Variant report

Variant	esv3377346
Chromosome Location	chr2:99345945-99348493
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	chr2:99348284-99349093	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:99347710-99347908	HepG2	liver:	n/a	n/a
3	BACH1	chr2:99346840-99346973	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:99347838-99348187	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr2:99347751-99348118	GM12878	blood:	n/a	chr2:99348042-99348058
6	BHLHE40	chr2:99346571-99347012	HepG2	liver:	n/a	chr2:99346971-99346987
7	BRCA1	chr2:99347750-99347916	HepG2	liver:	n/a	n/a
8	BRCA1	chr2:99347882-99347930	GM12878	blood:	n/a	n/a
9	CCNT2	chr2:99347175-99347456	K562	blood:	n/a	n/a
10	CEBPB	chr2:99348249-99348809	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:99348446-99348773	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:99346243-99346870	HepG2	liver:	n/a	n/a
13	CEBPD	chr2:99346652-99347301	HepG2	liver:	n/a	n/a
14	CEBPD	chr2:99347639-99347979	HepG2	liver:	n/a	n/a
15	CEBPD	chr2:99347647-99347927	HepG2	liver:	n/a	n/a
16	CHD1	chr2:99348067-99348246	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr2:99347958-99347989	GM12878	blood:	n/a	n/a
18	CHD2	chr2:99347720-99348370	HepG2	liver:	n/a	n/a
19	CHD2	chr2:99347694-99348352	GM12878	blood:	n/a	n/a
20	CHD2	chr2:99347101-99347164	HepG2	liver:	n/a	n/a
21	CREB1	chr2:99347648-99348058	A549	lung:	n/a	n/a
22	CREB1	chr2:99346553-99348804	HepG2	liver:	n/a	n/a
23	CTCF	chr2:99347315-99347451	Kidney_OC	kidney:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
24	CTCF	chr2:99347320-99347470	HCT-116	colon:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
25	CTCF	chr2:99347330-99347388	LNCaP	prostate:	n/a	chr2:99347374-99347382
26	CTCF	chr2:99347312-99347419	Gliobla	brain:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
27	CTCF	chr2:99347289-99347449	GM12892	blood:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
28	CTCF	chr2:99347300-99347450	GM12865	blood:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
29	CTCF	chr2:99347273-99347400	SK-N-SH_RA	brain:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
30	CTCF	chr2:99347303-99347419	Pancreas_OC	pancreas:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
31	CTCF	chr2:99347260-99347410	Caco-2	colon:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
32	CTCF	chr2:99346720-99346870	GM12874	blood:	n/a	n/a
33	CTCF	chr2:99347300-99347450	GM12874	blood:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
34	CTCF	chr2:99347280-99347430	GM12864	blood:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
35	CTCF	chr2:99347280-99347430	GM12872	blood:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
36	CTCF	chr2:99347280-99347430	HUVEC	blood vessel:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
37	CTCF	chr2:99347249-99347460	MCF-7	breast:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
38	CTCF	chr2:99347294-99347403	Spleen_OC	spleen:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
39	CTCF	chr2:99347300-99347450	HCT-116	colon:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
40	CTCF	chr2:99347220-99347370	AG04450	lung:	n/a	n/a
41	CTCF	chr2:99347280-99347430	HRPEpiC	eye:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
42	CTCF	chr2:99347220-99347370	K562	blood:	n/a	n/a
43	CTCF	chr2:99347300-99347450	GM12868	blood:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
44	CTCF	chr2:99347287-99347447	MCF-7	breast:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
45	CTCF	chr2:99347341-99347410	Lung_OC	lung:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
46	CTCF	chr2:99347240-99347390	HCPEpiC	choroid plexus:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
47	CTCF	chr2:99347280-99347430	HMEC	breast:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
48	CTCF	chr2:99347280-99347430	HEK293	kidney:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
49	CTCF	chr2:99347240-99347390	AoAF	blood vessel:	n/a	chr2:99347374-99347382 chr2:99347371-99347389
50	CTCF	chr2:99347260-99347410	HA-sp	spinal cord:	n/a	chr2:99347374-99347382 chr2:99347371-99347389

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:99347979-99348029	BJ	skin:	n/a
2	chr2:99346635-99346685	Hepatocyte	liver:	n/a
3	chr2:99347979-99348029	GM12878	blood:	n/a
4	chr2:99347854-99347904	GM12878	blood:	n/a
5	chr2:99347422-99347472	HEK293	kidney:	embryo
6	chr2:99346902-99346952	NB4	blood:	n/a
7	chr2:99348176-99348226	GM19239	blood:	n/a
8	chr2:99348176-99348226	HL-60	blood:	n/a
9	chr2:99346635-99346685	SK-N-SH	brain:	n/a
10	chr2:99347422-99347472	AG09309	skin:	n/a
11	chr2:99346902-99346952	GM12891	blood:	n/a
12	chr2:99346818-99346868	GM06990	blood:	n/a
13	chr2:99347987-99348037	AG09309	skin:	n/a
14	chr2:99346902-99346952	LNCaP	prostate:	n/a
15	chr2:99348232-99348282	HCM	heart:	n/a
16	chr2:99348176-99348226	MCF-7	breast:	n/a
17	chr2:99346635-99346685	IMR90	lung:	fetal
18	chr2:99347979-99348029	GM06990	blood:	n/a
19	chr2:99348232-99348282	HPAEpiC	pulmonary alveolar:	n/a
20	chr2:99347979-99348029	AoSMC	blood vessel:	n/a
21	chr2:99348232-99348282	NT2-D1	testis:	n/a
22	chr2:99348176-99348226	HRPEpiC	eye:	n/a
23	chr2:99346902-99346952	Caco-2	colon:	n/a
24	chr2:99347987-99348037	SK-N-MC	brain:	n/a
25	chr2:99348232-99348282	NHBE	bronchial:	n/a
26	chr2:99348176-99348226	PFSK-1	brain:	n/a
27	chr2:99347854-99347904	HCPEpiC	choroid plexus:	n/a
28	chr2:99347979-99348029	HRE	kidney:	n/a
29	chr2:99347979-99348029	SK-N-MC	brain:	n/a
30	chr2:99348176-99348226	SAEC	small airway:	n/a
31	chr2:99346902-99346952	A549	lung:	n/a
32	chr2:99346902-99346952	ECC-1	luminal epithelium:	n/a
33	chr2:99346818-99346868	HCPEpiC	choroid plexus:	n/a
34	chr2:99346635-99346685	AG04449	skin:	fetal
35	chr2:99348176-99348226	BJ	skin:	n/a
36	chr2:99347422-99347472	H1-hESC	embryonic stem cell:	embryo
37	chr2:99347979-99348029	A549	lung:	n/a
38	chr2:99346902-99346952	HCT-116	colon:	n/a
39	chr2:99346818-99346868	HRE	kidney:	n/a
40	chr2:99346902-99346952	Jurkat	blood:	n/a
41	chr2:99348176-99348226	LNCaP	prostate:	n/a
42	chr2:99346902-99346952	HRPEpiC	eye:	n/a
43	chr2:99346818-99346868	PFSK-1	brain:	n/a
44	chr2:99346818-99346868	SK-N-MC	brain:	n/a
45	chr2:99346818-99346868	PANC-1	pancreas:	n/a
46	chr2:99347422-99347472	HL-60	blood:	n/a
47	chr2:99347422-99347472	MCF10A-Er-Src	breast:	n/a
48	chr2:99347422-99347472	AG04449	skin:	fetal
49	chr2:99347987-99348037	GM12892	blood:	n/a
50	chr2:99347422-99347472	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:99342514..99344879-chr2:99346177..99348798,2	K562	blood:
2	chr2:99343338..99345259-chr2:99346373..99348700,3	MCF-7	breast:
3	chr2:99345360..99347894-chr2:99396622..99399352,2	MCF-7	breast:
4	chr2:99342228..99344879-chr2:99346177..99348874,2	K562	blood:
5	chr2:99345368..99349321-chr2:99385005..99390572,6	MCF-7	breast:
6	chr2:99344922..99348721-chr2:99382903..99389092,6	MCF-7	breast:
7	chr2:99336480..99339286-chr2:99347871..99349769,2	MCF-7	breast:
8	chr2:99348346..99350092-chr2:99446085..99447956,2	MCF-7	breast:
9	chr2:99221557..99223102-chr2:99346482..99348239,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC50-1	chr2:99347828-99348158	NONHSAT072721
2	lnc-UNC50-1	chr2:99348118-99348158	XLOC_001587

Variant related genes	Relation type
MGAT4A	TF binding region
MGAT4A	CpG island
ENSG00000183513	chromatin interactions
ENSG00000226791	chromatin interactions
ENSG00000071073	chromatin interactions
ENSG00000201070	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144223623	chr2:99345965-99345966	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs75457124	chr2:99345967-99345968	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs553411924	chr2:99346031-99346032	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs552327555	chr2:99346057-99346058	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs145206645	chr2:99346073-99346074	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs537855442	chr2:99346075-99346076	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs554577383	chr2:99346149-99346150	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs575034778	chr2:99346214-99346215	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs534465597	chr2:99346287-99346288	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs554160969	chr2:99346317-99346318	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs149209172	chr2:99346328-99346329	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs545967504	chr2:99346331-99346332	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs72825789	chr2:99346336-99346337	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549837063	chr2:99346343-99346344	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs545399798	chr2:99346346-99346347	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs143399130	chr2:99346380-99346381	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs545626821	chr2:99346392-99346393	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs562070691	chr2:99346397-99346398	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs116041020	chr2:99346429-99346430	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs116969883	chr2:99346430-99346431	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs560163471	chr2:99346451-99346452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs532380999	chr2:99346455-99346456	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs552366194	chr2:99346492-99346493	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs568993924	chr2:99346581-99346582	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs189652043	chr2:99346606-99346607	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs151288415	chr2:99346635-99346636	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs548217379	chr2:99346652-99346653	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs199927995	chr2:99346673-99346674	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs533551251	chr2:99346692-99346693	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs554478737	chr2:99346704-99346705	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs561661049	chr2:99346728-99346729	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs192225126	chr2:99346780-99346781	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs376954356	chr2:99346944-99346945	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs367757867	chr2:99346992-99346993	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs10174321	chr2:99347002-99347003	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556312080	chr2:99347021-99347022	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs377249138	chr2:99347032-99347033	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs10210711	chr2:99347034-99347035	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541957490	chr2:99347084-99347085	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs555574282	chr2:99347181-99347182	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs185816156	chr2:99347197-99347198	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs572429905	chr2:99347200-99347201	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs34841901	chr2:99347210-99347211	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs190236428	chr2:99347240-99347241	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs560411925	chr2:99347348-99347349	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs532418149	chr2:99347507-99347508	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs546023815	chr2:99347509-99347510	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs559389584	chr2:99347563-99347564	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs562632243	chr2:99347698-99347699	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs5008045	chr2:99347699-99347700	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	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
Ovarian cancer	21781307	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99326400-99346400	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:99335200-99346600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:99337000-99346200	Weak transcription	Aorta	Aorta
4	chr2:99338000-99346200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:99338200-99346200	Weak transcription	Placenta	Placenta
6	chr2:99340200-99346600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:99340200-99346600	Weak transcription	Esophagus	oesophagus
8	chr2:99340400-99346200	Weak transcription	Lung	lung
9	chr2:99342800-99346800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr2:99343000-99346000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:99343000-99346000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:99343000-99346200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:99343000-99346200	Weak transcription	NHEK	skin
14	chr2:99343000-99346600	Weak transcription	Gastric	stomach
15	chr2:99343600-99346200	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:99343800-99346200	Enhancers	Liver	Liver
17	chr2:99343800-99346800	Flanking Active TSS	Dnd41	blood
18	chr2:99344200-99346200	Weak transcription	Left Ventricle	heart
19	chr2:99344200-99348400	Active TSS	Primary T cells fromperipheralblood	blood
20	chr2:99344400-99346000	Weak transcription	Stomach Mucosa	stomach
21	chr2:99344600-99346000	Enhancers	Thymus	Thymus
22	chr2:99344600-99346200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:99344600-99346200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr2:99344600-99346200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:99344600-99346200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:99344600-99346600	Weak transcription	Spleen	Spleen
27	chr2:99344600-99347000	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr2:99344600-99348600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:99344800-99346000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:99344800-99346200	Weak transcription	Fetal Kidney	kidney
31	chr2:99344800-99348600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr2:99345000-99346000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:99345000-99347000	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr2:99345000-99348800	Active TSS	Duodenum Mucosa	Duodenum
35	chr2:99345200-99346200	Weak transcription	GM12878-XiMat	blood
36	chr2:99345200-99346600	Flanking Active TSS	HUVEC	blood vessel
37	chr2:99345200-99348400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr2:99345400-99348400	Active TSS	Primary T cells from cord blood	blood
39	chr2:99345600-99346000	Active TSS	Brain Cingulate Gyrus	brain
40	chr2:99345600-99346000	Active TSS	Fetal Thymus	thymus
41	chr2:99345600-99346000	Flanking Active TSS	HepG2	liver
42	chr2:99345600-99346200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:99345600-99346200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr2:99345600-99346400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr2:99345600-99346400	Active TSS	Adipose Nuclei	Adipose
46	chr2:99345600-99347000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr2:99345600-99347000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:99345600-99348400	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr2:99345600-99348400	Active TSS	Fetal Intestine Large	intestine
50	chr2:99345600-99349200	Active TSS	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links