Variant report

Variant	nsv597825
Chromosome Location	chr5:37206621-37430365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2897)
CpG islands
(count:2628)
Chromatin interactive
region (count:141)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2897 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:37249328-37249415	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:37371072-37371329	HepG2	liver:	n/a	chr5:37371175-37371187
3	ARID3A	chr5:37412949-37413405	K562	blood:	n/a	n/a
4	ARID3A	chr5:37371166-37371527	K562	blood:	n/a	chr5:37371175-37371187
5	ARID3A	chr5:37349046-37349675	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:37379206-37379473	K562	blood:	n/a	n/a
7	ARID3A	chr5:37424736-37424788	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:37413045-37413386	HepG2	liver:	n/a	n/a
9	ATF1	chr5:37370938-37371803	K562	blood:	n/a	n/a
10	ATF1	chr5:37413139-37413402	K562	blood:	n/a	n/a
11	ATF1	chr5:37212334-37212527	K562	blood:	n/a	n/a
12	ATF1	chr5:37379197-37379483	K562	blood:	n/a	n/a
13	ATF2	chr5:37370974-37371643	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr5:37249330-37249721	GM12878	blood:	n/a	n/a
15	ATF2	chr5:37379198-37379480	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr5:37370963-37371677	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr5:37370933-37371743	GM12878	blood:	n/a	n/a
18	ATF2	chr5:37379058-37379502	GM12878	blood:	n/a	n/a
19	ATF2	chr5:37370951-37371687	GM12878	blood:	n/a	n/a
20	ATF3	chr5:37371073-37371320	GM12878	blood:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
21	ATF3	chr5:37370943-37371319	H1-hESC	embryonic stem cell:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
22	ATF3	chr5:37379100-37379507	A549	lung:	n/a	n/a
23	ATF3	chr5:37370993-37371683	A549	lung:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
24	ATF3	chr5:37272710-37273010	A549	lung:	n/a	n/a
25	ATF3	chr5:37371001-37371307	HepG2	liver:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
26	ATF3	chr5:37379172-37379508	A549	lung:	n/a	n/a
27	ATF3	chr5:37379108-37379491	K562	blood:	n/a	n/a
28	ATF3	chr5:37370910-37371420	GM12878	blood:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
29	ATF3	chr5:37370782-37371385	K562	blood:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
30	ATF3	chr5:37371024-37371385	H1-hESC	embryonic stem cell:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
31	ATF3	chr5:37370920-37371369	K562	blood:	n/a	chr5:37371209-37371223 chr5:37371172-37371181
32	ATF3	chr5:37413096-37413476	K562	blood:	n/a	n/a
33	BACH1	chr5:37305059-37305259	K562	blood:	n/a	n/a
34	BACH1	chr5:37371532-37371839	K562	blood:	n/a	n/a
35	BACH1	chr5:37226577-37226771	K562	blood:	n/a	n/a
36	BACH1	chr5:37249622-37249625	H1-hESC	embryonic stem cell:	n/a	n/a
37	BATF	chr5:37379223-37379461	GM12878	blood:	n/a	n/a
38	BATF	chr5:37413135-37413360	GM12878	blood:	n/a	n/a
39	BCL3	chr5:37370886-37371778	A549	lung:	n/a	chr5:37371215-37371224
40	BCL3	chr5:37370732-37371729	A549	lung:	n/a	chr5:37371215-37371224
41	BCL3	chr5:37379009-37379598	A549	lung:	n/a	n/a
42	BCL3	chr5:37249087-37249607	A549	lung:	n/a	chr5:37249490-37249503 chr5:37249563-37249572
43	BCL3	chr5:37379056-37379575	A549	lung:	n/a	n/a
44	BCLAF1	chr5:37248901-37249584	GM12878	blood:	n/a	chr5:37249490-37249503 chr5:37249563-37249572
45	BCLAF1	chr5:37370930-37371950	GM12878	blood:	n/a	chr5:37371215-37371224
46	BCLAF1	chr5:37379066-37379572	K562	blood:	n/a	n/a
47	BCLAF1	chr5:37379021-37379585	GM12878	blood:	n/a	n/a
48	BCLAF1	chr5:37379111-37379567	GM12878	blood:	n/a	n/a
49	BCLAF1	chr5:37379017-37379502	K562	blood:	n/a	n/a
50	BCLAF1	chr5:37370979-37371786	GM12878	blood:	n/a	chr5:37371215-37371224

(count:2628 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:37248984-37249034	Hela-S3	cervix:	n/a
2	chr5:37371082-37371132	Hela-S3	cervix:	n/a
3	chr5:37208976-37209026	Jurkat	blood:	n/a
4	chr5:37371192-37371242	HCM	heart:	n/a
5	chr5:37382801-37382851	HCT-116	colon:	n/a
6	chr5:37248984-37249034	Hela-S3	cervix:	n/a
7	chr5:37371082-37371132	Hela-S3	cervix:	n/a
8	chr5:37208976-37209026	Jurkat	blood:	n/a
9	chr5:37371192-37371242	HCM	heart:	n/a
10	chr5:37382801-37382851	HCT-116	colon:	n/a
11	chr5:37207622-37207672	IMR90	lung:	fetal
12	chr5:37371213-37371263	NHDF-neo	bronchial:	n/a
13	chr5:37208976-37209026	Hela-S3	cervix:	n/a
14	chr5:37379358-37379408	HNPCEpiC	eye:	n/a
15	chr5:37371053-37371103	LNCaP	prostate:	n/a
16	chr5:37370880-37370930	HUVEC	blood vessel:	n/a
17	chr5:37379272-37379322	HAEpiC	amniotic membrane:	n/a
18	chr5:37371192-37371242	HRCEpiC	kidney:	n/a
19	chr5:37370947-37370997	HMEC	breast:	n/a
20	chr5:37248894-37248944	AG10803	skin:	n/a
21	chr5:37379461-37379511	GM19239	blood:	n/a
22	chr5:37379358-37379408	U87	brain:	n/a
23	chr5:37379272-37379322	SAEC	small airway:	n/a
24	chr5:37371192-37371242	U87	brain:	n/a
25	chr5:37379374-37379424	GM12891	blood:	n/a
26	chr5:37371074-37371124	AG09309	skin:	n/a
27	chr5:37379267-37379317	NH-A	brain:	n/a
28	chr5:37249405-37249455	LNCaP	prostate:	n/a
29	chr5:37371213-37371263	CMK	blood:	n/a
30	chr5:37379396-37379446	HNPCEpiC	eye:	n/a
31	chr5:37249909-37249959	AG10803	skin:	n/a
32	chr5:37212448-37212498	GM12878	blood:	n/a
33	chr5:37209182-37209232	HUVEC	blood vessel:	n/a
34	chr5:37371555-37371605	HNPCEpiC	eye:	n/a
35	chr5:37322183-37322233	SKMC	muscle:	n/a
36	chr5:37370880-37370930	HCT-116	colon:	n/a
37	chr5:37371179-37371229	AG04449	skin:	fetal
38	chr5:37379358-37379408	AG04450	lung:	fetal
39	chr5:37371056-37371106	ProgFib	skin:	n/a
40	chr5:37211096-37211146	Hepatocyte	liver:	n/a
41	chr5:37248894-37248944	NHBE	bronchial:	n/a
42	chr5:37379269-37379319	ECC-1	luminal epithelium:	n/a
43	chr5:37211096-37211146	SK-N-SH	brain:	n/a
44	chr5:37371047-37371097	NHBE	bronchial:	n/a
45	chr5:37371628-37371678	ovcar-3	ovarian:	n/a
46	chr5:37379358-37379408	GM12891	blood:	n/a
47	chr5:37371213-37371263	HRPEpiC	eye:	n/a
48	chr5:37379461-37379511	Hepatocyte	liver:	n/a
49	chr5:37371555-37371605	BE2_C	brain:	n/a
50	chr5:37371628-37371678	AG04449	skin:	fetal

(count:141 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:52831372..52832067-chr5:37371102..37371661,2	HCT-116	colon:
2	chr5:37370692..37371320-chr5:72794239..72794798,2	Hela-S3	cervix:
3	chr5:37349723..37351295-chr5:37369578..37371440,2	K562	blood:
4	chr5:37370037..37373489-chr5:37377973..37381470,5	K562	blood:
5	chr5:37341337..37344195-chr5:37360002..37362809,2	K562	blood:
6	chr5:37412738..37413377-chr5:38194610..38195311,2	MCF-7	breast:
7	chr5:21459174..21459727-chr5:37379374..37379881,2	Hela-S3	cervix:
8	chr5:37370064..37373071-chr5:37393227..37395634,3	K562	blood:
9	chr19:11450158..11450732-chr5:37248969..37249920,2	Hela-S3	cervix:
10	chr5:37290610..37293343-chr5:37317784..37320761,2	K562	blood:
11	chr5:37329127..37329843-chr5:37340391..37341109,2	Hela-S3	cervix:
12	chr5:37423699..37426165-chr5:37428640..37431370,2	MCF-7	breast:
13	chr5:37370037..37373489-chr5:37377973..37381470,5	K562	blood:
14	chr11:67888391..67888933-chr5:37248964..37249645,2	Hela-S3	cervix:
15	chr5:37412800..37413850-chr5:37837177..37838175,5	MCF-7	breast:
16	chr5:37423699..37426165-chr5:37428640..37431370,2	MCF-7	breast:
17	chr5:37402028..37404137-chr5:37405155..37406834,2	K562	blood:
18	chr5:37208938..37209800-chrX:13752746..13753402,2	Hela-S3	cervix:
19	chr5:37207387..37209456-chr5:37214290..37217220,2	K562	blood:
20	chr5:37217019..37219861-chr5:37224561..37226290,2	MCF-7	breast:
21	chr5:37244268..37246209-chr5:37246679..37250816,3	MCF-7	breast:
22	chr5:37239505..37242479-chr5:37244689..37246213,2	MCF-7	breast:
23	chr5:37367445..37369110-chr5:37369671..37371335,2	MCF-7	breast:
24	chr5:37395673..37397370-chr5:37410862..37413241,2	MCF-7	breast:
25	chr5:37341337..37344195-chr5:37360002..37362809,2	K562	blood:
26	chr5:37402028..37404137-chr5:37405155..37406834,2	K562	blood:
27	chr12:7052910..7053902-chr5:37371084..37371594,2	Hela-S3	cervix:
28	chr5:37370138..37373249-chr5:37374935..37377740,7	K562	blood:
29	chr5:37308340..37310527-chr5:37313095..37315302,2	K562	blood:
30	chr5:37197567..37199786-chr5:37206533..37208192,2	MCF-7	breast:
31	chr5:37313041..37316016-chr5:37316235..37320190,3	K562	blood:
32	chr5:37412825..37413381-chr5:37926629..37927147,2	MCF-7	breast:
33	chr5:37225065..37226567-chr5:37275200..37277689,2	K562	blood:
34	chr5:37288508..37291349-chr5:37291892..37294572,2	K562	blood:
35	chr5:37219759..37221366-chr5:37222603..37224859,2	K562	blood:
36	chr5:37329127..37329843-chr5:37340391..37341109,2	Hela-S3	cervix:
37	chr5:37248443..37250196-chr5:37254645..37256658,2	MCF-7	breast:
38	chr5:37363225..37366000-chr5:37368563..37371283,3	K562	blood:
39	chr12:27397103..27397782-chr5:37248907..37249410,2	Hela-S3	cervix:
40	chr5:37341224..37342807-chr5:37371137..37373027,2	K562	blood:
41	chr5:37412852..37413708-chr5:37554717..37555628,3	MCF-7	breast:
42	chr16:2517911..2518776-chr5:37248952..37249746,2	Hela-S3	cervix:
43	chr5:37378209..37381818-chr5:37388003..37389859,3	K562	blood:
44	chr5:37392088..37394720-chr5:37398631..37400477,2	K562	blood:
45	chr5:37326836..37328413-chr5:37330631..37332181,2	K562	blood:
46	chr5:37296733..37298868-chr5:37344772..37346341,2	K562	blood:
47	chr5:37358150..37361413-chr5:37362395..37366227,3	K562	blood:
48	chr5:37397085..37398718-chr5:37402352..37404618,2	MCF-7	breast:
49	chr5:37348597..37351209-chr5:37351351..37353763,2	K562	blood:
50	chr5:37358150..37361413-chr5:37362395..37366227,3	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUP155-1	chr5:37286551-37287079	NONHSAT101059
2	lnc-NIPBL-7	chr5:37379591-37379656	NONHSAT101065
3	lnc-WDR70-5	chr5:37250499-37250654	NONHSAT101058
4	lnc-WDR70-5	chr5:37254685-37254730	NONHSAT101057
5	lnc-WDR70-4	chr5:37377986-37378073	NONHSAT101062
6	lnc-WDR70-5	chr5:37249174-37249323	NONHSAT101058
7	lnc-WDR70-4	chr5:37377151-37377385	NONHSAT101062
8	lnc-WDR70-5	chr5:37248948-37249323	NONHSAT101057
9	lnc-C5orf42-5	chr5:37324306-37324596	expReg_chr5_1217_-
10	lnc-NIPBL-7	chr5:37381704-37381911	NONHSAT101065
11	lnc-NUP155-2	chr5:37246277-37246581	NONHSAT101056
12	lnc-NIPBL-7	chr5:37379404-37379494	NONHSAT101065

No data

Variant related genes	Relation type
OFD1P17	TF binding region
ENSG00000250455	TF binding region
ENSG00000270558	TF binding region
C5orf42	TF binding region
WDR70	TF binding region
RN7SL37P	TF binding region
RNU7-75P	TF binding region
NUP155	TF binding region
OFD1P17	CpG island
ENSG00000250455	CpG island
ENSG00000270558	CpG island
C5orf42	CpG island
WDR70	CpG island
RN7SL37P	CpG island
RNU7-75P	CpG island
NUP155	CpG island
ENSG00000108106	chromatin interactions
ENSG00000236137	chromatin interactions
ENSG00000082068	chromatin interactions
ENSG00000250455	chromatin interactions
ENSG00000110721	chromatin interactions
ENSG00000244165	chromatin interactions
ENSG00000164190	chromatin interactions
ENSG00000272173	chromatin interactions
ENSG00000248587	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000211455	chromatin interactions
ENSG00000173209	chromatin interactions
ENSG00000253513	chromatin interactions
ENSG00000180806	chromatin interactions
ENSG00000259895	chromatin interactions
ENSG00000242493	chromatin interactions
ENSG00000243989	chromatin interactions
ENSG00000113569	chromatin interactions
ENSG00000184348	chromatin interactions
ENSG00000079999	chromatin interactions
ENSG00000114779	chromatin interactions
ENSG00000215190	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000149273	chromatin interactions
ENSG00000196459	chromatin interactions
ENSG00000183666	chromatin interactions
ENSG00000105514	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000046651	chromatin interactions
ENSG00000250133	chromatin interactions
ENSG00000111142	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000214770	chromatin interactions
ENSG00000251880	chromatin interactions
ENSG00000145741	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000197603	chromatin interactions
ENSG00000104549	chromatin interactions
ENSG00000154222	chromatin interactions

Extended variants
information (count: 8523 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:8523 , 50 per page) page: 1 2 3 4 5 6 7 ... 171

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12658479	chr5:37206621-37206622	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149569050	chr5:37206623-37206624	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs551030721	chr5:37206668-37206669	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs186401573	chr5:37206671-37206672	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs537045370	chr5:37206685-37206686	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs572946169	chr5:37206715-37206716	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs148517805	chr5:37206716-37206717	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs567257301	chr5:37206784-37206785	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs534738271	chr5:37206812-37206813	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs373530424	chr5:37206848-37206849	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs577803237	chr5:37206914-37206915	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs538789992	chr5:37206935-37206936	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs79929045	chr5:37206958-37206959	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs575469489	chr5:37206979-37206980	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs189977935	chr5:37207068-37207069	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs560980148	chr5:37207159-37207160	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs572877474	chr5:37207201-37207202	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs565023789	chr5:37207219-37207220	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs540372192	chr5:37207233-37207234	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs565370613	chr5:37207316-37207317	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111904995	chr5:37207329-37207330	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs180785041	chr5:37207381-37207382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186273652	chr5:37207388-37207389	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563060643	chr5:37207397-37207398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542611404	chr5:37207432-37207433	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73750953	chr5:37207436-37207437	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs191002544	chr5:37207471-37207472	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183406265	chr5:37207509-37207510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567316995	chr5:37207538-37207539	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185915152	chr5:37207539-37207540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546389516	chr5:37207597-37207598	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190730976	chr5:37207616-37207617	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538480604	chr5:37207624-37207625	Weak transcription Strong transcription Enhancers	CpG island	2 gene(s)	Overlapped CNVs	n/a
34	rs377430312	chr5:37207625-37207626	Weak transcription Strong transcription Enhancers	CpG island	2 gene(s)	Overlapped CNVs	n/a
35	rs183145912	chr5:37207636-37207637	Weak transcription Strong transcription Enhancers	CpG island	2 gene(s)	Overlapped CNVs	n/a
36	rs72736759	chr5:37207639-37207640	Weak transcription Strong transcription Enhancers	CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs536166657	chr5:37207654-37207655	Weak transcription Strong transcription Enhancers	CpG island	2 gene(s)	Overlapped CNVs	n/a
38	rs544240879	chr5:37207743-37207744	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564756708	chr5:37207762-37207763	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572941033	chr5:37207767-37207768	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540580263	chr5:37207838-37207839	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558784619	chr5:37207847-37207848	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561206922	chr5:37207956-37207957	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187930685	chr5:37207960-37207961	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544365507	chr5:37207984-37207985	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563126351	chr5:37207995-37207996	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143674763	chr5:37208009-37208010	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs368834149	chr5:37208010-37208011	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs530315627	chr5:37208037-37208038	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs192999805	chr5:37208043-37208044	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5763 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37113600-37222200	Weak transcription	Psoas Muscle	Psoas
2	chr5:37161000-37207200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:37166400-37213600	Weak transcription	HepG2	liver
4	chr5:37169600-37214600	Weak transcription	Fetal Heart	heart
5	chr5:37170400-37235600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:37171400-37209000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:37171600-37208200	Weak transcription	Gastric	stomach
8	chr5:37171600-37249000	Weak transcription	Spleen	Spleen
9	chr5:37172200-37207600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:37172200-37225000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:37173400-37209200	Weak transcription	NHEK	skin
12	chr5:37174000-37229600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:37175400-37209000	Weak transcription	Colonic Mucosa	Colon
14	chr5:37175400-37209000	Weak transcription	Esophagus	oesophagus
15	chr5:37175600-37209000	Weak transcription	Right Ventricle	heart
16	chr5:37178600-37209000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:37183600-37214800	Weak transcription	A549	lung
18	chr5:37184400-37214600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:37185200-37226000	Weak transcription	HMEC	breast
20	chr5:37186400-37220600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr5:37188000-37213400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:37190800-37221600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:37192000-37212200	Weak transcription	Brain Substantia Nigra	brain
24	chr5:37193600-37209000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:37195000-37209000	Weak transcription	Ovary	ovary
26	chr5:37195600-37208800	Weak transcription	Fetal Intestine Small	intestine
27	chr5:37195800-37208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:37196800-37210200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:37197800-37208000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:37197800-37216000	Weak transcription	Pancreas	Pancrea
31	chr5:37197800-37217800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:37198000-37207200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:37198000-37208000	Weak transcription	Lung	lung
34	chr5:37198400-37207200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:37198400-37209000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr5:37198400-37209200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:37198400-37211000	Weak transcription	Colon Smooth Muscle	Colon
38	chr5:37198400-37236200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:37198600-37208400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr5:37198600-37208800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:37198600-37208800	Weak transcription	HUVEC	blood vessel
42	chr5:37198600-37209000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr5:37198600-37209000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:37198600-37209000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr5:37198600-37209000	Weak transcription	Fetal Kidney	kidney
46	chr5:37198600-37209000	Weak transcription	NH-A	brain
47	chr5:37198600-37209200	Weak transcription	Small Intestine	intestine
48	chr5:37198600-37226400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:37198600-37226400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr5:37198800-37208800	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links