11:48326388-48326438	NHBE	bronchial:	n/a
35	chr11:48110045-48110095	BE2_C	brain:	n/a
36	chr11:48374446-48374496	AG10803	skin:	n/a
37	chr11:48327164-48327214	IMR90	lung:	fetal
38	chr11:48077221-48077271	AG09319	gingival:	n/a
39	chr11:48083100-48083150	Jurkat	blood:	n/a
40	chr11:48161861-48161911	PANC-1	pancreas:	n/a
41	chr11:48129067-48129117	HRE	kidney:	n/a
42	chr11:48237353-48237403	HepG2	liver:	n/a
43	chr11:48129067-48129117	GM12891	blood:	n/a
44	chr11:48069893-48069943	AG09309	skin:	n/a
45	chr11:48285200-48285250	HRE	kidney:	n/a
46	chr11:48284249-48284299	NHBE	bronchial:	n/a
47	chr11:48374446-48374496	AG04449	skin:	fetal
48	chr11:48285821-48285871	GM19239	blood:	n/a
49	chr11:48110045-48110095	AG04450	lung:	fetal
50	chr11:48129067-48129117	HL-60	blood:	n/a

(count:137 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr11:48077913..48080280-chr11:48080886..48083753,2	K562	blood:
2	chr11:47879130..47879931-chr11:48131064..48131706,2	MCF-7	breast:
3	chr11:48081883..48084532-chr11:48088077..48090811,2	MCF-7	breast:
4	chr11:48120614..48123449-chr11:48129423..48131714,2	MCF-7	breast:
5	chr11:48142980..48145287-chr11:48148448..48150580,3	MCF-7	breast:
6	chr11:48083070..48085451-chr11:48088899..48092016,4	K562	blood:
7	chr11:48205381..48206618-chr11:48231139..48232409,4	MCF-7	breast:
8	chr11:48077913..48080280-chr11:48080886..48083753,2	K562	blood:
9	chr11:48065377..48067770-chr11:48067852..48069454,2	MCF-7	breast:
10	chr11:48194206..48195039-chr11:49190936..49191807,2	MCF-7	breast:
11	chr11:47968790..47969517-chr11:48130956..48131704,2	MCF-7	breast:
12	chr11:48073485..48075927-chr11:48082055..48084574,2	MCF-7	breast:
13	chr11:48193798..48195313-chr11:48231364..48232253,10	MCF-7	breast:
14	chr11:48093831..48096549-chr11:48096756..48099477,2	MCF-7	breast:
15	chr11:48144846..48146446-chr11:48150418..48153152,2	K562	blood:
16	chr11:48011467..48013224-chr11:48076838..48078616,2	K562	blood:
17	chr11:48131666..48133452-chr11:48135727..48137956,2	MCF-7	breast:
18	chr11:48047876..48049953-chr11:48109269..48111434,2	MCF-7	breast:
19	chr11:48081533..48083185-chr11:48091579..48093994,2	MCF-7	breast:
20	chr11:48000629..48003536-chr11:48164616..48166215,2	K562	blood:
21	chr11:48112031..48113821-chr11:48114417..48116008,2	K562	blood:
22	chr11:48086913..48088924-chr11:48093954..48095544,2	K562	blood:
23	chr11:48083070..48085451-chr11:48088899..48092016,4	K562	blood:
24	chr11:48072810..48075370-chr11:48080373..48082997,2	K562	blood:
25	chr11:48071477..48072173-chr11:48130347..48131089,2	MCF-7	breast:
26	chr11:48063050..48065981-chr11:48070901..48073953,3	MCF-7	breast:
27	chr11:48101649..48104254-chr11:48106713..48109745,3	MCF-7	breast:
28	chr11:48112031..48113821-chr11:48114417..48116008,2	K562	blood:
29	chr11:47869473..47872069-chr11:48119800..48121931,2	MCF-7	breast:
30	chr11:48077645..48080175-chr11:48086953..48089270,2	MCF-7	breast:
31	chr11:47955553..47956701-chr11:48130593..48132313,16	K562	blood:
32	chr11:48061733..48064075-chr11:48066877..48069020,2	K562	blood:
33	chr11:48108133..48109846-chr11:48110400..48112858,3	MCF-7	breast:
34	chr11:48107721..48110377-chr11:48121800..48123863,2	MCF-7	breast:
35	chr11:48366878..48368914-chr11:48372533..48375413,2	MCF-7	breast:
36	chr11:48109181..48111732-chr11:48113222..48115393,2	K562	blood:
37	chr11:48077645..48080175-chr11:48086953..48089270,2	MCF-7	breast:
38	chr11:48068073..48069888-chr11:48129032..48131534,2	MCF-7	breast:
39	chr11:47970432..47972132-chr11:48121699..48124423,2	K562	blood:
40	chr11:48147029..48148645-chr11:48154007..48155529,2	MCF-7	breast:
41	chr11:48075993..48078690-chr11:48080770..48083090,2	MCF-7	breast:
42	chr11:48069835..48071887-chr11:48083817..48085807,2	MCF-7	breast:
43	chr11:48147718..48150018-chr11:48150075..48152129,2	K562	blood:
44	chr11:48086913..48088924-chr11:48093954..48095544,2	K562	blood:
45	chr11:48071848..48074782-chr11:48077801..48079441,2	MCF-7	breast:
46	chr11:48105031..48106761-chr11:48108023..48109885,2	MCF-7	breast:
47	chr11:48092743..48095466-chr11:48097566..48099297,2	K562	blood:
48	chr11:48046572..48047306-chr11:48130972..48131586,2	MCF-7	breast:
49	chr11:48361908..48364233-chr11:48365831..48368223,2	MCF-7	breast:
50	chr11:48205861..48206473-chr11:48233802..48234494,2	MCF-7	breast:

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

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
ENSG00000149177	chromatin interactions
ENSG00000165923	chromatin interactions
ENSG00000197161	chromatin interactions
ENSG00000254879	chromatin interactions
ENSG00000030066	chromatin interactions

Extended variants
information (count: 9675 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:9675 , 50 per page) page: 1 2 3 4 5 6 7 ... 194

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147020090	chr11:48068892-48068893	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553721048	chr11:48068954-48068955	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576799000	chr11:48068956-48068957	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570342425	chr11:48068979-48068980	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570882271	chr11:48068987-48068988	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546455271	chr11:48069044-48069045	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs60885977	chr11:48069051-48069052	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201707178	chr11:48069053-48069054	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201874746	chr11:48069063-48069064	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs397804132	chr11:48069064-48069065	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376032354	chr11:48069121-48069122	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370785774	chr11:48069162-48069163	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532053180	chr11:48069177-48069178	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542395194	chr11:48069178-48069179	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562315006	chr11:48069192-48069193	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs527775465	chr11:48069196-48069197	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547608396	chr11:48069200-48069201	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570799983	chr11:48069202-48069203	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533143271	chr11:48069207-48069208	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs549782226	chr11:48069211-48069212	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568774001	chr11:48069314-48069315	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs60085783	chr11:48069396-48069397	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554341540	chr11:48069397-48069398	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569628746	chr11:48069542-48069543	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138198756	chr11:48069603-48069604	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535557952	chr11:48069604-48069605	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549068498	chr11:48069611-48069612	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553614691	chr11:48069658-48069659	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576894218	chr11:48069665-48069666	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545441320	chr11:48069719-48069720	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143682029	chr11:48069745-48069746	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576804604	chr11:48069797-48069798	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181542039	chr11:48069822-48069823	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556681359	chr11:48069850-48069851	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114348905	chr11:48069863-48069864	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185969203	chr11:48069866-48069867	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116415665	chr11:48069893-48069894	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs527905427	chr11:48069931-48069932	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541631012	chr11:48069955-48069956	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190821530	chr11:48069964-48069965	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533480174	chr11:48069974-48069975	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549720442	chr11:48070019-48070020	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs569764259	chr11:48070072-48070073	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs531495411	chr11:48070143-48070144	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182457322	chr11:48070169-48070170	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535202867	chr11:48070171-48070172	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs185849655	chr11:48070174-48070175	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533721043	chr11:48070175-48070176	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558216299	chr11:48070214-48070215	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191053165	chr11:48070217-48070218	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 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:5243 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

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	chr11:48050800-48073000	Weak transcription	Esophagus	oesophagus
4	chr11:48051600-48071200	Weak transcription	Fetal Intestine Large	intestine
5	chr11:48051600-48073800	Weak transcription	Aorta	Aorta
6	chr11:48053800-48073400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:48057000-48069800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:48058000-48069600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:48058000-48073400	Weak transcription	K562	blood
10	chr11:48058400-48069600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:48058600-48069600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:48058600-48072000	Weak transcription	Fetal Kidney	kidney
13	chr11:48060000-48073000	Weak transcription	Hela-S3	cervix
14	chr11:48060000-48073200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:48062600-48073400	Weak transcription	Gastric	stomach
16	chr11:48062800-48070600	Weak transcription	Pancreas	Pancrea
17	chr11:48064200-48069000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr11:48064400-48069600	Weak transcription	Fetal Stomach	stomach
19	chr11:48064400-48069600	Weak transcription	NHDF-Ad	bronchial
20	chr11:48064400-48073200	Weak transcription	NHLF	lung
21	chr11:48064600-48069200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:48064600-48073400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:48065000-48071600	Genic enhancers	A549	lung
24	chr11:48065600-48076000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:48065800-48069400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:48065800-48074200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:48066000-48069600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:48066000-48069600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:48066000-48069800	Weak transcription	Adipose Nuclei	Adipose
30	chr11:48066000-48071800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:48066000-48073000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:48066000-48073800	Weak transcription	Colonic Mucosa	Colon
33	chr11:48066000-48073800	Weak transcription	Right Atrium	heart
34	chr11:48066000-48074000	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:48066000-48075600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:48066000-48076800	Weak transcription	Thymus	Thymus
37	chr11:48066200-48071600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:48066200-48071800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:48066200-48072000	Weak transcription	Liver	Liver
40	chr11:48066200-48072400	Weak transcription	Fetal Thymus	thymus
41	chr11:48066200-48073000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:48066200-48073800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:48066400-48069600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:48066400-48071800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:48066400-48073400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:48066400-48073800	Weak transcription	Lung	lung
47	chr11:48066600-48069800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:48066600-48073400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr11:48066800-48069400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:48067000-48072800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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