Variant report

Variant	esv1814102
Chromosome Location	chr3:42539966-42582403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1241)
CpG islands
(count:1588)
Chromatin interactive
region (count:61)
LncRNA
region (count:75)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1241 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:42543260-42543326	HepG2	liver:	n/a	n/a
2	ATF2	chr3:42543670-42544060	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr3:42543232-42543433	K562	blood:	n/a	n/a
4	BACH1	chr3:42543207-42544084	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr3:42581380-42581489	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr3:42550180-42550442	K562	blood:	n/a	n/a
7	BHLHE40	chr3:42543250-42543741	K562	blood:	n/a	chr3:42543286-42543302
8	BHLHE40	chr3:42560496-42560516	K562	blood:	n/a	n/a
9	BHLHE40	chr3:42577949-42578245	K562	blood:	n/a	n/a
10	BRCA1	chr3:42581505-42581707	H1-hESC	embryonic stem cell:	n/a	n/a
11	CCNT2	chr3:42543936-42544338	K562	blood:	n/a	chr3:42544085-42544094 chr3:42543993-42544002
12	CCNT2	chr3:42543048-42543664	K562	blood:	n/a	n/a
13	CEBPB	chr3:42543757-42544087	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr3:42560244-42560510	K562	blood:	n/a	n/a
15	CEBPB	chr3:42560297-42560584	K562	blood:	n/a	n/a
16	CEBPB	chr3:42579017-42579075	HepG2	liver:	n/a	n/a
17	CEBPB	chr3:42560292-42560579	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr3:42543870-42544191	K562	blood:	n/a	n/a
19	CHD2	chr3:42577991-42578192	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr3:42581506-42581663	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr3:42543845-42544207	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr3:42543362-42543402	K562	blood:	n/a	n/a
23	CREB1	chr3:42543958-42544211	A549	lung:	n/a	n/a
24	CREB1	chr3:42543637-42544293	HepG2	liver:	n/a	n/a
25	CTBP2	chr3:42542581-42544333	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr3:42543200-42543350	HCFaa	heart:	n/a	n/a
27	CTCF	chr3:42581500-42581650	SAEC	small airway:	n/a	chr3:42581554-42581575 chr3:42581562-42581572 chr3:42581559-42581577 chr3:42581560-42581576 chr3:42581565-42581574
28	CTCF	chr3:42543240-42543390	HMEC	breast:	n/a	n/a
29	CTCF	chr3:42549560-42549710	HepG2	liver:	n/a	chr3:42549565-42549574
30	CTCF	chr3:42578025-42578169	Lung_OC	lung:	n/a	n/a
31	CTCF	chr3:42578040-42578190	GM12869	blood:	n/a	n/a
32	CTCF	chr3:42560400-42560550	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr3:42543260-42543410	AG04449	skin:	n/a	n/a
34	CTCF	chr3:42560372-42560605	GM12878	blood:	n/a	n/a
35	CTCF	chr3:42568169-42568325	GM12892	blood:	n/a	n/a
36	CTCF	chr3:42568141-42568352	GM12891	blood:	n/a	n/a
37	CTCF	chr3:42568189-42568323	MCF-7	breast:	n/a	n/a
38	CTCF	chr3:42581500-42581650	GM06990	blood:	n/a	chr3:42581554-42581575 chr3:42581562-42581572 chr3:42581559-42581577 chr3:42581560-42581576 chr3:42581565-42581574
39	CTCF	chr3:42581500-42581650	HRE	kidney:	n/a	chr3:42581554-42581575 chr3:42581562-42581572 chr3:42581559-42581577 chr3:42581560-42581576 chr3:42581565-42581574
40	CTCF	chr3:42543164-42543482	T-47D	breast:	n/a	n/a
41	CTCF	chr3:42568208-42568285	GM13977	blood:	n/a	n/a
42	CTCF	chr3:42577951-42578246	GM19240	blood:	n/a	n/a
43	CTCF	chr3:42543240-42543390	AG04449	skin:	n/a	n/a
44	CTCF	chr3:42560320-42560470	WI-38	lung:	n/a	n/a
45	CTCF	chr3:42581041-42581914	SK-N-SH	brain:	n/a	chr3:42581554-42581575 chr3:42581562-42581572 chr3:42581559-42581577 chr3:42581797-42581815 chr3:42581560-42581576 chr3:42581565-42581574
46	CTCF	chr3:42560340-42560490	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr3:42543151-42543474	HepG2	liver:	n/a	n/a
48	CTCF	chr3:42543260-42543410	GM12875	blood:	n/a	n/a
49	CTCF	chr3:42560380-42560530	AG09319	gingival:	n/a	n/a
50	CTCF	chr3:42560400-42560550	GM12871	blood:	n/a	n/a

(count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:42577884-42577934	SK-N-MC	brain:	n/a
2	chr3:42544020-42544070	SK-N-SH	brain:	n/a
3	chr3:42577884-42577934	SK-N-MC	brain:	n/a
4	chr3:42544020-42544070	SK-N-SH	brain:	n/a
5	chr3:42546922-42546972	SK-N-SH	brain:	n/a
6	chr3:42573697-42573747	Jurkat	blood:	n/a
7	chr3:42577884-42577934	U87	brain:	n/a
8	chr3:42543161-42543211	HRPEpiC	eye:	n/a
9	chr3:42581432-42581482	HUVEC	blood vessel:	n/a
10	chr3:42543530-42543580	ovcar-3	ovarian:	n/a
11	chr3:42577680-42577730	Jurkat	blood:	n/a
12	chr3:42577799-42577849	GM12878	blood:	n/a
13	chr3:42577755-42577805	HPAEpiC	pulmonary alveolar:	n/a
14	chr3:42578433-42578483	H1-hESC	embryonic stem cell:	embryo
15	chr3:42544060-42544110	HRCEpiC	kidney:	n/a
16	chr3:42543161-42543211	Jurkat	blood:	n/a
17	chr3:42543469-42543519	H1-hESC	embryonic stem cell:	embryo
18	chr3:42543933-42543983	T-47D	breast:	n/a
19	chr3:42543566-42543616	NT2-D1	testis:	n/a
20	chr3:42572745-42572795	HRE	kidney:	n/a
21	chr3:42577755-42577805	HEEpiC	esophagus:	n/a
22	chr3:42544618-42544668	HEEpiC	esophagus:	n/a
23	chr3:42573697-42573747	HMEC	breast:	n/a
24	chr3:42543530-42543580	HRE	kidney:	n/a
25	chr3:42544082-42544132	HMEC	breast:	n/a
26	chr3:42577755-42577805	GM19239	blood:	n/a
27	chr3:42543933-42543983	NHBE	bronchial:	n/a
28	chr3:42578433-42578483	LNCaP	prostate:	n/a
29	chr3:42577884-42577934	AG04449	skin:	fetal
30	chr3:42544101-42544151	HEEpiC	esophagus:	n/a
31	chr3:42544131-42544181	Hepatocyte	liver:	n/a
32	chr3:42546922-42546972	T-47D	breast:	n/a
33	chr3:42577716-42577766	HCF	heart:	n/a
34	chr3:42572745-42572795	BJ	skin:	n/a
35	chr3:42544020-42544070	NH-A	brain:	n/a
36	chr3:42544067-42544117	AG09309	skin:	n/a
37	chr3:42577799-42577849	IMR90	lung:	fetal
38	chr3:42544400-42544450	BE2_C	brain:	n/a
39	chr3:42575730-42575780	GM12878	blood:	n/a
40	chr3:42543933-42543983	HRCEpiC	kidney:	n/a
41	chr3:42546922-42546972	HEK293	kidney:	embryo
42	chr3:42544067-42544117	HCF	heart:	n/a
43	chr3:42577716-42577766	ProgFib	skin:	n/a
44	chr3:42543530-42543580	IMR90	lung:	fetal
45	chr3:42577680-42577730	HCM	heart:	n/a
46	chr3:42544618-42544668	CMK	blood:	n/a
47	chr3:42581432-42581482	BJ	skin:	n/a
48	chr3:42578433-42578483	PFSK-1	brain:	n/a
49	chr3:42543566-42543616	PANC-1	pancreas:	n/a
50	chr3:42543566-42543616	AG04449	skin:	fetal

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:42568483..42572153-chr3:42573252..42576729,4	K562	blood:
2	chr3:42560987..42564095-chr3:42566149..42569612,4	K562	blood:
3	chr3:42572313..42574603-chr3:42579698..42581562,2	MCF-7	breast:
4	chr3:42542597..42545270-chr3:42568668..42571142,2	K562	blood:
5	chr3:42552045..42554738-chr3:42559579..42561082,2	K562	blood:
6	chr3:42288519..42289199-chr3:42580889..42581659,2	K562	blood:
7	chr3:42560470..42561419-chr3:42581081..42581582,2	K562	blood:
8	chr3:42566788..42568912-chr3:42571807..42573949,2	K562	blood:
9	chr3:42513786..42515650-chr3:42578967..42581599,2	MCF-7	breast:
10	chr3:42575887..42578856-chr3:42582315..42584372,2	K562	blood:
11	chr3:42546908..42549650-chr3:42559175..42561054,2	MCF-7	breast:
12	chr3:42543515..42546582-chr3:42549981..42551633,3	MCF-7	breast:
13	chr3:42542480..42545383-chr3:42547014..42548808,2	MCF-7	breast:
14	chr3:42555090..42557381-chr3:42567941..42570291,2	MCF-7	breast:
15	chr3:42564213..42566544-chr3:42567890..42569436,2	K562	blood:
16	chr3:42271298..42272062-chr3:42581475..42581976,2	K562	blood:
17	chr3:42580840..42582471-chr3:42621463..42624161,2	K562	blood:
18	chr3:42558097..42560730-chr3:42575161..42577308,2	MCF-7	breast:
19	chr3:42543869..42546414-chr3:42563412..42565632,2	K562	blood:
20	chr3:42542139..42544178-chr3:42546531..42549362,2	K562	blood:
21	chr3:42555090..42557381-chr3:42567941..42570291,2	MCF-7	breast:
22	chr3:42543964..42546152-chr3:42557414..42559017,2	MCF-7	breast:
23	chr3:42543941..42547920-chr3:42554474..42558044,4	K562	blood:
24	chr3:42556101..42557803-chr3:42559500..42561568,2	K562	blood:
25	chr3:42289147..42289923-chr3:42577661..42578535,2	K562	blood:
26	chr3:42200703..42202768-chr3:42543945..42545454,2	MCF-7	breast:
27	chr3:42288683..42289698-chr3:42581102..42582025,5	MCF-7	breast:
28	chr3:42538804..42541639-chr3:42648578..42650101,2	MCF-7	breast:
29	chr3:42533518..42535270-chr3:42539632..42541675,2	MCF-7	breast:
30	chr3:42576192..42579713-chr3:42587519..42590896,6	K562	blood:
31	chr3:42560029..42560955-chr3:42577630..42578164,2	K562	blood:
32	chr3:42485131..42485764-chr3:42577911..42578463,2	MCF-7	breast:
33	chr3:42559156..42562074-chr3:42562895..42565199,3	K562	blood:
34	chr3:42540798..42542502-chr3:42574442..42577376,2	K562	blood:
35	chr3:42530093..42535343-chr3:42545492..42550064,6	MCF-7	breast:
36	chr3:42574066..42576478-chr3:42578308..42581345,3	K562	blood:
37	chr3:42560029..42560955-chr3:42577630..42578164,2	K562	blood:
38	chr3:42560470..42561419-chr3:42581081..42581582,2	K562	blood:
39	chr3:42518620..42520531-chr3:42538511..42540228,2	MCF-7	breast:
40	chr3:42559156..42562074-chr3:42562895..42565199,3	K562	blood:
41	chr3:42542685..42546162-chr3:42551658..42554598,5	MCF-7	breast:
42	chr3:42288717..42289683-chr3:42581567..42582480,3	MCF-7	breast:
43	chr3:42568483..42572153-chr3:42573252..42576729,4	K562	blood:
44	chr3:42529189..42533440-chr3:42542111..42547805,7	MCF-7	breast:
45	chr3:42558097..42560730-chr3:42575161..42577308,2	MCF-7	breast:
46	chr3:42546908..42549650-chr3:42559175..42561054,2	MCF-7	breast:
47	chr3:42542637..42545106-chr3:42553030..42555271,2	K562	blood:
48	chr3:42271508..42272505-chr3:42580738..42581596,3	MCF-7	breast:
49	chr3:42568447..42571025-chr3:42577137..42580427,3	K562	blood:
50	chr3:42542738..42545212-chr3:42547259..42551511,4	MCF-7	breast:

(count:75 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC22C-1	chr3:42548142-42548334	ENSG00000232354.3
2	lnc-SEC22C-1	chr3:42548142-42548334	NONHSAT089224
3	lnc-SEC22C-1	chr3:42553586-42553803	ENSG00000232354.3
4	lnc-SS18L2-3	chr3:42569145-42569615	NONHSAT089231
5	lnc-SEC22C-1	chr3:42562806-42562864	ENSG00000232354.3
6	lnc-SEC22C-1	chr3:42572352-42572450	ENSG00000232354.3
7	lnc-SEC22C-1	chr3:42573513-42573554	ENSG00000232354.3
8	lnc-SEC22C-1	chr3:42572352-42572450	NONHSAT089224
9	lnc-SEC22C-1	chr3:42570041-42570150	ENSG00000232354.3
10	lnc-SEC22C-1	chr3:42553550-42553784	NONHSAT089224
11	lnc-SEC22C-1	chr3:42573513-42573554	ENSG00000232354.3
12	lnc-SEC22C-1	chr3:42562806-42562864	ENSG00000232354.3
13	lnc-SEC22C-1	chr3:42572352-42572450	ENSG00000232354.3
14	lnc-SEC22C-1	chr3:42550797-42550871	ENSG00000232354.3
15	lnc-SEC22C-1	chr3:42573513-42573587	ENSG00000232354.3
16	lnc-SEC22C-1	chr3:42558274-42558328	ENSG00000232354.3
17	lnc-SEC22C-1	chr3:42553207-42553401	ENSG00000232354.3
18	lnc-SEC22C-3	chr3:42568895-42569193	expReg_chr3_2507_-
19	lnc-SS18L2-3	chr3:42572271-42572389	NONHSAT089231
20	lnc-SEC22C-1	chr3:42550304-42550427	ENSG00000232354.3
21	lnc-SEC22C-1	chr3:42553207-42553401	ENSG00000232354.3
22	lnc-SEC22C-1	chr3:42560743-42560831	ENSG00000232354.3
23	lnc-SEC22C-1	chr3:42574056-42574098	NONHSAT089224
24	lnc-SEC22C-1	chr3:42553550-42553803	ENSG00000232354.3
25	lnc-SEC22C-1	chr3:42548016-42548334	ENSG00000232354.3
26	lnc-SEC22C-1	chr3:42570041-42570146	ENSG00000232354.3
27	lnc-SEC22C-1	chr3:42572352-42572450	ENSG00000232354.3
28	lnc-SEC22C-1	chr3:42558274-42558328	ENSG00000232354.3
29	lnc-SEC22C-1	chr3:42574056-42574205	ENSG00000232354.3
30	lnc-SEC22C-1	chr3:42548184-42548334	ENSG00000232354.3
31	lnc-SEC22C-1	chr3:42558274-42558328	ENSG00000232354.3
32	lnc-SEC22C-1	chr3:42573513-42573554	ENSG00000232354.3
33	lnc-SEC22C-1	chr3:42572352-42572544	ENSG00000232354.3
34	lnc-SEC22C-1	chr3:42570041-42570150	ENSG00000232354.3
35	lnc-SEC22C-1	chr3:42572352-42572450	ENSG00000232354.3
36	lnc-SEC22C-1	chr3:42570041-42570150	ENSG00000232354.3
37	lnc-SEC22C-1	chr3:42560743-42560831	ENSG00000232354.3
38	lnc-SEC22C-1	chr3:42560743-42560882	ENSG00000232354.3
39	lnc-SEC22C-1	chr3:42558274-42558328	ENSG00000232354.3
40	lnc-SEC22C-1	chr3:42574056-42574098	ENSG00000232354.1
41	lnc-SEC22C-1	chr3:42573513-42573587	ENSG00000232354.3
42	lnc-SEC22C-1	chr3:42558274-42558328	ENSG00000232354.3
43	lnc-SEC22C-1	chr3:42555097-42555327	ENSG00000232354.3
44	lnc-SEC22C-1	chr3:42574671-42574749	ENSG00000232354.3
45	lnc-SEC22C-1	chr3:42572388-42572450	ENSG00000232354.1
46	lnc-SEC22C-1	chr3:42574671-42574750	ENSG00000232354.3
47	lnc-SEC22C-1	chr3:42573513-42573554	ENSG00000232354.3
48	lnc-SS18L2-4	chr3:42541536-42541908	NONHSAT089220
49	lnc-SEC22C-1	chr3:42574056-42574160	ENSG00000232354.3
50	lnc-SEC22C-1	chr3:42574056-42574723	ENSG00000232354.3

No data

Variant related genes	Relation type
VIPR1-AS1	TF binding region
VIPR1	TF binding region
VIPR1-AS1	CpG island
VIPR1	CpG island
ENSG00000182606	chromatin interactions
ENSG00000093183	chromatin interactions
ENSG00000008324	chromatin interactions
ENSG00000114857	chromatin interactions
ENSG00000232354	chromatin interactions
ENSG00000114812	chromatin interactions

Extended variants
information (count: 1664 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1664 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568955070	chr3:42539974-42539975	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs71315545	chr3:42540002-42540003	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150610675	chr3:42540039-42540040	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186984736	chr3:42540040-42540041	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534047730	chr3:42540041-42540042	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139790369	chr3:42540043-42540044	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs367758023	chr3:42540078-42540079	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs570280151	chr3:42540080-42540081	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs539234625	chr3:42540104-42540105	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374799449	chr3:42540128-42540129	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149369640	chr3:42540159-42540160	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188359341	chr3:42540160-42540161	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554907759	chr3:42540186-42540187	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575033057	chr3:42540198-42540199	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115729996	chr3:42540209-42540210	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539803445	chr3:42540251-42540252	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560682522	chr3:42540263-42540264	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557830250	chr3:42540270-42540271	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576403985	chr3:42540271-42540272	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532785381	chr3:42540299-42540300	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546394845	chr3:42540302-42540303	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs180730953	chr3:42540306-42540307	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114259791	chr3:42540308-42540309	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371978915	chr3:42540315-42540316	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185245635	chr3:42540318-42540319	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568021993	chr3:42540322-42540323	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558998493	chr3:42540414-42540415	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527608709	chr3:42540428-42540429	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144787413	chr3:42540434-42540435	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs190352909	chr3:42540529-42540530	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs556104452	chr3:42540588-42540589	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72862506	chr3:42540589-42540590	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555932047	chr3:42540604-42540605	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75465769	chr3:42540693-42540694	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550086982	chr3:42540721-42540722	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398082063	chr3:42540726-42540727	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397989338	chr3:42540727-42540728	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538289081	chr3:42540828-42540829	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs554687810	chr3:42540870-42540871	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs574741086	chr3:42540917-42540918	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574276320	chr3:42540918-42540919	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs540613135	chr3:42540922-42540923	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs554530565	chr3:42540925-42540926	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577607339	chr3:42540955-42540956	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs139655688	chr3:42540957-42540958	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541692748	chr3:42540994-42540995	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577971010	chr3:42541001-42541002	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531329781	chr3:42541058-42541059	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376205156	chr3:42541070-42541071	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541878106	chr3:42541075-42541076	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	17229543	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:1513 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42534800-42542800	Weak transcription	Right Ventricle	heart
2	chr3:42535000-42543000	Weak transcription	Left Ventricle	heart
3	chr3:42535200-42542800	Weak transcription	Pancreas	Pancrea
4	chr3:42535600-42543000	Weak transcription	Lung	lung
5	chr3:42538000-42540400	Enhancers	Fetal Heart	heart
6	chr3:42538400-42541200	Enhancers	NHEK	skin
7	chr3:42538400-42543000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:42538600-42540000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:42538600-42541000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:42538800-42540000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:42539000-42540200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
12	chr3:42539000-42542800	Weak transcription	Gastric	stomach
13	chr3:42539200-42542400	Weak transcription	Right Atrium	heart
14	chr3:42539200-42542800	Weak transcription	Spleen	Spleen
15	chr3:42539600-42540000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:42539600-42540200	Enhancers	Brain Cingulate Gyrus	brain
17	chr3:42539600-42540400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
18	chr3:42539800-42542400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:42540000-42540200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr3:42540000-42540200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
21	chr3:42540000-42542400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:42540200-42540400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr3:42540200-42540400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
24	chr3:42540600-42541000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:42541200-42541400	Flanking Active TSS	NHEK	skin
26	chr3:42541200-42541800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:42541400-42542000	Enhancers	NHEK	skin
28	chr3:42541600-42541800	Bivalent Enhancer	Fetal Brain Male	brain
29	chr3:42541800-42542000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr3:42541800-42542000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
31	chr3:42541800-42542200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr3:42542000-42544800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr3:42542200-42542400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
34	chr3:42542200-42542600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
35	chr3:42542200-42542600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr3:42542200-42542600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr3:42542200-42542600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:42542200-42545200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr3:42542400-42542600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
40	chr3:42542400-42542600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr3:42542400-42542600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:42542400-42542600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr3:42542400-42542800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr3:42542400-42542800	Enhancers	Primary hematopoietic stem cells	blood
45	chr3:42542400-42542800	Bivalent Enhancer	Fetal Intestine Large	intestine
46	chr3:42542400-42542800	Strong transcription	Right Atrium	heart
47	chr3:42542400-42543000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
48	chr3:42542400-42543000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:42542400-42543200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:42542400-42543400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links