Variant report

Variant	nsv875027
Chromosome Location	chr2:128387937-128408170
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	chr2:128402852-128402944	HepG2	liver:	n/a	n/a
2	ATF1	chr2:128395319-128395639	K562	blood:	n/a	n/a
3	ATF2	chr2:128395260-128395633	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr2:128395213-128395669	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr2:128407243-128407554	GM12878	blood:	n/a	n/a
6	ATF2	chr2:128390643-128391096	GM12878	blood:	n/a	n/a
7	ATF3	chr2:128401745-128401880	K562	blood:	n/a	n/a
8	BATF	chr2:128395358-128395563	GM12878	blood:	n/a	n/a
9	BCL11A	chr2:128390676-128391052	GM12878	blood:	n/a	n/a
10	BHLHE40	chr2:128395747-128395861	K562	blood:	n/a	n/a
11	BHLHE40	chr2:128407395-128407643	GM12878	blood:	n/a	n/a
12	BHLHE40	chr2:128396128-128396261	K562	blood:	n/a	n/a
13	BHLHE40	chr2:128407298-128407596	K562	blood:	n/a	n/a
14	BRCA1	chr2:128407346-128407624	Hela-S3	cervix:	n/a	n/a
15	CCNT2	chr2:128404581-128404775	K562	blood:	n/a	chr2:128404664-128404684
16	CCNT2	chr2:128395299-128395499	K562	blood:	n/a	n/a
17	CEBPB	chr2:128395817-128396208	K562	blood:	n/a	chr2:128396018-128396029
18	CEBPB	chr2:128395872-128396195	IMR90	lung:	n/a	chr2:128396018-128396029
19	CEBPB	chr2:128395924-128396104	HepG2	liver:	n/a	chr2:128396018-128396029
20	CEBPB	chr2:128395791-128396221	MCF-7	breast:	n/a	chr2:128396018-128396029
21	CEBPB	chr2:128402725-128402856	HepG2	liver:	n/a	chr2:128402781-128402792
22	CEBPB	chr2:128395844-128396166	K562	blood:	n/a	chr2:128396018-128396029
23	CEBPB	chr2:128395370-128395570	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr2:128395924-128396209	H1-hESC	embryonic stem cell:	n/a	chr2:128396018-128396029
25	CEBPB	chr2:128387560-128388007	MCF-7	breast:	n/a	chr2:128387774-128387785
26	CEBPB	chr2:128395864-128396191	HepG2	liver:	n/a	chr2:128396018-128396029
27	CEBPB	chr2:128395866-128396205	HepG2	liver:	n/a	chr2:128396018-128396029
28	CHD2	chr2:128407371-128407553	K562	blood:	n/a	n/a
29	CHD2	chr2:128407348-128407622	HepG2	liver:	n/a	n/a
30	CHD2	chr2:128407406-128407662	GM12878	blood:	n/a	n/a
31	CHD2	chr2:128398116-128398212	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr2:128406899-128406990	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr2:128401780-128401930	GM12874	blood:	n/a	chr2:128401808-128401826 chr2:128401810-128401831 chr2:128401811-128401820
34	CTCF	chr2:128398048-128398307	GM12892	blood:	n/a	n/a
35	CTCF	chr2:128401680-128401830	HFF-Myc	foreskin:	n/a	chr2:128401808-128401826 chr2:128401811-128401820
36	CTCF	chr2:128407366-128407571	A549	lung:	n/a	chr2:128407485-128407495 chr2:128407483-128407499 chr2:128407484-128407497 chr2:128407482-128407500 chr2:128407477-128407498 chr2:128407488-128407497
37	CTCF	chr2:128401700-128401850	SK-N-SH_RA	brain:	n/a	chr2:128401808-128401826 chr2:128401810-128401831 chr2:128401811-128401820
38	CTCF	chr2:128407349-128407642	GM12878	blood:	n/a	chr2:128407485-128407495 chr2:128407483-128407499 chr2:128407484-128407497 chr2:128407482-128407500 chr2:128407477-128407498 chr2:128407488-128407497
39	CTCF	chr2:128407420-128407570	GM12866	blood:	n/a	chr2:128407485-128407495 chr2:128407483-128407499 chr2:128407484-128407497 chr2:128407482-128407500 chr2:128407477-128407498 chr2:128407488-128407497
40	CTCF	chr2:128398120-128398270	HL-60	blood:	n/a	n/a
41	CTCF	chr2:128407760-128407910	NHDF-neo	bronchial:	n/a	n/a
42	CTCF	chr2:128398120-128398270	HCFaa	heart:	n/a	n/a
43	CTCF	chr2:128407400-128407550	WERI-Rb-1	eye:	n/a	chr2:128407485-128407495 chr2:128407483-128407499 chr2:128407484-128407497 chr2:128407482-128407500 chr2:128407477-128407498 chr2:128407488-128407497
44	CTCF	chr2:128407400-128407550	GM12864	blood:	n/a	chr2:128407485-128407495 chr2:128407483-128407499 chr2:128407484-128407497 chr2:128407482-128407500 chr2:128407477-128407498 chr2:128407488-128407497
45	CTCF	chr2:128398057-128398316	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr2:128407351-128407641	K562	blood:	n/a	chr2:128407485-128407495 chr2:128407483-128407499 chr2:128407484-128407497 chr2:128407482-128407500 chr2:128407477-128407498 chr2:128407488-128407497
47	CTCF	chr2:128407440-128407590	Caco-2	colon:	n/a	chr2:128407485-128407495 chr2:128407483-128407499 chr2:128407484-128407497 chr2:128407482-128407500 chr2:128407477-128407498 chr2:128407488-128407497
48	CTCF	chr2:128398020-128398170	GM12865	blood:	n/a	n/a
49	CTCF	chr2:128407420-128407570	GM12872	blood:	n/a	chr2:128407485-128407495 chr2:128407483-128407499 chr2:128407484-128407497 chr2:128407482-128407500 chr2:128407477-128407498 chr2:128407488-128407497
50	CTCF	chr2:128401768-128401858	Spleen_OC	spleen:	n/a	chr2:128401808-128401826 chr2:128401810-128401831 chr2:128401811-128401820

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:128402294-128402344	SK-N-MC	brain:	n/a
2	chr2:128403710-128403760	Hepatocyte	liver:	n/a
3	chr2:128388876-128388926	AG04449	skin:	fetal
4	chr2:128402294-128402344	SK-N-MC	brain:	n/a
5	chr2:128403710-128403760	Hepatocyte	liver:	n/a
6	chr2:128388876-128388926	AG04449	skin:	fetal
7	chr2:128389207-128389257	T-47D	breast:	n/a
8	chr2:128403133-128403183	K562	blood:	n/a
9	chr2:128389103-128389153	ECC-1	luminal epithelium:	n/a
10	chr2:128389103-128389153	AG04450	lung:	fetal
11	chr2:128389103-128389153	AG09319	gingival:	n/a
12	chr2:128407154-128407204	HMEC	breast:	n/a
13	chr2:128403133-128403183	HAEpiC	amniotic membrane:	n/a
14	chr2:128405844-128405894	SAEC	small airway:	n/a
15	chr2:128402415-128402465	NHBE	bronchial:	n/a
16	chr2:128395196-128395246	AG09319	gingival:	n/a
17	chr2:128407154-128407204	H1-hESC	embryonic stem cell:	embryo
18	chr2:128403084-128403134	NHDF-neo	bronchial:	n/a
19	chr2:128403710-128403760	Jurkat	blood:	n/a
20	chr2:128389207-128389257	GM12892	blood:	n/a
21	chr2:128403084-128403134	HPAEpiC	pulmonary alveolar:	n/a
22	chr2:128395196-128395246	LNCaP	prostate:	n/a
23	chr2:128389112-128389162	NHBE	bronchial:	n/a
24	chr2:128395196-128395246	MCF10A-Er-Src	breast:	n/a
25	chr2:128403286-128403336	NH-A	brain:	n/a
26	chr2:128403084-128403134	HEEpiC	esophagus:	n/a
27	chr2:128389207-128389257	NHDF-neo	bronchial:	n/a
28	chr2:128403133-128403183	SK-N-SH_RA	brain:	n/a
29	chr2:128389103-128389153	HAEpiC	amniotic membrane:	n/a
30	chr2:128395196-128395246	NHDF-neo	bronchial:	n/a
31	chr2:128402415-128402465	SAEC	small airway:	n/a
32	chr2:128402415-128402465	HepG2	liver:	n/a
33	chr2:128395196-128395246	GM12892	blood:	n/a
34	chr2:128388876-128388926	GM12892	blood:	n/a
35	chr2:128402294-128402344	AG09319	gingival:	n/a
36	chr2:128402294-128402344	SKMC	muscle:	n/a
37	chr2:128404486-128404536	ECC-1	luminal epithelium:	n/a
38	chr2:128405844-128405894	HCM	heart:	n/a
39	chr2:128388876-128388926	NH-A	brain:	n/a
40	chr2:128388876-128388926	AG04450	lung:	fetal
41	chr2:128404486-128404536	NHBE	bronchial:	n/a
42	chr2:128388876-128388926	NHBE	bronchial:	n/a
43	chr2:128389112-128389162	NT2-D1	testis:	n/a
44	chr2:128396059-128396109	HEEpiC	esophagus:	n/a
45	chr2:128395196-128395246	ECC-1	luminal epithelium:	n/a
46	chr2:128403133-128403183	HCPEpiC	choroid plexus:	n/a
47	chr2:128395196-128395246	IMR90	lung:	fetal
48	chr2:128407154-128407204	PrEC	prostate:	n/a
49	chr2:128389112-128389162	HCT-116	colon:	n/a
50	chr2:128402294-128402344	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:128385318..128388983-chr2:128393086..128394739,3	MCF-7	breast:
2	chr2:128367186..128368182-chr2:128407427..128407956,2	MCF-7	breast:
3	chr2:128283737..128286203-chr2:128392070..128394407,2	MCF-7	breast:
4	chr2:128386978..128389867-chr2:128392766..128396164,5	MCF-7	breast:
5	chr2:128394527..128396772-chr2:128458451..128460497,2	MCF-7	breast:
6	chr2:128388582..128390159-chr2:128390369..128392220,2	K562	blood:
7	chr2:128379152..128382886-chr2:128385919..128388760,4	K562	blood:
8	chr17:41464756..41466583-chr2:128402419..128403919,2	K562	blood:
9	chr2:128402343..128404793-chr2:128407484..128409770,2	MCF-7	breast:
10	chr2:128396263..128398888-chr2:128399161..128401002,2	MCF-7	breast:
11	chr2:128282521..128284586-chr2:128401987..128404000,3	MCF-7	breast:
12	chr2:128266465..128268562-chr2:128395784..128397620,2	MCF-7	breast:
13	chr2:128386610..128389542-chr2:128567624..128570008,2	MCF-7	breast:
14	chr17:41464681..41467245-chr2:128400919..128402419,3	K562	blood:
15	chr2:128399188..128401329-chr2:128456948..128459490,2	MCF-7	breast:
16	chr2:128281499..128284149-chr2:128402816..128405194,3	K562	blood:
17	chr2:128396660..128399808-chr2:128456748..128459804,3	K562	blood:
18	chr2:128393595..128398988-chr2:128401355..128406842,9	K562	blood:
19	chr2:128282410..128284022-chr2:128394708..128396398,2	MCF-7	breast:
20	chr2:128399168..128401965-chr2:128403212..128405574,3	MCF-7	breast:
21	chr2:128348828..128349586-chr2:128398143..128398870,2	MCF-7	breast:
22	chr2:128367073..128368593-chr2:128390549..128393243,2	K562	blood:
23	chr2:128280589..128286553-chr2:128394118..128400117,7	K562	blood:
24	chr2:128388233..128390478-chr2:128396235..128397787,2	K562	blood:
25	chr2:128391814..128393751-chr2:128458053..128460441,2	MCF-7	breast:
26	chr2:128396263..128398888-chr2:128399161..128401002,2	MCF-7	breast:
27	chr2:128385318..128388983-chr2:128393086..128394739,3	MCF-7	breast:
28	chr2:128398549..128402607-chr2:128405867..128407455,4	MCF-7	breast:
29	chr2:128395249..128397685-chr2:128567372..128568887,2	K562	blood:
30	chr2:128395122..128397868-chr2:128458445..128462393,4	MCF-7	breast:
31	chr2:128388188..128389976-chr2:128397282..128399225,3	MCF-7	breast:
32	chr2:128380533..128382202-chr2:128389367..128391180,2	K562	blood:
33	chr2:128283338..128286732-chr2:128405209..128408607,3	MCF-7	breast:
34	chr2:128389876..128393259-chr2:128457359..128460267,4	K562	blood:
35	chr2:128349017..128351644-chr2:128387621..128389792,2	MCF-7	breast:
36	chr2:128388233..128390478-chr2:128396235..128397787,2	K562	blood:
37	chr2:128387080..128389116-chr2:128389708..128392331,3	MCF-7	breast:
38	chr2:128389859..128392516-chr2:128399643..128401704,2	K562	blood:
39	chr2:128282097..128285637-chr2:128404430..128407235,3	MCF-7	breast:
40	chr2:128404401..128407109-chr2:128457505..128460604,3	K562	blood:
41	chr2:128389859..128392516-chr2:128399643..128401704,2	K562	blood:
42	chr2:128393595..128398988-chr2:128401355..128406842,9	K562	blood:
43	chr2:128402343..128404793-chr2:128407484..128409770,2	MCF-7	breast:
44	chr2:128399168..128401965-chr2:128403212..128405574,3	MCF-7	breast:
45	chr2:128396062..128398700-chr2:128403094..128404905,3	K562	blood:
46	chr2:128368208..128370995-chr2:128394997..128397698,2	K562	blood:
47	chr2:128396062..128398700-chr2:128403094..128404905,3	K562	blood:
48	chr2:128386978..128389867-chr2:128392766..128396164,5	MCF-7	breast:
49	chr2:128406114..128408879-chr2:128412310..128414037,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LIMS2-1	chr2:128391285-128394251	NONHSAT074176
2	lnc-LIMS2-1	chr2:128394380-128394796	NONHSAT074176

Variant related genes	Relation type
GPR17	TF binding region
LIMS2	TF binding region
ENSG00000272789	TF binding region
MYO7B	TF binding region
GPR17	CpG island
LIMS2	CpG island
ENSG00000272789	CpG island
MYO7B	CpG island
ENSG00000163166	chromatin interactions
ENSG00000144230	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000072163	chromatin interactions
ENSG00000169994	chromatin interactions
ENSG00000173349	chromatin interactions
ENSG00000136709	chromatin interactions

Extended variants
information (count: 1190 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1190 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13417920	chr2:128387937-128387938	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150381871	chr2:128387939-128387940	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs73953663	chr2:128387970-128387971	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138106253	chr2:128387978-128387979	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs554381325	chr2:128387992-128387993	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs565819045	chr2:128388062-128388063	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs375703745	chr2:128388067-128388068	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs73953664	chr2:128388087-128388088	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs558000146	chr2:128388121-128388122	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs577498184	chr2:128388126-128388127	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs543337880	chr2:128388130-128388131	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs556507548	chr2:128388135-128388136	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs573313264	chr2:128388156-128388157	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs577619451	chr2:128388215-128388216	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs542271023	chr2:128388276-128388277	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs369073620	chr2:128388282-128388283	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs528232363	chr2:128388283-128388284	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs10187353	chr2:128388286-128388287	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs541250165	chr2:128388307-128388308	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs564731164	chr2:128388313-128388314	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs533639656	chr2:128388314-128388315	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs550510987	chr2:128388321-128388322	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs114608656	chr2:128388333-128388334	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs376500341	chr2:128388390-128388391	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs370798104	chr2:128388391-128388392	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs549403034	chr2:128388407-128388408	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs138651379	chr2:128388437-128388438	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs375081670	chr2:128388466-128388467	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs567240186	chr2:128388492-128388493	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs535151097	chr2:128388498-128388499	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs113251802	chr2:128388500-128388501	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs375991043	chr2:128388504-128388505	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs556566264	chr2:128388516-128388517	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs560393262	chr2:128388531-128388532	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs536909224	chr2:128388549-128388550	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs556841874	chr2:128388566-128388567	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs201547981	chr2:128388605-128388606	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs573647110	chr2:128388644-128388645	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs542249681	chr2:128388666-128388667	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs552969261	chr2:128388667-128388668	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs112061998	chr2:128388668-128388669	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs545111192	chr2:128388680-128388681	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs564634762	chr2:128388681-128388682	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs576334047	chr2:128388727-128388728	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs374460808	chr2:128388734-128388735	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs544081187	chr2:128388756-128388757	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs563968024	chr2:128388760-128388761	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs368862072	chr2:128388773-128388774	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs370050348	chr2:128388781-128388782	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs529653760	chr2:128388783-128388784	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:1110 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128359200-128395200	Strong transcription	Duodenum Mucosa	Duodenum
2	chr2:128371000-128391600	Strong transcription	Fetal Intestine Large	intestine
3	chr2:128371400-128390800	Strong transcription	Fetal Intestine Small	intestine
4	chr2:128376600-128391200	Weak transcription	HSMMtube	muscle
5	chr2:128378400-128392000	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:128378400-128393600	Genic enhancers	Dnd41	blood
7	chr2:128379400-128388000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:128381800-128391000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:128382600-128388200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:128382800-128391000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:128383000-128388600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:128383000-128391800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:128384400-128392400	Enhancers	Right Ventricle	heart
14	chr2:128385200-128389200	Strong transcription	Colonic Mucosa	Colon
15	chr2:128385400-128388800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:128385800-128388800	Enhancers	Spleen	Spleen
17	chr2:128386000-128388000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:128386200-128396000	Enhancers	Fetal Thymus	thymus
19	chr2:128386400-128395600	Enhancers	Primary B cells from cord blood	blood
20	chr2:128386600-128391200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:128386600-128394400	Enhancers	Fetal Heart	heart
22	chr2:128386800-128388000	Enhancers	Fetal Muscle Leg	muscle
23	chr2:128386800-128388200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr2:128387000-128389000	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:128387000-128392600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:128387200-128388400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:128387400-128388000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:128387400-128388200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:128387400-128388400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:128387400-128392600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:128387400-128396400	Enhancers	Placenta	Placenta
32	chr2:128387600-128389000	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:128387600-128389000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:128387600-128389000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr2:128387600-128389200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr2:128387600-128392200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:128387600-128392400	Enhancers	Right Atrium	heart
38	chr2:128387800-128388000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:128387800-128388200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr2:128387800-128388200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:128387800-128388400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr2:128387800-128389800	Enhancers	Lung	lung
43	chr2:128387800-128391600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:128388000-128388800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:128388000-128388800	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:128388000-128389800	Enhancers	Colon Smooth Muscle	Colon
47	chr2:128388000-128393200	Enhancers	Left Ventricle	heart
48	chr2:128388000-128394600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:128388000-128394800	Enhancers	Adipose Nuclei	Adipose
50	chr2:128388000-128395000	Enhancers	Primary T cells fromperipheralblood	blood

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