Variant report

Variant	nsv873821
Chromosome Location	chr2:34738616-35416075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1681)
CpG islands
(count:122)
Chromatin interactive
region (count:47)
LncRNA
region (count:104)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1681 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:35041098-35041398	K562	blood:	n/a	n/a
2	ATF1	chr2:34814574-34814687	K562	blood:	n/a	n/a
3	ATF3	chr2:35305906-35306470	A549	lung:	n/a	n/a
4	BACH1	chr2:34989249-34989315	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr2:34902925-34903229	GM12878	blood:	n/a	n/a
6	BATF	chr2:34902415-34902679	GM12878	blood:	n/a	n/a
7	BATF	chr2:34881803-34882061	GM12878	blood:	n/a	n/a
8	BATF	chr2:34902921-34903226	GM12878	blood:	n/a	n/a
9	BCL11A	chr2:35401795-35402176	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr2:34803709-34804015	GM12878	blood:	n/a	n/a
11	BHLHE40	chr2:34902255-34902723	GM12878	blood:	n/a	n/a
12	BHLHE40	chr2:34930671-34930923	GM12878	blood:	n/a	n/a
13	BHLHE40	chr2:34795688-34795858	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:35041520-35041884	HepG2	liver:	n/a	n/a
15	BHLHE40	chr2:34891473-34891834	GM12878	blood:	n/a	n/a
16	BHLHE40	chr2:34908833-34908941	GM12878	blood:	n/a	n/a
17	BHLHE40	chr2:34827333-34827668	GM12878	blood:	n/a	n/a
18	BHLHE40	chr2:34963851-34964109	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:35047276-35047302	K562	blood:	n/a	n/a
20	BHLHE40	chr2:35042118-35042381	HepG2	liver:	n/a	n/a
21	BRCA1	chr2:35399964-35400197	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr2:34744823-34745018	K562	blood:	n/a	n/a
23	CCNT2	chr2:35338484-35338775	K562	blood:	n/a	n/a
24	CEBPB	chr2:34960041-34960126	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr2:35198711-35198969	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:35268351-35268632	HepG2	liver:	n/a	chr2:35268466-35268477
27	CEBPB	chr2:34759877-34760165	K562	blood:	n/a	chr2:34759972-34759985
28	CEBPB	chr2:35174670-35174965	A549	lung:	n/a	chr2:35174816-35174827 chr2:35174816-35174829
29	CEBPB	chr2:35305183-35305324	HepG2	liver:	n/a	chr2:35305190-35305202 chr2:35305241-35305252
30	CEBPB	chr2:35175906-35176236	A549	lung:	n/a	chr2:35176080-35176091
31	CEBPB	chr2:35174661-35174982	HepG2	liver:	n/a	chr2:35174816-35174827 chr2:35174816-35174829
32	CEBPB	chr2:35305982-35306458	A549	lung:	n/a	chr2:35306013-35306030
33	CEBPB	chr2:34850814-34851079	HepG2	liver:	n/a	chr2:34850939-34850950 chr2:34850903-34850914
34	CEBPB	chr2:35255529-35255814	HepG2	liver:	n/a	chr2:35255644-35255655
35	CEBPB	chr2:34850841-34851040	A549	lung:	n/a	chr2:34850939-34850950 chr2:34850903-34850914
36	CEBPB	chr2:34931219-34931422	HepG2	liver:	n/a	chr2:34931302-34931313
37	CEBPB	chr2:34907939-34908176	A549	lung:	n/a	chr2:34908035-34908046
38	CEBPB	chr2:35303761-35303856	HepG2	liver:	n/a	chr2:35303788-35303799
39	CEBPB	chr2:35175917-35176290	A549	lung:	n/a	chr2:35176080-35176091
40	CEBPB	chr2:35376002-35376339	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr2:35375163-35375530	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr2:35367584-35367813	A549	lung:	n/a	n/a
43	CEBPB	chr2:34795632-34795901	MCF-7	breast:	n/a	n/a
44	CEBPB	chr2:35003237-35003348	HepG2	liver:	n/a	n/a
45	CEBPB	chr2:35175897-35176260	IMR90	lung:	n/a	chr2:35176080-35176091
46	CEBPB	chr2:35010577-35010790	HepG2	liver:	n/a	n/a
47	CEBPB	chr2:34840044-34840132	A549	lung:	n/a	n/a
48	CEBPB	chr2:35100004-35100077	A549	lung:	n/a	n/a
49	CEBPB	chr2:35392691-35392950	A549	lung:	n/a	chr2:35392847-35392858
50	CEBPB	chr2:34793002-34793270	HepG2	liver:	n/a	chr2:34793159-34793170 chr2:34793159-34793172 chr2:34793160-34793171

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:34902113-34902163	PrEC	prostate:	n/a
2	chr2:34902113-34902163	PFSK-1	brain:	n/a
3	chr2:34902113-34902163	HCT-116	colon:	n/a
4	chr2:34902113-34902163	ovcar-3	ovarian:	n/a
5	chr2:34902113-34902163	HEEpiC	esophagus:	n/a
6	chr2:34902113-34902163	CMK	blood:	n/a
7	chr2:34852273-34852323	AG09319	gingival:	n/a
8	chr2:34902113-34902163	AG09319	gingival:	n/a
9	chr2:34852273-34852323	GM12878	blood:	n/a
10	chr2:34852273-34852323	HepG2	liver:	n/a
11	chr2:34852273-34852323	HRE	kidney:	n/a
12	chr2:34902113-34902163	AoSMC	blood vessel:	n/a
13	chr2:34852273-34852323	Hela-S3	cervix:	n/a
14	chr2:34902113-34902163	SKMC	muscle:	n/a
15	chr2:34852273-34852323	NT2-D1	testis:	n/a
16	chr2:34902113-34902163	LNCaP	prostate:	n/a
17	chr2:34852273-34852323	HAEpiC	amniotic membrane:	n/a
18	chr2:34902113-34902163	AG04450	lung:	fetal
19	chr2:34852273-34852323	BJ	skin:	n/a
20	chr2:34852273-34852323	SAEC	small airway:	n/a
21	chr2:34902113-34902163	MCF10A-Er-Src	breast:	n/a
22	chr2:34852273-34852323	ovcar-3	ovarian:	n/a
23	chr2:34852273-34852323	GM12892	blood:	n/a
24	chr2:34852273-34852323	T-47D	breast:	n/a
25	chr2:34902113-34902163	AG10803	skin:	n/a
26	chr2:34902113-34902163	AG09309	skin:	n/a
27	chr2:34902113-34902163	HepG2	liver:	n/a
28	chr2:34852273-34852323	HMEC	breast:	n/a
29	chr2:34902113-34902163	HAEpiC	amniotic membrane:	n/a
30	chr2:34852273-34852323	MCF-7	breast:	n/a
31	chr2:34852273-34852323	HRCEpiC	kidney:	n/a
32	chr2:34902113-34902163	Jurkat	blood:	n/a
33	chr2:34852273-34852323	ECC-1	luminal epithelium:	n/a
34	chr2:34902113-34902163	BJ	skin:	n/a
35	chr2:34852273-34852323	AG09309	skin:	n/a
36	chr2:34852273-34852323	A549	lung:	n/a
37	chr2:34852273-34852323	PFSK-1	brain:	n/a
38	chr2:34852273-34852323	HUVEC	blood vessel:	n/a
39	chr2:34902113-34902163	HCPEpiC	choroid plexus:	n/a
40	chr2:34902113-34902163	NB4	blood:	n/a
41	chr2:34902113-34902163	GM06990	blood:	n/a
42	chr2:34902113-34902163	BE2_C	brain:	n/a
43	chr2:34852273-34852323	HCF	heart:	n/a
44	chr2:34852273-34852323	NB4	blood:	n/a
45	chr2:34852273-34852323	Jurkat	blood:	n/a
46	chr2:34902113-34902163	HMEC	breast:	n/a
47	chr2:34902113-34902163	K562	blood:	n/a
48	chr2:34902113-34902163	Hepatocyte	liver:	n/a
49	chr2:34902113-34902163	HEK293	kidney:	embryo
50	chr2:34852273-34852323	GM12891	blood:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:35390044..35391720-chr2:35398125..35400924,2	K562	blood:
2	chr2:35322123..35325054-chr2:35336591..35340112,3	MCF-7	breast:
3	chr2:35390044..35391720-chr2:35398125..35400924,2	K562	blood:
4	chr2:35336496..35338395-chr2:35339571..35342545,2	MCF-7	breast:
5	chr2:35392713..35393658-chr2:35567942..35568821,2	MCF-7	breast:
6	chr2:35324525..35325781-chr2:35339538..35340526,4	MCF-7	breast:
7	chr2:35286578..35288607-chr2:35290647..35293256,2	K562	blood:
8	chr2:34321239..34322372-chr2:34772370..34773083,4	MCF-7	breast:
9	chr2:33906151..33906814-chr2:34795262..34796206,5	MCF-7	breast:
10	chr2:35124308..35126436-chr2:35127473..35129610,2	K562	blood:
11	chr2:35130281..35132812-chr2:35144803..35146892,2	K562	blood:
12	chr2:35336496..35338395-chr2:35339571..35342545,2	MCF-7	breast:
13	chr2:35130281..35132812-chr2:35144803..35146892,2	K562	blood:
14	chr2:35152123..35154075-chr2:35162750..35165499,2	K562	blood:
15	chr2:34929052..34931868-chr2:34933062..34935710,2	K562	blood:
16	chr2:35322123..35325054-chr2:35336591..35340112,3	MCF-7	breast:
17	chr2:35342917..35344665-chr2:35344772..35347578,2	MCF-7	breast:
18	chr2:35086981..35089694-chr2:35094487..35097235,2	K562	blood:
19	chr2:35049634..35051232-chr2:35070862..35073503,2	K562	blood:
20	chr2:35393099..35394069-chr2:35567966..35568823,5	MCF-7	breast:
21	chr2:35049634..35051232-chr2:35070862..35073503,2	K562	blood:
22	chr2:35006274..35008792-chr8:67342394..67345182,2	MCF-7	breast:
23	chr2:34237421..34238380-chr2:35339556..35340362,2	MCF-7	breast:
24	chr2:35385075..35387812-chr2:35387950..35390253,3	K562	blood:
25	chr2:35393157..35394354-chr2:35634679..35636139,8	MCF-7	breast:
26	chr17:76778253..76778888-chr2:34769758..34770277,2	MCF-7	breast:
27	chr2:35286578..35288607-chr2:35290647..35293256,2	K562	blood:
28	chr2:34795663..34796225-chr8:85142407..85143298,2	MCF-7	breast:
29	chr2:35230910..35232963-chr2:35235828..35238432,2	K562	blood:
30	chr2:35342917..35344665-chr2:35344772..35347578,2	MCF-7	breast:
31	chr2:34237681..34238401-chr2:34795339..34796232,5	MCF-7	breast:
32	chr2:34876891..34879240-chr2:34886043..34888561,2	K562	blood:
33	chr2:35393272..35393934-chr2:35653413..35654042,2	MCF-7	breast:
34	chr2:35230910..35232963-chr2:35235828..35238432,2	K562	blood:
35	chr2:35359597..35360193-chr6:115017299..115018148,2	MCF-7	breast:
36	chr2:34929052..34931868-chr2:34933062..34935710,2	K562	blood:
37	chr2:35152123..35154075-chr2:35162750..35165499,2	K562	blood:
38	chr2:35086981..35089694-chr2:35094487..35097235,2	K562	blood:
39	chr2:35130362..35133238-chr2:35148535..35150812,2	K562	blood:
40	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:
41	chr2:35324525..35325781-chr2:35339538..35340526,4	MCF-7	breast:
42	chr2:34237506..34238447-chr2:34795265..34796658,5	MCF-7	breast:
43	chr2:35385075..35387812-chr2:35387950..35390253,3	K562	blood:
44	chr2:34321381..34322557-chr2:34795669..34796275,5	MCF-7	breast:
45	chr2:34876891..34879240-chr2:34886043..34888561,2	K562	blood:
46	chr2:35130362..35133238-chr2:35148535..35150812,2	K562	blood:
47	chr2:35124308..35126436-chr2:35127473..35129610,2	K562	blood:

(count:104 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRIM1-1	chr2:35024917-35024966	XLOC_001425
2	lnc-RASGRP3-4	chr2:34938646-34938840	ENSG00000228262.4
3	lnc-CRIM1-1	chr2:35387997-35388125	ENSG00000226994.3
4	lnc-RASGRP3-14	chr2:34815892-34816802	NONHSAT070039
5	lnc-CRIM1-1	chr2:35384613-35385344	ENSG00000226994.3
6	lnc-RASGRP3-15	chr2:34878421-34878470	NONHSAT070041
7	lnc-CRIM1-1	chr2:35389194-35389308	ENSG00000226994.3
8	lnc-CRIM1-1	chr2:35387852-35387905	ENSG00000226994.3
9	lnc-CRIM1-1	chr2:35387997-35388125	ENSG00000226994.3
10	lnc-CRIM1-1	chr2:35397858-35398097	ENSG00000226994.3
11	lnc-RASGRP3-15	chr2:35237654-35237725	NONHSAT070041
12	lnc-RASGRP3-14	chr2:34792147-34792344	l_1807_chr2:34789043-34803561_liver
13	lnc-RASGRP3-14	chr2:34792161-34792344	NONHSAT070039
14	lnc-RASGRP3-4	chr2:34935519-34935571	NONHSAT070044
15	lnc-FAM98A-7	chr2:34823138-34823205	NONHSAT070038
16	lnc-RASGRP3-14	chr2:34811019-34811128	NONHSAT070039
17	lnc-CRIM1-1	chr2:35384150-35384830	ENSG00000226994.3
18	lnc-RASGRP3-4	chr2:34962388-34963298	ENSG00000228262
19	lnc-RASGRP3-4	chr2:34960145-34960753	ENSG00000228262.4
20	lnc-RASGRP3-3	chr2:34860316-34860407	ENSG00000226785
21	lnc-FAM98A-10	chr2:35034320-35034623	NONHSAT070053
22	lnc-RASGRP3-15	chr2:34909934-34910063	NONHSAT070041
23	lnc-RASGRP3-4	chr2:34962388-34962638	ENSG00000228262.4
24	lnc-RASGRP3-4	chr2:34957515-34957624	ENSG00000228262
25	lnc-CRIM1-1	chr2:35399595-35399715	ENSG00000226994.3
26	lnc-FAM98A-3	chr2:35224028-35224089	ENSG00000237320
27	lnc-RASGRP3-4	chr2:34962148-34962183	NONHSAT070048
28	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
29	lnc-CRIM1-1	chr2:35410303-35410755	ENSG00000226994.3
30	lnc-CRIM1-1	chr2:35387842-35387905	ENSG00000226994.3
31	lnc-RASGRP3-4	chr2:34947066-34947186	ENSG00000228262.4
32	lnc-RASGRP3-5	chr2:35041549-35041945	XLOC_001426
33	lnc-RASGRP3-4	chr2:34947066-34950118	NONHSAT070045
34	lnc-RASGRP3-5	chr2:35042159-35042319	XLOC_001426
35	lnc-RASGRP3-14	chr2:34756150-34756498	NONHSAT070037
36	lnc-CRIM1-1	chr2:35388867-35389031	ENSG00000226994.3
37	lnc-FAM98A-2	chr2:34960042-34960174	ENSG00000232153
38	lnc-RASGRP3-4	chr2:34947066-34947580	ENSG00000228262.4
39	lnc-CRIM1-1	chr2:35387997-35388125	ENSG00000226994.3
40	lnc-RASGRP3-4	chr2:34962172-34963510	NONHSAT070051
41	lnc-RASGRP3-4	chr2:34938657-34938840	ENSG00000228262
42	lnc-RASGRP3-4	chr2:34929778-34929989	ENSG00000228262.4
43	lnc-CRIM1-1	chr2:35387997-35388125	ENSG00000226994.3
44	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3
45	lnc-RASGRP3-4	chr2:34938646-34938840	NONHSAT070045
46	lnc-CRIM1-1	chr2:35387855-35387905	ENSG00000226994.3
47	lnc-CRIM1-1	chr2:35387842-35387905	ENSG00000226994.3
48	lnc-FAM98A-11	chr2:35077532-35077593	NONHSAT070061
49	lnc-RASGRP3-4	chr2:34978401-34978447	NONHSAT070051
50	lnc-CRIM1-1	chr2:35056445-35056559	ENSG00000226994.3

No data

Variant related genes	Relation type
ENSG00000272027	TF binding region
ENSG00000232153	TF binding region
ENSG00000237320	TF binding region
ENSG00000228262	TF binding region
ENSG00000226994	TF binding region
RN7SL602P	TF binding region
ENSG00000272027	CpG island
ENSG00000232153	CpG island
ENSG00000237320	CpG island
ENSG00000228262	CpG island
ENSG00000226994	CpG island
RN7SL602P	CpG island
ENSG00000228262	chromatin interactions
ENSG00000108669	chromatin interactions
ENSG00000147576	chromatin interactions
NAPEPLD	miRNA target sites
NAP1L1	miRNA target sites

Extended variants
information (count: 11022 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:11022 , 50 per page) page: 1 2 3 4 5 6 7 ... 221

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112442309	chr2:34744425-34744426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs546553749	chr2:34744463-34744464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs566964938	chr2:34744500-34744501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs77418119	chr2:34744514-34744515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs200456381	chr2:34744531-34744532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557453491	chr2:34744534-34744535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs555826856	chr2:34744557-34744558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs575389102	chr2:34744560-34744561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs143112295	chr2:34744580-34744581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs78143256	chr2:34744829-34744830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562097765	chr2:34744876-34744877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577974243	chr2:34744891-34744892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150134764	chr2:34744915-34744916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74656585	chr2:34744994-34744995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1519913	chr2:34745002-34745003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542401102	chr2:34745019-34745020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150529736	chr2:34745083-34745084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562584611	chr2:34745087-34745088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72872016	chr2:34745125-34745126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182781071	chr2:34745151-34745152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72788794	chr2:34745174-34745175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533404822	chr2:34745210-34745211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546592415	chr2:34745213-34745214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188094613	chr2:34745219-34745220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533391241	chr2:34745248-34745249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535833290	chr2:34745259-34745260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549239031	chr2:34745263-34745264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569306796	chr2:34745265-34745266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551769721	chr2:34745314-34745315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538055312	chr2:34745316-34745317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557945200	chr2:34745325-34745326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578002686	chr2:34745358-34745359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534131476	chr2:34745415-34745416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560582086	chr2:34745452-34745453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527740558	chr2:34745490-34745491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554027356	chr2:34745526-34745527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546776878	chr2:34745529-34745530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34339095	chr2:34745585-34745586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192906957	chr2:34745613-34745614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573592061	chr2:34745629-34745630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565213834	chr2:34745656-34745657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542582934	chr2:34745698-34745699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183031369	chr2:34745821-34745822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575695636	chr2:34745831-34745832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138694754	chr2:34745867-34745868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532428368	chr2:34745892-34745893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114019184	chr2:34745928-34745929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533345483	chr2:34745929-34745930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141280775	chr2:34745937-34745938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35457498	chr2:34749203-34749204	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34744400-34744600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:34744800-34746000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:34749200-34749600	Enhancers	NHEK	skin
4	chr2:34749200-34749800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:34752200-34752400	Enhancers	Fetal Kidney	kidney
6	chr2:34752400-34753200	Weak transcription	Fetal Kidney	kidney
7	chr2:34752800-34753200	Enhancers	Fetal Intestine Large	intestine
8	chr2:34753200-34753600	Enhancers	Fetal Intestine Small	intestine
9	chr2:34753200-34753600	Enhancers	Fetal Kidney	kidney
10	chr2:34753400-34753800	Enhancers	Fetal Intestine Large	intestine
11	chr2:34753600-34758800	Weak transcription	Fetal Kidney	kidney
12	chr2:34753600-34759000	Weak transcription	Fetal Intestine Small	intestine
13	chr2:34758800-34759200	Enhancers	Fetal Kidney	kidney
14	chr2:34758800-34760600	Enhancers	Fetal Lung	lung
15	chr2:34759000-34760600	Enhancers	Fetal Intestine Small	intestine
16	chr2:34759200-34759400	Weak transcription	Fetal Kidney	kidney
17	chr2:34759200-34761400	Enhancers	Fetal Intestine Large	intestine
18	chr2:34759400-34759800	Enhancers	Fetal Kidney	kidney
19	chr2:34761200-34761600	Enhancers	Pancreas	Pancrea
20	chr2:34770400-34771000	Enhancers	Fetal Muscle Trunk	muscle
21	chr2:34772200-34772400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:34772400-34773000	Enhancers	Pancreas	Pancrea
23	chr2:34772400-34774200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:34773000-34773400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:34774000-34775000	Enhancers	NHEK	skin
26	chr2:34774200-34775400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:34774200-34775400	Enhancers	HMEC	breast
28	chr2:34774400-34775000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:34775000-34775400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:34775000-34775400	Flanking Active TSS	NHEK	skin
31	chr2:34792200-34792600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:34809400-34810200	Enhancers	Fetal Lung	lung
33	chr2:34829200-34829600	Enhancers	Brain Germinal Matrix	brain
34	chr2:34829400-34829600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:34842200-34842800	Enhancers	Fetal Lung	lung
36	chr2:34860400-34861000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:34875600-34875800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:34881800-34882600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr2:34884400-34890200	Weak transcription	Right Atrium	heart
40	chr2:34885200-34885600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:34885800-34886200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:34885800-34886200	Enhancers	Fetal Lung	lung
43	chr2:34889000-34890600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:34890600-34892000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:34891600-34892400	Enhancers	Brain Germinal Matrix	brain
46	chr2:34892000-34892200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:34892200-34892600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:34892600-34893600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:34895400-34895600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:34901600-34902400	Enhancers	Liver	Liver

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