Variant report

Variant	nsv1001038
Chromosome Location	chr2:32333378-32657112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3955)
CpG islands
(count:3117)
Chromatin interactive
region (count:318)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:3955 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:32392464-32392760	K562	blood:	n/a	n/a
2	ARID3A	chr2:32502441-32503389	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:32360503-32360792	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:32390598-32391244	K562	blood:	n/a	n/a
5	ARID3A	chr2:32554120-32554721	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:32393621-32394178	K562	blood:	n/a	n/a
7	ARID3A	chr2:32457044-32457343	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:32389782-32389936	K562	blood:	n/a	n/a
9	ARID3A	chr2:32581536-32582419	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:32514272-32514602	HepG2	liver:	n/a	n/a
11	ARID3A	chr2:32581694-32582224	K562	blood:	n/a	n/a
12	ARID3A	chr2:32556387-32556700	HepG2	liver:	n/a	n/a
13	ARID3A	chr2:32499985-32499986	K562	blood:	n/a	n/a
14	ARID3A	chr2:32390529-32391251	HepG2	liver:	n/a	n/a
15	ARID3A	chr2:32360552-32360797	K562	blood:	n/a	n/a
16	ARID3A	chr2:32514236-32514609	K562	blood:	n/a	n/a
17	ARID3A	chr2:32490431-32491037	HepG2	liver:	n/a	n/a
18	ARID3A	chr2:32475495-32475784	HepG2	liver:	n/a	n/a
19	ARID3A	chr2:32586915-32587075	HepG2	liver:	n/a	n/a
20	ATF1	chr2:32581509-32582343	K562	blood:	n/a	n/a
21	ATF1	chr2:32390651-32391070	K562	blood:	n/a	n/a
22	ATF1	chr2:32514235-32514588	K562	blood:	n/a	n/a
23	ATF2	chr2:32581388-32582464	GM12878	blood:	n/a	n/a
24	ATF2	chr2:32390497-32390875	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr2:32414734-32415268	GM12878	blood:	n/a	n/a
26	ATF2	chr2:32414742-32415251	GM12878	blood:	n/a	n/a
27	ATF2	chr2:32581475-32581905	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr2:32581594-32582039	GM12878	blood:	n/a	n/a
29	ATF2	chr2:32390618-32391071	GM12878	blood:	n/a	n/a
30	ATF2	chr2:32390433-32391263	GM12878	blood:	n/a	n/a
31	ATF2	chr2:32502648-32503801	GM12878	blood:	n/a	n/a
32	ATF2	chr2:32585473-32585947	GM12878	blood:	n/a	n/a
33	ATF2	chr2:32390517-32391098	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF2	chr2:32582055-32582450	GM12878	blood:	n/a	n/a
35	ATF3	chr2:32397983-32398246	K562	blood:	n/a	n/a
36	ATF3	chr2:32581889-32582294	K562	blood:	n/a	n/a
37	ATF3	chr2:32390403-32391347	A549	lung:	n/a	n/a
38	ATF3	chr2:32581661-32582468	A549	lung:	n/a	n/a
39	ATF3	chr2:32360364-32360955	A549	lung:	n/a	n/a
40	ATF3	chr2:32581545-32582435	A549	lung:	n/a	n/a
41	ATF3	chr2:32390421-32391132	A549	lung:	n/a	n/a
42	ATF3	chr2:32581631-32582106	HepG2	liver:	n/a	n/a
43	ATF3	chr2:32581958-32582385	K562	blood:	n/a	n/a
44	ATF3	chr2:32360411-32360813	K562	blood:	n/a	n/a
45	BACH1	chr2:32391979-32392030	K562	blood:	n/a	n/a
46	BACH1	chr2:32391093-32391254	K562	blood:	n/a	n/a
47	BACH1	chr2:32581866-32582041	K562	blood:	n/a	n/a
48	BACH1	chr2:32581630-32582286	H1-hESC	embryonic stem cell:	n/a	n/a
49	BACH1	chr2:32390650-32391341	H1-hESC	embryonic stem cell:	n/a	n/a
50	BACH1	chr2:32503437-32503543	H1-hESC	embryonic stem cell:	n/a	n/a

(count:3117 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:32582034-32582084	AG10803	skin:	n/a
2	chr2:32485895-32485945	AoSMC	blood vessel:	n/a
3	chr2:32485895-32485945	NHDF-neo	bronchial:	n/a
4	chr2:32581594-32581644	GM06990	blood:	n/a
5	chr2:32578646-32578696	HRE	kidney:	n/a
6	chr2:32578646-32578696	HUVEC	blood vessel:	n/a
7	chr2:32582034-32582084	AG10803	skin:	n/a
8	chr2:32485895-32485945	AoSMC	blood vessel:	n/a
9	chr2:32485895-32485945	NHDF-neo	bronchial:	n/a
10	chr2:32581594-32581644	GM06990	blood:	n/a
11	chr2:32578646-32578696	HRE	kidney:	n/a
12	chr2:32578646-32578696	HUVEC	blood vessel:	n/a
13	chr2:32464513-32464563	PFSK-1	brain:	n/a
14	chr2:32490766-32490816	ECC-1	luminal epithelium:	n/a
15	chr2:32583183-32583233	MCF10A-Er-Src	breast:	n/a
16	chr2:32581937-32581987	AG10803	skin:	n/a
17	chr2:32390937-32390987	HUVEC	blood vessel:	n/a
18	chr2:32502781-32502831	CMK	blood:	n/a
19	chr2:32391035-32391085	HRCEpiC	kidney:	n/a
20	chr2:32519464-32519514	GM12891	blood:	n/a
21	chr2:32502699-32502749	BE2_C	brain:	n/a
22	chr2:32581942-32581992	Caco-2	colon:	n/a
23	chr2:32390791-32390841	HRCEpiC	kidney:	n/a
24	chr2:32502781-32502831	AG09319	gingival:	n/a
25	chr2:32390791-32390841	HPAEpiC	pulmonary alveolar:	n/a
26	chr2:32519464-32519514	AG09309	skin:	n/a
27	chr2:32587004-32587054	HNPCEpiC	eye:	n/a
28	chr2:32391035-32391085	PANC-1	pancreas:	n/a
29	chr2:32464513-32464563	H1-hESC	embryonic stem cell:	embryo
30	chr2:32581594-32581644	HepG2	liver:	n/a
31	chr2:32581948-32581998	RPTEC	kidney:	n/a
32	chr2:32578646-32578696	PANC-1	pancreas:	n/a
33	chr2:32519464-32519514	HUVEC	blood vessel:	n/a
34	chr2:32449528-32449578	RPTEC	kidney:	n/a
35	chr2:32583183-32583233	BJ	skin:	n/a
36	chr2:32503023-32503073	SK-N-MC	brain:	n/a
37	chr2:32490766-32490816	Hela-S3	cervix:	n/a
38	chr2:32503081-32503131	HL-60	blood:	n/a
39	chr2:32491994-32492044	U87	brain:	n/a
40	chr2:32502924-32502974	SKMC	muscle:	n/a
41	chr2:32581747-32581797	NH-A	brain:	n/a
42	chr2:32502781-32502831	AoSMC	blood vessel:	n/a
43	chr2:32502781-32502831	SAEC	small airway:	n/a
44	chr2:32502794-32502844	BE2_C	brain:	n/a
45	chr2:32581948-32581998	HCM	heart:	n/a
46	chr2:32514311-32514361	AG04449	skin:	fetal
47	chr2:32581711-32581761	AG04449	skin:	fetal
48	chr2:32503023-32503073	SKMC	muscle:	n/a
49	chr2:32391091-32391141	HMEC	breast:	n/a
50	chr2:32465387-32465437	HRE	kidney:	n/a

(count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr2:32286352..32290626-chr2:32388602..32393371,12	K562	blood:
2	chr2:32536114..32538190-chr2:32545833..32547499,2	MCF-7	breast:
3	chr2:32389277..32392458-chr2:32500839..32506003,6	K562	blood:
4	chr2:32588487..32591521-chr2:32595095..32597931,3	K562	blood:
5	chr2:32473322..32475568-chr2:32480051..32482109,2	K562	blood:
6	chr2:32388385..32389940-chr2:32579717..32581806,2	K562	blood:
7	chr2:32389104..32394341-chr2:32415587..32422183,9	K562	blood:
8	chr2:32631333..32634011-chr2:32636154..32637762,2	K562	blood:
9	chr2:32443634..32446548-chr2:32446914..32449802,2	K562	blood:
10	chr2:32610767..32613697-chr2:32614273..32617058,2	MCF-7	breast:
11	chr2:32490466..32494039-chr2:32501355..32504337,3	K562	blood:
12	chr2:32531197..32533146-chr2:32542840..32545023,2	K562	blood:
13	chr2:32490466..32494039-chr2:32501355..32504337,3	K562	blood:
14	chr2:32389277..32392458-chr2:32500839..32506003,6	K562	blood:
15	chr2:32451081..32452778-chr2:32461639..32463751,2	K562	blood:
16	chr2:32582832..32585768-chr2:32608002..32610374,2	K562	blood:
17	chr2:32494341..32496425-chr2:32501877..32504469,2	K562	blood:
18	chr2:32419509..32422064-chr2:32580659..32583571,2	K562	blood:
19	chr2:32465425..32467029-chr2:32470034..32472157,2	K562	blood:
20	chr2:32395858..32398697-chr2:32406981..32409057,2	K562	blood:
21	chr2:32347290..32350052-chr2:32351484..32354177,3	K562	blood:
22	chr2:32287339..32289467-chr2:32389793..32392170,2	MCF-7	breast:
23	chr2:32064343..32066158-chr2:32576935..32579070,2	K562	blood:
24	chr2:32368464..32370560-chr2:32386203..32388440,2	K562	blood:
25	chr2:32634859..32637266-chr2:32638497..32641278,2	MCF-7	breast:
26	chr2:32388347..32391315-chr6:27100140..27102328,2	MCF-7	breast:
27	chr2:32490282..32492408-chr2:32501487..32503465,3	MCF-7	breast:
28	chr2:32580250..32582007-chr9:22237411..22239616,2	MCF-7	breast:
29	chr2:32347290..32350643-chr2:32351484..32354177,5	K562	blood:
30	chr2:32462083..32465466-chr2:32467498..32469177,3	K562	blood:
31	chr2:32496345..32498721-chr2:32512655..32514549,2	K562	blood:
32	chr2:32470343..32473625-chr2:32476011..32478727,4	K562	blood:
33	chr2:32372239..32374198-chr2:32394451..32396644,2	K562	blood:
34	chr2:32449383..32451061-chr2:32453847..32456316,2	K562	blood:
35	chr2:32421689..32424456-chr2:32502727..32505231,2	K562	blood:
36	chr2:32494341..32496938-chr2:32500928..32503377,2	K562	blood:
37	chr2:32459736..32462357-chr2:32463296..32464848,2	K562	blood:
38	chr2:32507841..32511322-chr2:32512913..32517224,5	K562	blood:
39	chr2:32241277..32243768-chr2:32387990..32389632,2	K562	blood:
40	chr2:32389694..32394396-chr2:32399001..32405946,7	MCF-7	breast:
41	chr2:32581681..32582542-chr3:49058431..49058996,2	Hela-S3	cervix:
42	chr2:32648680..32650262-chr2:32651820..32653321,2	MCF-7	breast:
43	chr2:32367367..32371154-chr2:32378343..32385071,6	K562	blood:
44	chr2:32462083..32465466-chr2:32467498..32469177,3	K562	blood:
45	chr2:32510440..32512510-chr2:32580410..32583301,2	MCF-7	breast:
46	chr10:60027551..60028378-chr2:32581609..32582155,2	Hela-S3	cervix:
47	chr2:32362664..32364966-chr2:32389638..32391617,2	MCF-7	breast:
48	chr2:32389554..32392217-chr2:32429734..32432674,3	K562	blood:
49	chr2:32611734..32613914-chr2:32643255..32645038,2	K562	blood:
50	chr2:32445227..32449129-chr2:32451328..32453997,4	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NLRC4-3	chr2:32390115-32390826	ENSG00000272716.1
2	lnc-NLRC4-1	chr2:32602699-32602747	ENSG00000230046.1
3	lnc-YIPF4-1	chr2:32534100-32537281	XLOC_001417
4	lnc-NLRC4-3	chr2:32390542-32390783	NONHSAT069968
5	lnc-NLRC4-2	chr2:32435291-32436600	ncRnaDb_ncrna_FR119451_1
6	lnc-YIPF4-1	chr2:32538713-32538803	XLOC_001417
7	lnc-SPAST-1	chr2:32426669-32429068	NONHSAT069969
8	lnc-NLRC4-1	chr2:32604020-32604667	ENSG00000230046.1

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SPAST	hsa-miR-132-3p	chr2:32380368-32380375
2	SLC30A6	hsa-let-7d-5p	chr2:32448665-32448672
3	SPAST	hsa-miR-132-3p	chr2:32380354-32380375
4	SLC30A6	hsa-miR-196a-5p	chr2:32448664-32448670

Variant related genes	Relation type
BIRC6-AS1	TF binding region
YIPF4	TF binding region
ENSG00000272754	TF binding region
ENSG00000272716	TF binding region
RNU6-647P	TF binding region
SLC30A6	TF binding region
DDX50P1	TF binding region
BIRC6	TF binding region
NLRC4	TF binding region
BIRC6-AS1	CpG island
YIPF4	CpG island
ENSG00000272754	CpG island
ENSG00000272716	CpG island
RNU6-647P	CpG island
SLC30A6	CpG island
DDX50P1	CpG island
BIRC6	CpG island
NLRC4	CpG island
ENSG00000229816	chromatin interactions
ENSG00000123472	chromatin interactions
ENSG00000100462	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000272716	chromatin interactions
ENSG00000272754	chromatin interactions
ENSG00000184557	chromatin interactions
ENSG00000230046	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000171161	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000162961	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000162959	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000021574	chromatin interactions
ENSG00000185950	chromatin interactions
ENSG00000119820	chromatin interactions
ENSG00000091106	chromatin interactions
ENSG00000152683	chromatin interactions
ENSG00000173894	chromatin interactions
ENSG00000048828	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000151151	chromatin interactions
ENSG00000169710	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000138074	chromatin interactions
ENSG00000138085	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000068308	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000134333	chromatin interactions
ENSG00000188938	chromatin interactions
ENSG00000115760	chromatin interactions
ENSG00000127080	chromatin interactions
KRAS	miRNA target sites
SYMPK	miRNA target sites

Extended variants
information (count: 13214 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:13214 , 50 per page) page: 1 2 3 4 5 6 7 ... 265

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190997478	chr2:32333422-32333423	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565500003	chr2:32333433-32333434	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375345682	chr2:32333438-32333439	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534513534	chr2:32333458-32333459	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538235329	chr2:32333478-32333479	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180822644	chr2:32333487-32333488	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370239736	chr2:32333504-32333505	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574463804	chr2:32333531-32333532	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185805633	chr2:32333580-32333581	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556661396	chr2:32333589-32333590	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201976594	chr2:32333593-32333594	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546509331	chr2:32333602-32333603	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560097232	chr2:32333607-32333608	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182776329	chr2:32333615-32333616	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573425877	chr2:32333656-32333657	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551663480	chr2:32333660-32333661	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78140227	chr2:32333709-32333710	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190631593	chr2:32333720-32333721	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376242479	chr2:32333766-32333767	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551103797	chr2:32333767-32333768	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564316609	chr2:32333816-32333817	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71407413	chr2:32333827-32333828	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143314223	chr2:32333828-32333829	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368451712	chr2:32333852-32333853	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7559964	chr2:32333866-32333867	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552008583	chr2:32333873-32333874	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183143077	chr2:32333883-32333884	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534476449	chr2:32333898-32333899	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557867974	chr2:32333901-32333902	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187842271	chr2:32333957-32333958	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193034385	chr2:32333959-32333960	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7587042	chr2:32333977-32333978	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184130580	chr2:32333988-32333989	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570310326	chr2:32333998-32333999	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187445281	chr2:32334002-32334003	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553672632	chr2:32334025-32334026	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377648603	chr2:32334035-32334036	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112159837	chr2:32334069-32334070	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542570801	chr2:32334084-32334085	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555682192	chr2:32334105-32334106	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575837393	chr2:32334142-32334143	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544341246	chr2:32334149-32334150	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572995151	chr2:32334172-32334173	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192736495	chr2:32334199-32334200	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200059279	chr2:32334221-32334222	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540248990	chr2:32334233-32334234	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560148672	chr2:32334248-32334249	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369777799	chr2:32334252-32334253	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146831889	chr2:32334280-32334281	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184705118	chr2:32334281-32334282	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	22549408	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:8137 , 50 per page) page: 1 2 3 4 5 6 7 ... 163

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32290400-32353400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:32292000-32343200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:32292600-32353800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:32295800-32353800	Weak transcription	Fetal Brain Male	brain
5	chr2:32296400-32362600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:32297600-32360600	Weak transcription	Osteobl	bone
7	chr2:32298800-32341400	Weak transcription	Small Intestine	intestine
8	chr2:32300000-32339600	Weak transcription	HepG2	liver
9	chr2:32309800-32381200	Weak transcription	NHDF-Ad	bronchial
10	chr2:32313200-32360600	Weak transcription	NH-A	brain
11	chr2:32316000-32353600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:32316200-32343200	Weak transcription	HSMM	muscle
13	chr2:32322200-32353400	Weak transcription	K562	blood
14	chr2:32325400-32353800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:32326000-32352200	Weak transcription	HSMMtube	muscle
16	chr2:32330200-32333400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr2:32330200-32333600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:32330200-32333600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:32330200-32334000	Strong transcription	Fetal Thymus	thymus
20	chr2:32330400-32333400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr2:32330400-32333600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:32330400-32333600	Strong transcription	Primary B cells from cord blood	blood
23	chr2:32330400-32333800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:32330400-32334000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:32330800-32334400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr2:32330800-32334400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr2:32331200-32341000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:32331200-32370000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:32331400-32341200	Weak transcription	Stomach Mucosa	stomach
30	chr2:32331400-32368600	Weak transcription	Psoas Muscle	Psoas
31	chr2:32331400-32370000	Weak transcription	Right Ventricle	heart
32	chr2:32331600-32334000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:32331600-32334200	Strong transcription	Fetal Intestine Large	intestine
34	chr2:32331600-32334200	Strong transcription	Dnd41	blood
35	chr2:32331600-32338800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:32331600-32341000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:32331600-32341600	Weak transcription	Aorta	Aorta
38	chr2:32331600-32341600	Weak transcription	Esophagus	oesophagus
39	chr2:32331600-32343600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:32331600-32343600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:32331600-32344000	Weak transcription	Brain Angular Gyrus	brain
42	chr2:32331600-32353600	Weak transcription	Brain Substantia Nigra	brain
43	chr2:32331600-32353600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:32331600-32353800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:32331600-32353800	Weak transcription	Brain Anterior Caudate	brain
46	chr2:32331600-32354400	Weak transcription	Colonic Mucosa	Colon
47	chr2:32331600-32354600	Weak transcription	Spleen	Spleen
48	chr2:32331600-32377400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:32331600-32390200	Weak transcription	Gastric	stomach
50	chr2:32331600-32390200	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links