Variant report

Variant	nsv1001644
Chromosome Location	chr2:32724734-33325440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6060)
CpG islands
(count:3726)
Chromatin interactive
region (count:448)
LncRNA
region (count:107)
Mature miRNA
region (count: 2)
miRNA target
sites (count:7)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:33185346-33186670	K562	blood:	n/a	n/a
2	ARID3A	chr2:33175022-33175445	K562	blood:	n/a	n/a
3	ARID3A	chr2:32946460-32946757	K562	blood:	n/a	n/a
4	ARID3A	chr2:32993323-32994137	K562	blood:	n/a	n/a
5	ARID3A	chr2:33171330-33171675	K562	blood:	n/a	n/a
6	ARID3A	chr2:32858261-32858418	K562	blood:	n/a	n/a
7	ARID3A	chr2:33248405-33248594	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:33030069-33030809	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:33181117-33181278	K562	blood:	n/a	n/a
10	ARID3A	chr2:32816899-32817528	K562	blood:	n/a	n/a
11	ARID3A	chr2:33289402-33289458	K562	blood:	n/a	n/a
12	ARID3A	chr2:32815131-32815135	K562	blood:	n/a	n/a
13	ARID3A	chr2:33141143-33141554	HepG2	liver:	n/a	n/a
14	ARID3A	chr2:33244964-33245164	K562	blood:	n/a	n/a
15	ARID3A	chr2:33002613-33003226	HepG2	liver:	n/a	n/a
16	ARID3A	chr2:33247797-33249376	K562	blood:	n/a	chr2:33248889-33248905
17	ARID3A	chr2:33190665-33190848	K562	blood:	n/a	n/a
18	ARID3A	chr2:32857326-32857639	K562	blood:	n/a	n/a
19	ARID3A	chr2:33119076-33119529	K562	blood:	n/a	n/a
20	ARID3A	chr2:33058909-33059022	K562	blood:	n/a	n/a
21	ARID3A	chr2:33285574-33285673	K562	blood:	n/a	n/a
22	ARID3A	chr2:33258718-33258942	K562	blood:	n/a	n/a
23	ARID3A	chr2:32852895-32853266	HepG2	liver:	n/a	n/a
24	ARID3A	chr2:33226994-33227246	HepG2	liver:	n/a	n/a
25	ARID3A	chr2:33287152-33287157	K562	blood:	n/a	n/a
26	ATF1	chr2:33244969-33245176	K562	blood:	n/a	n/a
27	ATF1	chr2:32993451-32993906	K562	blood:	n/a	n/a
28	ATF1	chr2:32817084-32817526	K562	blood:	n/a	n/a
29	ATF1	chr2:33296225-33296352	K562	blood:	n/a	n/a
30	ATF1	chr2:33090668-33091073	K562	blood:	n/a	n/a
31	ATF1	chr2:33185637-33186428	K562	blood:	n/a	n/a
32	ATF1	chr2:32872262-32872524	K562	blood:	n/a	n/a
33	ATF1	chr2:33058786-33059089	K562	blood:	n/a	n/a
34	ATF1	chr2:33248183-33248687	K562	blood:	n/a	n/a
35	ATF1	chr2:32836490-32836739	K562	blood:	n/a	n/a
36	ATF1	chr2:33062116-33062407	K562	blood:	n/a	n/a
37	ATF1	chr2:33171355-33172083	K562	blood:	n/a	chr2:33171922-33171936
38	ATF1	chr2:33158402-33158866	K562	blood:	n/a	n/a
39	ATF1	chr2:33294897-33295215	K562	blood:	n/a	n/a
40	ATF1	chr2:33119131-33119514	K562	blood:	n/a	n/a
41	ATF1	chr2:32946452-32946958	K562	blood:	n/a	n/a
42	ATF1	chr2:33175066-33175451	K562	blood:	n/a	n/a
43	ATF1	chr2:33246713-33247139	K562	blood:	n/a	n/a
44	ATF1	chr2:32783652-32783878	K562	blood:	n/a	n/a
45	ATF2	chr2:32852661-32853344	H1-hESC	embryonic stem cell:	n/a	n/a
46	ATF2	chr2:32957996-32958541	GM12878	blood:	n/a	n/a
47	ATF2	chr2:32852916-32853520	GM12878	blood:	n/a	n/a
48	ATF2	chr2:33136004-33136429	GM12878	blood:	n/a	n/a
49	ATF2	chr2:32853000-32853469	H1-hESC	embryonic stem cell:	n/a	n/a
50	ATF2	chr2:32968457-32969077	GM12878	blood:	n/a	n/a

(count:3726 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:33050475-33050525	HRPEpiC	eye:	n/a
2	chr2:33152037-33152087	Caco-2	colon:	n/a
3	chr2:33110986-33111036	NHBE	bronchial:	n/a
4	chr2:33183321-33183371	AoSMC	blood vessel:	n/a
5	chr2:33240386-33240436	ovcar-3	ovarian:	n/a
6	chr2:33050475-33050525	HRPEpiC	eye:	n/a
7	chr2:33152037-33152087	Caco-2	colon:	n/a
8	chr2:33110986-33111036	NHBE	bronchial:	n/a
9	chr2:33183321-33183371	AoSMC	blood vessel:	n/a
10	chr2:33240386-33240436	ovcar-3	ovarian:	n/a
11	chr2:33245988-33246038	SK-N-SH_RA	brain:	n/a
12	chr2:32852696-32852746	HCT-116	colon:	n/a
13	chr2:33151557-33151607	BJ	skin:	n/a
14	chr2:33107130-33107180	AoSMC	blood vessel:	n/a
15	chr2:33217152-33217202	MCF-7	breast:	n/a
16	chr2:33172442-33172492	HAEpiC	amniotic membrane:	n/a
17	chr2:33240386-33240436	ECC-1	luminal epithelium:	n/a
18	chr2:32853480-32853530	HPAEpiC	pulmonary alveolar:	n/a
19	chr2:33107130-33107180	HepG2	liver:	n/a
20	chr2:33217152-33217202	HMEC	breast:	n/a
21	chr2:33107130-33107180	GM06990	blood:	n/a
22	chr2:33183321-33183371	HAEpiC	amniotic membrane:	n/a
23	chr2:32852696-32852746	SK-N-MC	brain:	n/a
24	chr2:33245988-33246038	SK-N-MC	brain:	n/a
25	chr2:32980137-32980187	AG10803	skin:	n/a
26	chr2:33249103-33249153	SKMC	muscle:	n/a
27	chr2:33240386-33240436	HRE	kidney:	n/a
28	chr2:33249103-33249153	MCF10A-Er-Src	breast:	n/a
29	chr2:33150993-33151043	BJ	skin:	n/a
30	chr2:33049885-33049935	PrEC	prostate:	n/a
31	chr2:32853064-32853114	HRPEpiC	eye:	n/a
32	chr2:32852965-32853015	PANC-1	pancreas:	n/a
33	chr2:33282816-33282866	Hepatocyte	liver:	n/a
34	chr2:33217152-33217202	ovcar-3	ovarian:	n/a
35	chr2:32905314-32905364	Caco-2	colon:	n/a
36	chr2:32853064-32853114	HL-60	blood:	n/a
37	chr2:32905314-32905364	SK-N-MC	brain:	n/a
38	chr2:33172002-33172052	ovcar-3	ovarian:	n/a
39	chr2:33110871-33110921	PrEC	prostate:	n/a
40	chr2:33110986-33111036	HNPCEpiC	eye:	n/a
41	chr2:32849433-32849483	Hepatocyte	liver:	n/a
42	chr2:33217152-33217202	Hepatocyte	liver:	n/a
43	chr2:33110986-33111036	NH-A	brain:	n/a
44	chr2:33106489-33106539	MCF-7	breast:	n/a
45	chr2:32757307-32757357	PrEC	prostate:	n/a
46	chr2:33110871-33110921	HCPEpiC	choroid plexus:	n/a
47	chr2:32852828-32852878	K562	blood:	n/a
48	chr2:33050475-33050525	HMEC	breast:	n/a
49	chr2:33169353-33169403	PANC-1	pancreas:	n/a
50	chr2:32852292-32852342	CMK	blood:	n/a

(count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Distal block	Cell Line	Cell type
1	chr2:32931543..32933907-chr2:32935131..32937393,2	K562	blood:
2	chr2:33174103..33176141-chr2:33178757..33180514,2	MCF-7	breast:
3	chr2:33294964..33297126-chr2:33297596..33299242,2	MCF-7	breast:
4	chr2:33240217..33242128-chr2:33243629..33245365,2	K562	blood:
5	chr2:33282738..33285089-chr2:33286024..33287649,2	MCF-7	breast:
6	chr2:32772967..32775818-chr2:32777845..32779821,2	K562	blood:
7	chr2:32857206..32858906-chr2:32863205..32865583,2	K562	blood:
8	chr2:33088950..33092177-chr2:33094530..33098614,3	K562	blood:
9	chr2:33171020..33171644-chr2:33597779..33598617,2	MCF-7	breast:
10	chr2:33047440..33049654-chr2:33054082..33055725,2	K562	blood:
11	chr2:33284687..33288170-chr2:33293184..33297507,4	K562	blood:
12	chr2:32851691..32856374-chr2:32856581..32859779,6	K562	blood:
13	chr2:32915483..32918199-chr2:32920270..32921780,2	K562	blood:
14	chr2:33290893..33292453-chr2:33292732..33295013,2	K562	blood:
15	chr2:33170909..33171727-chr2:33294922..33295425,2	MCF-7	breast:
16	chr2:32829148..32832106-chr2:32854548..32856676,2	K562	blood:
17	chr2:33171014..33172494-chr2:33258270..33259504,6	MCF-7	breast:
18	chr2:32947177..32949631-chr2:32971660..32974311,2	K562	blood:
19	chr2:33258883..33261286-chr2:33620166..33622168,2	MCF-7	breast:
20	chr2:33293451..33296755-chr2:33301954..33305143,4	MCF-7	breast:
21	chr2:33001090..33004313-chr2:33170571..33173940,5	MCF-7	breast:
22	chr2:32851150..32855956-chr2:32860163..32864555,5	K562	blood:
23	chr2:32843739..32845990-chr2:32848491..32850530,2	MCF-7	breast:
24	chr2:33272260..33273940-chr2:33470694..33472711,2	MCF-7	breast:
25	chr2:33169993..33174534-chr2:33256744..33259597,9	MCF-7	breast:
26	chr2:33163172..33164703-chr2:33171502..33173083,2	MCF-7	breast:
27	chr2:33028931..33032272-chr2:33034767..33037372,3	K562	blood:
28	chr2:33236766..33239926-chr2:33243228..33245215,3	MCF-7	breast:
29	chr2:32900563..32903337-chr2:32907428..32909119,2	K562	blood:
30	chr2:33150931..33160900-chr2:33168197..33175250,9	K562	blood:
31	chr2:32728272..32730412-chr2:32730528..32733099,2	MCF-7	breast:
32	chr2:32912223..32914331-chr2:32924162..32926010,2	MCF-7	breast:
33	chr2:33294930..33295688-chr2:33444908..33445678,2	MCF-7	breast:
34	chr2:33060919..33062903-chr2:33067593..33069327,2	K562	blood:
35	chr2:33171249..33173297-chr2:33277320..33279227,2	K562	blood:
36	chr2:33275820..33277562-chr2:33294369..33297185,2	MCF-7	breast:
37	chr2:33029313..33030882-chr2:33184913..33187866,2	K562	blood:
38	chr2:33172193..33174993-chr2:33187590..33190628,4	MCF-7	breast:
39	chr2:33112687..33115750-chr2:33117617..33121219,3	K562	blood:
40	chr2:33290893..33292453-chr2:33292732..33295013,2	K562	blood:
41	chr2:32817520..32819647-chr2:32819707..32821210,2	K562	blood:
42	chr2:32997330..32998373-chr2:33258363..33259384,12	MCF-7	breast:
43	chr2:33120235..33122609-chr2:33124113..33127663,3	K562	blood:
44	chr2:33155767..33157541-chr2:33161643..33163484,2	MCF-7	breast:
45	chr2:32934432..32936969-chr2:32940925..32942576,2	K562	blood:
46	chr2:32857608..32859353-chr2:32861753..32864636,2	MCF-7	breast:
47	chr12:34008981..34009786-chr2:33211553..33212456,2	MCF-7	breast:
48	chr2:33009728..33011942-chr2:33013332..33015811,2	K562	blood:
49	chr2:32742615..32744223-chr2:32774053..32776106,2	K562	blood:
50	chr2:32957957..32960814-chr2:32966256..32968769,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
2	lnc-TTC27-1	chr2:33152179-33152413	NONHSAT070003
3	lnc-TTC27-1	chr2:33153303-33153581	XLOC_001418
4	lnc-TTC27-1	chr2:33061641-33061801	XLOC_001418
5	lnc-TTC27-1	chr2:33152194-33152413	XLOC_001418
6	lnc-BIRC6-1	chr2:32904014-32904081	NONHSAT069986
7	lnc-BIRC6-1	chr2:32977111-32977213	NONHSAT069987
8	lnc-TTC27-1	chr2:33153303-33153472	NONHSAT070002
9	lnc-TTC27-1	chr2:33121992-33122047	XLOC_001418
10	lnc-TTC27-1	chr2:33152194-33152413	XLOC_001418
11	lnc-TTC27-1	chr2:33153303-33153472	NONHSAT070004
12	lnc-TTC27-1	chr2:33121992-33122046	XLOC_001418
13	lnc-BIRC6-1	chr2:32980634-32980694	NONHSAT069986
14	lnc-TTC27-1	chr2:33050496-33050577	XLOC_001418
15	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
16	lnc-TTC27-1	chr2:33065837-33065996	XLOC_001418
17	lnc-TTC27-1	chr2:33152163-33153190	XLOC_001418
18	lnc-BIRC6-2	chr2:33006807-33006976	NONHSAT069989
19	lnc-TTC27-1	chr2:33150420-33151756	XLOC_001418
20	lnc-TTC27-1	chr2:33061547-33061801	XLOC_001418
21	lnc-BIRC6-1	chr2:32977111-32977213	NONHSAT069986
22	lnc-TTC27-1	chr2:33107994-33108117	XLOC_001418
23	lnc-TTC27-1	chr2:33050394-33050577	XLOC_001418
24	lnc-BIRC6-1	chr2:32919585-32919804	NONHSAT069987
25	lnc-TTC27-1	chr2:33153132-33153190	XLOC_001418
26	lnc-TTC27-1	chr2:33050510-33050577	XLOC_001418
27	lnc-TTC27-1	chr2:33154006-33154206	XLOC_001418
28	lnc-BIRC6-1	chr2:33003924-33005093	NONHSAT069988
29	lnc-TTC27-1	chr2:33066080-33066300	XLOC_001418
30	lnc-BIRC6-2	chr2:33006603-33006694	ucscGeneNc_uc002ror_2
31	lnc-TTC27-1	chr2:33127130-33127190	ENSG00000230876
32	lnc-TTC27-1	chr2:33065837-33066300	XLOC_001418
33	lnc-TTC27-1	chr2:33061701-33061781	XLOC_001418
34	lnc-TTC27-1	chr2:33066080-33066300	XLOC_001418
35	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
36	lnc-TTC27-1	chr2:33121992-33122046	XLOC_001418
37	lnc-TTC27-1	chr2:33123607-33123709	XLOC_001418
38	lnc-TTC27-1	chr2:33152163-33152729	XLOC_001418
39	lnc-TTC27-1	chr2:33170294-33171200	XLOC_001418
40	lnc-TTC27-1	chr2:33061597-33061801	XLOC_001418
41	lnc-TTC27-1	chr2:33107766-33107893	NONHSAT069999
42	lnc-TTC27-1	chr2:33153099-33153190	NONHSAT070004
43	lnc-TTC27-1	chr2:33066862-33066968	XLOC_001418
44	lnc-TTC27-1	chr2:33066081-33066300	XLOC_001418
45	lnc-BIRC6-1	chr2:32961270-32961397	NONHSAT069987
46	lnc-TTC27-1	chr2:33123607-33123709	NONHSAT069999
47	lnc-TTC27-1	chr2:33127130-33127190	XLOC_001418
48	lnc-TTC27-1	chr2:33050510-33050577	XLOC_001418
49	lnc-TTC27-1	chr2:33066862-33066968	XLOC_001418
50	lnc-TTC27-1	chr2:33123607-33123709	ENSG00000230876

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-218-5p	chr2:32842996-32843017
2	BIRC6	hsa-let-7a-5p	chr2:32843237-32843260
3	BIRC6	hsa-let-7b-5p	chr2:32843468-32843490
4	BIRC6	hsa-miR-34a-5p	chr2:32843220-32843241
5	BIRC6	hsa-let-7b-5p	chr2:32843237-32843260
6	BIRC6	hsa-let-7a-5p	chr2:32843468-32843490
7	BIRC6	hsa-miR-218-5p	chr2:32843010-32843017

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
ENSG00000115760	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000049323	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000206951	chromatin interactions
ENSG00000169764	chromatin interactions
ENSG00000236854	chromatin interactions
ENSG00000018699	chromatin interactions
ENSG00000267416	chromatin interactions
ENSG00000152683	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000265057	chromatin interactions
ENSG00000223951	chromatin interactions
ENSG00000230876	chromatin interactions
ENSG00000272716	chromatin interactions
CCDC117	miRNA target sites
MRPL19	miRNA target sites
HMGA2	miRNA target sites
FOXG1	miRNA target sites
MBNL3	miRNA target sites
POGZ	miRNA target sites
MBTD1	miRNA target sites
REST	miRNA target sites
CCDC28A	miRNA target sites
GATAD2B	miRNA target sites
REV3L	miRNA target sites
CCDC165	miRNA target sites
CCDC19	miRNA target sites
RET	miRNA target sites
RFX1	miRNA target sites
POGK	miRNA target sites
RFFL	miRNA target sites
POGLUT1	miRNA target sites

Extended variants
information (count: 24246 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:24246 , 50 per page) page: 1 2 3 4 5 6 7 ... 485

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137947891	chr2:32724761-32724762	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs111947829	chr2:32724764-32724765	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs538984400	chr2:32724770-32724771	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs148364840	chr2:32724799-32724800	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs565916832	chr2:32724803-32724804	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs201342252	chr2:32724847-32724848	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200142371	chr2:32724850-32724851	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192943089	chr2:32724853-32724854	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142277878	chr2:32724888-32724889	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201116141	chr2:32724901-32724902	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147547160	chr2:32724932-32724933	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200266768	chr2:32724981-32724982	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3731580	chr2:32725022-32725023	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576408414	chr2:32725045-32725046	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546119194	chr2:32725048-32725049	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199764316	chr2:32725054-32725055	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147986197	chr2:32725060-32725061	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542361359	chr2:32725092-32725093	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528988830	chr2:32725103-32725104	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369749834	chr2:32725215-32725216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113082103	chr2:32725225-32725226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75964743	chr2:32725226-32725227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189590812	chr2:32725318-32725319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564961937	chr2:32725352-32725353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544718070	chr2:32725369-32725370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559507076	chr2:32725388-32725389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539450377	chr2:32725442-32725443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564503227	chr2:32725474-32725475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138003837	chr2:32725477-32725478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368668031	chr2:32725487-32725488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61115131	chr2:32725503-32725504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552516478	chr2:32725545-32725546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191329138	chr2:32725553-32725554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565937174	chr2:32725562-32725563	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs58681380	chr2:32725571-32725572	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183970529	chr2:32725598-32725599	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs568158313	chr2:32725601-32725602	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs537177060	chr2:32725610-32725611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374389692	chr2:32725673-32725674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371055748	chr2:32725674-32725675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556622877	chr2:32725678-32725679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2366895	chr2:32725679-32725680	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs79997646	chr2:32725691-32725692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539015702	chr2:32725699-32725700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181131621	chr2:32725725-32725726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573444720	chr2:32725741-32725742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542151547	chr2:32725749-32725750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555976518	chr2:32725758-32725759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59743723	chr2:32725759-32725760	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs186367049	chr2:32725777-32725778	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
Autism	22549408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	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:10302 , 50 per page) page: 1 2 3 4 5 6 7 ... 207

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32668000-32740200	Weak transcription	Psoas Muscle	Psoas
2	chr2:32685600-32760400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:32686400-32759400	Strong transcription	Dnd41	blood
4	chr2:32687400-32745400	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:32687600-32736200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:32687600-32736400	Strong transcription	Liver	Liver
7	chr2:32687600-32753400	Strong transcription	Placenta	Placenta
8	chr2:32687600-32754400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:32688600-32728400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:32689800-32743600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:32692800-32751800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:32699000-32740200	Weak transcription	Fetal Heart	heart
13	chr2:32703800-32724800	Weak transcription	Gastric	stomach
14	chr2:32708000-32724800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:32708800-32734200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:32711000-32789600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:32711600-32738600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:32711600-32740400	Weak transcription	Fetal Brain Male	brain
19	chr2:32711600-32774400	Weak transcription	Stomach Mucosa	stomach
20	chr2:32711800-32733000	Weak transcription	Fetal Kidney	kidney
21	chr2:32711800-32734200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:32711800-32740200	Weak transcription	Brain Angular Gyrus	brain
23	chr2:32712000-32726800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:32712000-32730000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:32712000-32730000	Weak transcription	Brain Substantia Nigra	brain
26	chr2:32712000-32737800	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:32713200-32727400	Weak transcription	Brain Anterior Caudate	brain
28	chr2:32713400-32730000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:32713400-32771800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:32714000-32740200	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:32714800-32724800	Weak transcription	Small Intestine	intestine
32	chr2:32715600-32730000	Weak transcription	Colonic Mucosa	Colon
33	chr2:32715600-32840000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:32715800-32728000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:32718200-32748400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:32718200-32759400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:32718400-32735000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:32718400-32736200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr2:32718600-32728400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:32718600-32728400	Strong transcription	HSMM	muscle
41	chr2:32718600-32732000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:32718600-32760600	Strong transcription	Fetal Thymus	thymus
43	chr2:32718800-32727400	Strong transcription	Osteobl	bone
44	chr2:32719200-32726200	Strong transcription	Fetal Intestine Small	intestine
45	chr2:32719200-32726400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:32719200-32735800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:32719600-32735600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr2:32719600-32746000	Strong transcription	Fetal Intestine Large	intestine
49	chr2:32719800-32725600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:32720800-32726600	Weak transcription	Brain Germinal Matrix	brain

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