Variant report

Variant	nsv581277
Chromosome Location	chr2:32633690-33328394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6646)
CpG islands
(count:3845)
Chromatin interactive
region (count:515)
LncRNA
region (count:107)
Mature miRNA
region (count: 2)
miRNA target
sites (count:7)

(count:6646 , 50 per page) page: 1 2 3 4 5 6 7 ... 133

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:33119076-33119529	K562	blood:	n/a	n/a
2	ARID3A	chr2:33244964-33245164	K562	blood:	n/a	n/a
3	ARID3A	chr2:33171330-33171675	K562	blood:	n/a	n/a
4	ARID3A	chr2:33289402-33289458	K562	blood:	n/a	n/a
5	ARID3A	chr2:33190665-33190848	K562	blood:	n/a	n/a
6	ARID3A	chr2:32678784-32679113	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:33175022-33175445	K562	blood:	n/a	n/a
8	ARID3A	chr2:33248405-33248594	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:33226994-33227246	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:32858261-32858418	K562	blood:	n/a	n/a
11	ARID3A	chr2:33141143-33141554	HepG2	liver:	n/a	n/a
12	ARID3A	chr2:32815131-32815135	K562	blood:	n/a	n/a
13	ARID3A	chr2:32704957-32705557	K562	blood:	n/a	n/a
14	ARID3A	chr2:33285574-33285673	K562	blood:	n/a	n/a
15	ARID3A	chr2:33287152-33287157	K562	blood:	n/a	n/a
16	ARID3A	chr2:32852895-32853266	HepG2	liver:	n/a	n/a
17	ARID3A	chr2:33030069-33030809	HepG2	liver:	n/a	n/a
18	ARID3A	chr2:32993323-32994137	K562	blood:	n/a	n/a
19	ARID3A	chr2:33002613-33003226	HepG2	liver:	n/a	n/a
20	ARID3A	chr2:32816899-32817528	K562	blood:	n/a	n/a
21	ARID3A	chr2:32946460-32946757	K562	blood:	n/a	n/a
22	ARID3A	chr2:32667025-32667589	HepG2	liver:	n/a	chr2:32667295-32667311
23	ARID3A	chr2:33058909-33059022	K562	blood:	n/a	n/a
24	ARID3A	chr2:33185346-33186670	K562	blood:	n/a	n/a
25	ARID3A	chr2:33181117-33181278	K562	blood:	n/a	n/a
26	ARID3A	chr2:33247797-33249376	K562	blood:	n/a	chr2:33248889-33248905
27	ARID3A	chr2:32857326-32857639	K562	blood:	n/a	n/a
28	ARID3A	chr2:33258718-33258942	K562	blood:	n/a	n/a
29	ATF1	chr2:33244969-33245176	K562	blood:	n/a	n/a
30	ATF1	chr2:32993451-32993906	K562	blood:	n/a	n/a
31	ATF1	chr2:33171355-33172083	K562	blood:	n/a	chr2:33171922-33171936
32	ATF1	chr2:32872262-32872524	K562	blood:	n/a	n/a
33	ATF1	chr2:33058786-33059089	K562	blood:	n/a	n/a
34	ATF1	chr2:32783652-32783878	K562	blood:	n/a	n/a
35	ATF1	chr2:33175066-33175451	K562	blood:	n/a	n/a
36	ATF1	chr2:33185637-33186428	K562	blood:	n/a	n/a
37	ATF1	chr2:32710011-32710380	K562	blood:	n/a	n/a
38	ATF1	chr2:33294897-33295215	K562	blood:	n/a	n/a
39	ATF1	chr2:33158402-33158866	K562	blood:	n/a	n/a
40	ATF1	chr2:32836490-32836739	K562	blood:	n/a	n/a
41	ATF1	chr2:33119131-33119514	K562	blood:	n/a	n/a
42	ATF1	chr2:32946452-32946958	K562	blood:	n/a	n/a
43	ATF1	chr2:32661286-32661606	K562	blood:	n/a	n/a
44	ATF1	chr2:33248183-33248687	K562	blood:	n/a	n/a
45	ATF1	chr2:33296225-33296352	K562	blood:	n/a	n/a
46	ATF1	chr2:33062116-33062407	K562	blood:	n/a	n/a
47	ATF1	chr2:32817084-32817526	K562	blood:	n/a	n/a
48	ATF1	chr2:33246713-33247139	K562	blood:	n/a	n/a
49	ATF1	chr2:33090668-33091073	K562	blood:	n/a	n/a
50	ATF2	chr2:33136004-33136429	GM12878	blood:	n/a	n/a

(count:3845 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:33172444-33172494	HL-60	blood:	n/a
2	chr2:32853039-32853089	HRCEpiC	kidney:	n/a
3	chr2:33172444-33172494	HL-60	blood:	n/a
4	chr2:32853039-32853089	HRCEpiC	kidney:	n/a
5	chr2:32956589-32956639	GM12891	blood:	n/a
6	chr2:32852828-32852878	AG09309	skin:	n/a
7	chr2:33110986-33111036	NB4	blood:	n/a
8	chr2:32853039-32853089	HL-60	blood:	n/a
9	chr2:32853229-32853279	NHDF-neo	bronchial:	n/a
10	chr2:32678846-32678896	GM12891	blood:	n/a
11	chr2:33172444-33172494	SK-N-SH_RA	brain:	n/a
12	chr2:32852965-32853015	HCM	heart:	n/a
13	chr2:33110871-33110921	HEEpiC	esophagus:	n/a
14	chr2:33050475-33050525	HRCEpiC	kidney:	n/a
15	chr2:32757069-32757119	NB4	blood:	n/a
16	chr2:33282816-33282866	NT2-D1	testis:	n/a
17	chr2:33111822-33111872	BJ	skin:	n/a
18	chr2:32853008-32853058	LNCaP	prostate:	n/a
19	chr2:32853229-32853279	HAEpiC	amniotic membrane:	n/a
20	chr2:33249103-33249153	HCT-116	colon:	n/a
21	chr2:32853069-32853119	LNCaP	prostate:	n/a
22	chr2:32980137-32980187	U87	brain:	n/a
23	chr2:33226136-33226186	SKMC	muscle:	n/a
24	chr2:33152037-33152087	Caco-2	colon:	n/a
25	chr2:33282816-33282866	HRE	kidney:	n/a
26	chr2:33175761-33175811	HAEpiC	amniotic membrane:	n/a
27	chr2:33245988-33246038	GM12892	blood:	n/a
28	chr2:32852292-32852342	AG04450	lung:	fetal
29	chr2:33226136-33226186	HMEC	breast:	n/a
30	chr2:33183321-33183371	GM06990	blood:	n/a
31	chr2:33110986-33111036	NHDF-neo	bronchial:	n/a
32	chr2:33172444-33172494	NB4	blood:	n/a
33	chr2:32905314-32905364	ovcar-3	ovarian:	n/a
34	chr2:33173301-33173351	GM06990	blood:	n/a
35	chr2:32852828-32852878	NT2-D1	testis:	n/a
36	chr2:33151749-33151799	PFSK-1	brain:	n/a
37	chr2:33171699-33171749	PFSK-1	brain:	n/a
38	chr2:33150993-33151043	GM12891	blood:	n/a
39	chr2:33282816-33282866	GM19239	blood:	n/a
40	chr2:33049885-33049935	HUVEC	blood vessel:	n/a
41	chr2:33173163-33173213	ProgFib	skin:	n/a
42	chr2:33171784-33171834	MCF-7	breast:	n/a
43	chr2:32757307-32757357	AG04450	lung:	fetal
44	chr2:32853039-32853089	AoSMC	blood vessel:	n/a
45	chr2:33183321-33183371	HCM	heart:	n/a
46	chr2:33050369-33050419	AG09309	skin:	n/a
47	chr2:33249103-33249153	AG10803	skin:	n/a
48	chr2:32757069-32757119	AG04450	lung:	fetal
49	chr2:33295138-33295188	HPAEpiC	pulmonary alveolar:	n/a
50	chr2:33157742-33157792	BE2_C	brain:	n/a

(count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Distal block	Cell Line	Cell type
1	chr2:32772967..32775818-chr2:32777845..32779821,2	K562	blood:
2	chr2:32827771..32830524-chr2:32832345..32835314,2	MCF-7	breast:
3	chr2:32753629..32756308-chr2:32762346..32764743,2	MCF-7	breast:
4	chr2:32827862..32829932-chr2:32841650..32843920,2	K562	blood:
5	chr2:33294735..33295813-chr2:33311218..33312090,5	MCF-7	breast:
6	chr2:32631333..32634011-chr2:32636154..32637762,2	K562	blood:
7	chr2:32584914..32587228-chr2:32703630..32705353,2	K562	blood:
8	chr2:32769209..32771746-chr2:32772996..32775659,2	K562	blood:
9	chr2:33275820..33277562-chr2:33294369..33297185,2	MCF-7	breast:
10	chr2:33048845..33051339-chr2:33170964..33173709,2	MCF-7	breast:
11	chr2:33047456..33049572-chr2:33059264..33061009,2	K562	blood:
12	chr2:33030285..33032315-chr2:33034314..33037985,3	MCF-7	breast:
13	chr2:32642567..32646471-chr2:32648839..32652679,3	K562	blood:
14	chr2:33293451..33296755-chr2:33301954..33305143,4	MCF-7	breast:
15	chr2:32947177..32949631-chr2:32971660..32974311,2	K562	blood:
16	chr2:33170502..33173582-chr2:33291502..33297782,11	MCF-7	breast:
17	chr2:33175858..33177489-chr2:33179625..33181642,2	K562	blood:
18	chr2:33005029..33007920-chr2:33171660..33173627,3	MCF-7	breast:
19	chr2:33234584..33236768-chr2:33238691..33241216,2	K562	blood:
20	chr2:33170909..33171727-chr2:33294922..33295425,2	MCF-7	breast:
21	chr2:32988820..32990654-chr2:32992248..32994627,2	K562	blood:
22	chr2:32851150..32855956-chr2:32860163..32864555,5	K562	blood:
23	chr2:32876256..32879543-chr2:32883441..32885637,3	MCF-7	breast:
24	chr2:33325664..33327642-chr2:33328388..33329926,2	K562	blood:
25	chr2:32900563..32903337-chr2:32907428..32909119,2	K562	blood:
26	chr2:33150931..33160900-chr2:33168197..33175250,9	K562	blood:
27	chr2:33028721..33031783-chr2:33036094..33038585,3	MCF-7	breast:
28	chr2:32638863..32640718-chr2:32652115..32654346,2	MCF-7	breast:
29	chr2:33001090..33004313-chr2:33170571..33173940,5	MCF-7	breast:
30	chr2:33030285..33032315-chr2:33034314..33037985,3	MCF-7	breast:
31	chr2:32651894..32653691-chr2:32654473..32656959,2	K562	blood:
32	chr2:32628910..32631702-chr2:32651764..32653919,2	MCF-7	breast:
33	chr2:32819157..32822664-chr2:32823395..32826868,4	K562	blood:
34	chr2:32857206..32858906-chr2:32863205..32865583,2	K562	blood:
35	chr2:32813947..32816533-chr2:32819308..32821905,2	MCF-7	breast:
36	chr2:32743662..32746182-chr2:32748027..32749842,2	K562	blood:
37	chr2:33157825..33160545-chr2:33170089..33174835,4	MCF-7	breast:
38	chr2:33236766..33239926-chr2:33243228..33245215,3	MCF-7	breast:
39	chr2:33163063..33165804-chr2:33184486..33186000,2	K562	blood:
40	chr2:32710721..32712306-chr2:32712654..32714495,2	MCF-7	breast:
41	chr2:32843739..32845990-chr2:32848491..32850530,2	MCF-7	breast:
42	chr2:32839933..32841483-chr2:32843179..32845147,2	K562	blood:
43	chr2:33047456..33049572-chr2:33059264..33061009,2	K562	blood:
44	chr2:33315357..33320010-chr2:33321376..33324681,5	K562	blood:
45	chr2:33007473..33009437-chr2:33256650..33259551,2	K562	blood:
46	chr2:32998266..32999836-chr2:33000625..33002335,2	MCF-7	breast:
47	chr2:32813947..32816533-chr2:32819308..32821905,2	MCF-7	breast:
48	chr2:32795969..32798734-chr2:32800957..32802571,2	MCF-7	breast:
49	chr2:32935170..32937376-chr2:32967201..32969754,2	MCF-7	breast:
50	chr2:32638863..32640718-chr2:32652115..32654346,2	MCF-7	breast:

(count:107 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC27-1	chr2:33170294-33171202	NONHSAT070004
2	lnc-TTC27-1	chr2:33107766-33107893	NONHSAT069999
3	lnc-TTC27-1	chr2:33127130-33127190	ENSG00000230876
4	lnc-TTC27-1	chr2:33050394-33050577	XLOC_001418
5	lnc-TTC27-1	chr2:33153303-33153472	XLOC_001418
6	lnc-TTC27-1	chr2:33107766-33107893	XLOC_001418
7	lnc-BIRC6-1	chr2:32919585-32919804	NONHSAT069987
8	lnc-TTC27-1	chr2:33050510-33050577	XLOC_001418
9	lnc-TTC27-1	chr2:33107994-33108117	XLOC_001418
10	lnc-BIRC6-1	chr2:32980634-32980694	NONHSAT069988
11	lnc-TTC27-1	chr2:33107766-33107893	XLOC_001418
12	lnc-TTC27-1	chr2:33153303-33153472	XLOC_001418
13	lnc-TTC27-1	chr2:33062378-33062472	XLOC_001418
14	lnc-TTC27-1	chr2:33152163-33153190	XLOC_001418
15	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
16	lnc-BIRC6-1	chr2:32961498-32961621	NONHSAT069987
17	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
18	lnc-TTC27-1	chr2:33121992-33122046	ENSG00000230876
19	lnc-TTC27-1	chr2:33153303-33153472	NONHSAT070004
20	lnc-TTC27-1	chr2:33153303-33153581	XLOC_001418
21	lnc-TTC27-1	chr2:33152163-33152729	XLOC_001418
22	lnc-TTC27-1	chr2:33061641-33061801	XLOC_001418
23	lnc-TTC27-1	chr2:33065837-33065996	XLOC_001418
24	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
25	lnc-TTC27-1	chr2:33162095-33162195	XLOC_001418
26	lnc-BIRC6-2	chr2:33006603-33006694	NONHSAT069989
27	lnc-TTC27-1	chr2:33066081-33066300	XLOC_001418
28	lnc-BIRC6-2	chr2:33005698-33005917	NONHSAT069989
29	lnc-BIRC6-1	chr2:32961372-32961397	NONHSAT069988
30	lnc-BIRC6-1	chr2:33003924-33005264	NONHSAT069986
31	lnc-BIRC6-2	chr2:33005698-33005917	ucscGeneNc_uc002ror_2
32	lnc-TTC27-1	chr2:33152179-33152729	NONHSAT070002
33	lnc-TTC27-1	chr2:33153303-33153472	XLOC_001418
34	lnc-BIRC6-1	chr2:32975496-32975551	NONHSAT069987
35	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
36	lnc-TTC27-1	chr2:33152179-33152413	NONHSAT070003
37	lnc-TTC27-1	chr2:33152194-33152413	XLOC_001418
38	lnc-BIRC6-1	chr2:32904014-32904081	NONHSAT069986
39	lnc-TTC27-1	chr2:33152194-33152413	XLOC_001418
40	lnc-TTC27-1	chr2:33107994-33108117	ENSG00000230876
41	lnc-TTC27-1	chr2:33050496-33050577	XLOC_001418
42	lnc-TTC27-1	chr2:33153099-33153190	XLOC_001418
43	lnc-TTC27-1	chr2:33062378-33062472	XLOC_001418
44	lnc-TTC27-1	chr2:33066080-33066300	XLOC_001418
45	lnc-BIRC6-1	chr2:32977111-32977213	NONHSAT069988
46	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
47	lnc-TTC27-1	chr2:33065837-33066300	XLOC_001418
48	lnc-TTC27-1	chr2:33150420-33151756	XLOC_001418
49	lnc-TTC27-1	chr2:33154006-33154206	XLOC_001418
50	lnc-TTC27-1	chr2:33107766-33107893	XLOC_001418

miRNA name	Chromosome Location	mirBase accession
hsa-miR-558	chr2:32757280-32757298	MIMAT0003222
hsa-miR-4765	chr2:32860367-32860388	MIMAT0019916

(count:7 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	BIRC6	hsa-miR-34a-5p	chr2:32843220-32843241
2	BIRC6	hsa-miR-218-5p	chr2:32843010-32843017
3	BIRC6	hsa-let-7b-5p	chr2:32843237-32843260
4	BIRC6	hsa-let-7a-5p	chr2:32843237-32843260
5	BIRC6	hsa-miR-218-5p	chr2:32842996-32843017
6	BIRC6	hsa-let-7b-5p	chr2:32843468-32843490
7	BIRC6	hsa-let-7a-5p	chr2:32843468-32843490

Variant related genes	Relation type
MIR558	TF binding region
MIR4765	TF binding region
ENSG00000252502	TF binding region
ENSG00000223951	TF binding region
LTBP1	TF binding region
LINC00486	TF binding region
ENSG00000236854	TF binding region
TTC27	TF binding region
BIRC6	TF binding region
ENSG00000206951	TF binding region
MIR558	CpG island
MIR4765	CpG island
ENSG00000252502	CpG island
ENSG00000223951	CpG island
LTBP1	CpG island
LINC00486	CpG island
ENSG00000236854	CpG island
TTC27	CpG island
BIRC6	CpG island
ENSG00000206951	CpG island
ENSG00000108443	chromatin interactions
ENSG00000223951	chromatin interactions
ENSG00000230876	chromatin interactions
ENSG00000267416	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000272716	chromatin interactions
ENSG00000169764	chromatin interactions
ENSG00000049323	chromatin interactions
ENSG00000152683	chromatin interactions
ENSG00000185608	chromatin interactions
ENSG00000265057	chromatin interactions
ENSG00000018699	chromatin interactions
ENSG00000115760	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000236854	chromatin interactions
ENSG00000206951	chromatin interactions
CCDC117	miRNA target sites
CCDC28A	miRNA target sites
POGLUT1	miRNA target sites
MBNL3	miRNA target sites
REST	miRNA target sites
FOXG1	miRNA target sites
RFFL	miRNA target sites
POGK	miRNA target sites
MRPL19	miRNA target sites
MBTD1	miRNA target sites
RET	miRNA target sites
GATAD2B	miRNA target sites
POGZ	miRNA target sites
HMGA2	miRNA target sites
CCDC19	miRNA target sites
REV3L	miRNA target sites
RFX1	miRNA target sites
CCDC165	miRNA target sites

Extended variants
information (count: 28028 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:28028 , 50 per page) page: 1 2 3 4 5 6 7 ... 561

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7609320	chr2:32633690-32633691	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572354327	chr2:32633739-32633740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74757631	chr2:32633747-32633748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572828251	chr2:32633788-32633789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183425540	chr2:32633818-32633819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573855531	chr2:32633860-32633861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542875909	chr2:32633873-32633874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562558934	chr2:32633896-32633897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58043082	chr2:32633925-32633926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554200090	chr2:32634020-32634021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575192822	chr2:32634118-32634119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186378608	chr2:32634136-32634137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561935188	chr2:32634180-32634181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573612488	chr2:32634198-32634199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370905726	chr2:32634223-32634224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13025809	chr2:32634272-32634273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191637617	chr2:32634290-32634291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527303516	chr2:32634352-32634353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544298234	chr2:32634353-32634354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183527235	chr2:32634372-32634373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58316269	chr2:32634375-32634376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530217120	chr2:32634408-32634409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550002777	chr2:32634428-32634429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536278321	chr2:32634433-32634434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554946179	chr2:32634468-32634469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187584669	chr2:32634472-32634473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576818036	chr2:32634493-32634494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36097068	chr2:32634494-32634495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544082976	chr2:32634511-32634512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200152888	chr2:32634518-32634519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558794894	chr2:32634547-32634548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566033621	chr2:32634585-32634586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534734303	chr2:32634622-32634623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147851995	chr2:32634625-32634626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77521345	chr2:32634645-32634646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574022551	chr2:32634649-32634650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562490323	chr2:32634674-32634675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192633323	chr2:32634696-32634697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556346886	chr2:32634702-32634703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182119955	chr2:32634730-32634731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577476892	chr2:32634751-32634752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541595096	chr2:32634800-32634801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564850295	chr2:32634817-32634818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571986536	chr2:32634826-32634827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560016490	chr2:32634841-32634842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540705781	chr2:32634848-32634849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77718233	chr2:32634892-32634893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116864512	chr2:32634896-32634897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148890143	chr2:32634992-32634993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551424599	chr2:32635049-32635050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Autism	22549408	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:13048 , 50 per page) page: 1 2 3 4 5 6 7 ... 261

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32583600-32653200	Weak transcription	Gastric	stomach
2	chr2:32583800-32649000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:32602000-32653000	Weak transcription	Stomach Mucosa	stomach
4	chr2:32604600-32635000	Strong transcription	Fetal Thymus	thymus
5	chr2:32604600-32635200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:32604600-32637200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:32604800-32635600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:32605200-32635400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:32605200-32637200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:32605400-32652800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:32605800-32634000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr2:32606800-32636800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:32607000-32636200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:32607200-32650600	Weak transcription	Fetal Heart	heart
15	chr2:32607600-32639800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:32607800-32634000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:32607800-32637800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:32607800-32640200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:32609800-32637400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:32613800-32645400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:32617800-32650800	Weak transcription	Right Ventricle	heart
22	chr2:32618000-32640400	Weak transcription	Small Intestine	intestine
23	chr2:32618000-32650800	Weak transcription	Psoas Muscle	Psoas
24	chr2:32618600-32644800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr2:32618800-32640000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:32620200-32650600	Weak transcription	Aorta	Aorta
27	chr2:32621000-32669800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:32621200-32664600	Weak transcription	Fetal Brain Male	brain
29	chr2:32621400-32640000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:32621600-32693400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:32621800-32639800	Weak transcription	Brain Anterior Caudate	brain
32	chr2:32621800-32639800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:32622000-32639800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:32622000-32640200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:32622200-32640000	Weak transcription	Brain Substantia Nigra	brain
36	chr2:32622200-32640000	Weak transcription	Ovary	ovary
37	chr2:32622400-32639800	Weak transcription	NHLF	lung
38	chr2:32622400-32640000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:32622400-32640000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:32622400-32640200	Weak transcription	Fetal Brain Female	brain
41	chr2:32622600-32636000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:32622600-32636200	Weak transcription	Pancreas	Pancrea
43	chr2:32622600-32639800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:32622600-32640200	Weak transcription	Spleen	Spleen
45	chr2:32622600-32650800	Weak transcription	Esophagus	oesophagus
46	chr2:32623400-32639600	Weak transcription	Brain Germinal Matrix	brain
47	chr2:32623400-32640000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:32623800-32640400	Weak transcription	Colonic Mucosa	Colon
49	chr2:32624400-32634200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:32625800-32637200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links