Variant report

Variant	esv3363039
Chromosome Location	chr2:234262388-234264686
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	ATF2	chr2:234262604-234263118	GM12878	blood:	n/a	n/a
2	BACH1	chr2:234263723-234263984	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr2:234263832-234264395	A549	lung:	n/a	n/a
4	BCLAF1	chr2:234262238-234262967	GM12878	blood:	n/a	n/a
5	BHLHE40	chr2:234263584-234263970	GM12878	blood:	n/a	chr2:234263690-234263706 chr2:234263683-234263699
6	BHLHE40	chr2:234262241-234262644	K562	blood:	n/a	n/a
7	CCNT2	chr2:234262308-234262911	K562	blood:	n/a	chr2:234262453-234262473
8	CCNT2	chr2:234263138-234263393	K562	blood:	n/a	n/a
9	CHD1	chr2:234263792-234263916	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr2:234262322-234263203	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr2:234263733-234263918	GM12878	blood:	n/a	n/a
12	CHD2	chr2:234262554-234262887	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr2:234262645-234263169	GM12878	blood:	n/a	n/a
14	CHD2	chr2:234262889-234262951	HepG2	liver:	n/a	n/a
15	CREB1	chr2:234263143-234263404	A549	lung:	n/a	n/a
16	CTCF	chr2:234262940-234263090	GM12878	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
17	CTCF	chr2:234262940-234263090	NHLF	lung:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
18	CTCF	chr2:234262974-234263090	Gliobla	brain:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
19	CTCF	chr2:234262600-234262750	SAEC	small airway:	n/a	n/a
20	CTCF	chr2:234262920-234263070	RPTEC	kidney:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
21	CTCF	chr2:234262880-234263030	BE2_C	brain:	n/a	n/a
22	CTCF	chr2:234262960-234263110	HCT-116	colon:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
23	CTCF	chr2:234262710-234263224	GM12878	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
24	CTCF	chr2:234262938-234263114	LNCaP	prostate:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
25	CTCF	chr2:234262700-234262850	AG04450	lung:	n/a	n/a
26	CTCF	chr2:234262900-234263050	HPF	lung:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
27	CTCF	chr2:234262480-234262630	NHLF	lung:	n/a	n/a
28	CTCF	chr2:234262960-234263110	GM12868	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
29	CTCF	chr2:234262940-234263090	GM12875	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
30	CTCF	chr2:234262940-234263090	GM12864	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
31	CTCF	chr2:234262920-234263070	HUVEC	blood vessel:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
32	CTCF	chr2:234262920-234263070	WERI-Rb-1	eye:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
33	CTCF	chr2:234262920-234263070	BE2_C	brain:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
34	CTCF	chr2:234262940-234263090	HAc	cerebellar:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
35	CTCF	chr2:234262949-234263079	ProgFib	skin:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
36	CTCF	chr2:234262700-234262850	HRE	kidney:	n/a	n/a
37	CTCF	chr2:234262689-234262773	K562	blood:	n/a	n/a
38	CTCF	chr2:234262900-234263050	HBMEC	blood vessel:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
39	CTCF	chr2:234262900-234263050	HA-sp	spinal cord:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
40	CTCF	chr2:234262900-234263050	HepG2	liver:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
41	CTCF	chr2:234262914-234263133	GM12891	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
42	CTCF	chr2:234262740-234262890	A549	lung:	n/a	n/a
43	CTCF	chr2:234262880-234263030	AG10803	skin:	n/a	n/a
44	CTCF	chr2:234262904-234263139	MCF-7	breast:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
45	CTCF	chr2:234262640-234262790	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr2:234262855-234263289	K562	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
47	CTCF	chr2:234262920-234263070	AG10803	skin:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
48	CTCF	chr2:234262940-234263090	GM12871	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
49	CTCF	chr2:234262880-234263030	HMF	breast:	n/a	n/a
50	CTCF	chr2:234262968-234263083	A549	lung:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234262964-234263014	HL-60	blood:	n/a
2	chr2:234264163-234264213	GM19239	blood:	n/a
3	chr2:234262964-234263014	HL-60	blood:	n/a
4	chr2:234264163-234264213	GM19239	blood:	n/a
5	chr2:234262348-234262398	A549	lung:	n/a
6	chr2:234264163-234264213	RPTEC	kidney:	n/a
7	chr2:234263251-234263301	LNCaP	prostate:	n/a
8	chr2:234262348-234262398	PrEC	prostate:	n/a
9	chr2:234262348-234262398	MCF10A-Er-Src	breast:	n/a
10	chr2:234262978-234263028	AG09319	gingival:	n/a
11	chr2:234262978-234263028	PrEC	prostate:	n/a
12	chr2:234262348-234262398	HUVEC	blood vessel:	n/a
13	chr2:234262964-234263014	LNCaP	prostate:	n/a
14	chr2:234262978-234263028	NHDF-neo	bronchial:	n/a
15	chr2:234262348-234262398	LNCaP	prostate:	n/a
16	chr2:234263768-234263818	HRE	kidney:	n/a
17	chr2:234263768-234263818	HPAEpiC	pulmonary alveolar:	n/a
18	chr2:234262952-234263002	SK-N-MC	brain:	n/a
19	chr2:234264163-234264213	HRPEpiC	eye:	n/a
20	chr2:234264163-234264213	HCM	heart:	n/a
21	chr2:234262784-234262834	NB4	blood:	n/a
22	chr2:234262348-234262398	HPAEpiC	pulmonary alveolar:	n/a
23	chr2:234262978-234263028	SK-N-MC	brain:	n/a
24	chr2:234262952-234263002	HRPEpiC	eye:	n/a
25	chr2:234262964-234263014	AoSMC	blood vessel:	n/a
26	chr2:234262952-234263002	ovcar-3	ovarian:	n/a
27	chr2:234262952-234263002	HCM	heart:	n/a
28	chr2:234263251-234263301	SKMC	muscle:	n/a
29	chr2:234263768-234263818	RPTEC	kidney:	n/a
30	chr2:234262952-234263002	HCT-116	colon:	n/a
31	chr2:234262964-234263014	CMK	blood:	n/a
32	chr2:234263768-234263818	MCF10A-Er-Src	breast:	n/a
33	chr2:234262978-234263028	MCF-7	breast:	n/a
34	chr2:234263768-234263818	HEEpiC	esophagus:	n/a
35	chr2:234262784-234262834	H1-hESC	embryonic stem cell:	embryo
36	chr2:234262978-234263028	SK-N-SH	brain:	n/a
37	chr2:234263768-234263818	H1-hESC	embryonic stem cell:	embryo
38	chr2:234262978-234263028	HPAEpiC	pulmonary alveolar:	n/a
39	chr2:234263251-234263301	HAEpiC	amniotic membrane:	n/a
40	chr2:234263251-234263301	GM12878	blood:	n/a
41	chr2:234262952-234263002	PrEC	prostate:	n/a
42	chr2:234262964-234263014	Hela-S3	cervix:	n/a
43	chr2:234263768-234263818	GM19239	blood:	n/a
44	chr2:234262952-234263002	GM12878	blood:	n/a
45	chr2:234264163-234264213	BJ	skin:	n/a
46	chr2:234262978-234263028	HNPCEpiC	eye:	n/a
47	chr2:234262784-234262834	HEK293	kidney:	embryo
48	chr2:234263768-234263818	NH-A	brain:	n/a
49	chr2:234262348-234262398	SK-N-SH	brain:	n/a
50	chr2:234262964-234263014	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234159288..234161886-chr2:234264094..234265602,2	MCF-7	breast:
2	chr2:234195095..234197515-chr2:234263227..234265841,2	MCF-7	breast:
3	chr2:234245499..234247293-chr2:234261946..234264130,2	K562	blood:
4	chr2:233749631..233751772-chr2:234261254..234263295,2	MCF-7	breast:
5	chr2:234260930..234263276-chr20:55839671..55841991,2	MCF-7	breast:
6	chr2:234163205..234166188-chr2:234263952..234265730,2	MCF-7	breast:
7	chr2:234160002..234161727-chr2:234263204..234265213,2	MCF-7	breast:
8	chr2:234242282..234244298-chr2:234262922..234265541,2	MCF-7	breast:
9	chr2:234263404..234265699-chr2:234319043..234321996,3	MCF-7	breast:
10	chr2:234264479..234266031-chr2:234270714..234272402,2	K562	blood:
11	chr2:234198551..234200102-chr2:234262598..234264638,2	MCF-7	breast:
12	chr2:234263725..234265766-chr2:234287688..234290576,3	MCF-7	breast:
13	chr2:234238246..234240780-chr2:234263095..234264681,2	K562	blood:
14	chr2:234259434..234265610-chr2:234290886..234296562,9	MCF-7	breast:

Variant related genes	Relation type
DGKD	TF binding region
ENSG00000259793	TF binding region
ENSG00000243637	TF binding region
DGKD	CpG island
ENSG00000259793	CpG island
ENSG00000243637	CpG island
ENSG00000201013	chromatin interactions
ENSG00000130561	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000066248	chromatin interactions
ENSG00000251791	chromatin interactions
ENSG00000077044	chromatin interactions
ENSG00000085978	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143496448	chr2:234262391-234262392	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs148018243	chr2:234262392-234262393	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs567232105	chr2:234262414-234262415	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs536384459	chr2:234262471-234262472	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs552688452	chr2:234262514-234262515	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs572832085	chr2:234262545-234262546	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs545034884	chr2:234262568-234262569	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs377355256	chr2:234262582-234262583	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs558859119	chr2:234262585-234262586	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs73995918	chr2:234262663-234262664	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544400223	chr2:234262754-234262755	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs183133099	chr2:234262779-234262780	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs530127844	chr2:234262829-234262830	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs533975674	chr2:234262860-234262861	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs115485962	chr2:234262920-234262921	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs369472590	chr2:234262950-234262951	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs373884985	chr2:234262965-234262966	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs200819727	chr2:234262973-234262974	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs2340832	chr2:234262974-234262975	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs186389146	chr2:234263011-234263012	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs191197082	chr2:234263449-234263450	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs532337881	chr2:234263655-234263656	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs552173826	chr2:234263670-234263671	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs562556803	chr2:234263724-234263725	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs569185364	chr2:234263742-234263743	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs531914131	chr2:234263776-234263777	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs548484365	chr2:234263800-234263801	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs370408026	chr2:234263801-234263802	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs534130831	chr2:234263889-234263890	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs552994146	chr2:234263891-234263892	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs566589172	chr2:234263895-234263896	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs531822062	chr2:234263927-234263928	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs558615717	chr2:234263983-234263984	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs182562646	chr2:234264030-234264031	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs187881669	chr2:234264044-234264045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs554465475	chr2:234264088-234264089	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs1372098	chr2:234264093-234264094	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs574534451	chr2:234264105-234264106	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs372150117	chr2:234264108-234264109	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs547569257	chr2:234264118-234264119	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs560604493	chr2:234264141-234264142	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs191023499	chr2:234264178-234264179	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs545774589	chr2:234264199-234264200	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs1372099	chr2:234264211-234264212	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs562581024	chr2:234264241-234264242	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs116686041	chr2:234264265-234264266	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs548814097	chr2:234264269-234264270	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs562255908	chr2:234264287-234264288	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs567260642	chr2:234264357-234264358	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs183337864	chr2:234264438-234264439	Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234255800-234262400	Weak transcription	Right Atrium	heart
2	chr2:234256400-234262400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr2:234256800-234262400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:234257800-234263000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr2:234258200-234262600	Weak transcription	Psoas Muscle	Psoas
6	chr2:234258400-234262400	Weak transcription	Ovary	ovary
7	chr2:234258600-234262400	Weak transcription	Fetal Kidney	kidney
8	chr2:234258800-234262600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:234259200-234262400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:234259400-234262400	Weak transcription	Brain Angular Gyrus	brain
11	chr2:234259400-234263200	Weak transcription	Small Intestine	intestine
12	chr2:234259800-234262400	Weak transcription	HSMMtube	muscle
13	chr2:234259800-234262400	Weak transcription	NHLF	lung
14	chr2:234260200-234262400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:234260200-234262400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:234260400-234262400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:234260400-234262400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:234260400-234262400	Weak transcription	HSMM	muscle
19	chr2:234260400-234262400	Weak transcription	NH-A	brain
20	chr2:234260400-234262400	Weak transcription	NHDF-Ad	bronchial
21	chr2:234260400-234262400	Weak transcription	Osteobl	bone
22	chr2:234260400-234262600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:234261000-234262400	Enhancers	Liver	Liver
24	chr2:234261200-234262400	Enhancers	Placenta	Placenta
25	chr2:234261400-234262400	Enhancers	K562	blood
26	chr2:234261400-234262800	Flanking Active TSS	GM12878-XiMat	blood
27	chr2:234261400-234263000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr2:234261600-234262800	Enhancers	Stomach Mucosa	stomach
29	chr2:234261600-234262800	Flanking Active TSS	Hela-S3	cervix
30	chr2:234261800-234262400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:234261800-234262400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:234261800-234262400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:234261800-234262400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr2:234261800-234262400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:234261800-234262400	Enhancers	Brain Anterior Caudate	brain
36	chr2:234261800-234262400	Enhancers	Esophagus	oesophagus
37	chr2:234261800-234262400	Enhancers	Fetal Intestine Small	intestine
38	chr2:234261800-234262400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr2:234261800-234262400	Enhancers	Fetal Muscle Leg	muscle
40	chr2:234261800-234262400	Enhancers	Fetal Thymus	thymus
41	chr2:234261800-234262400	Enhancers	Gastric	stomach
42	chr2:234261800-234262400	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr2:234261800-234262400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:234261800-234262600	Enhancers	Lung	lung
45	chr2:234261800-234262600	Enhancers	Spleen	Spleen
46	chr2:234261800-234262800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr2:234261800-234262800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr2:234261800-234263000	Flanking Active TSS	Colonic Mucosa	Colon
49	chr2:234261800-234263000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr2:234262000-234262400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links