Variant report

Variant	nsv978854
Chromosome Location	chr19:55600405-55611152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:396)
CpG islands
(count:305)
Chromatin interactive
region (count:31)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr19:55607617-55607645	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr19:55605988-55606164	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr19:55603947-55604047	H1-hESC	embryonic stem cell:	n/a	chr19:55603976-55603986
4	CHD2	chr19:55603295-55603713	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr19:55607580-55607730	MCF-7	breast:	n/a	n/a
6	CTCF	chr19:55610300-55610450	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr19:55610300-55610450	GM12869	blood:	n/a	n/a
8	CTCF	chr19:55610280-55610430	HMEC	breast:	n/a	n/a
9	CTCF	chr19:55610280-55610430	A549	lung:	n/a	n/a
10	CTCF	chr19:55610260-55610410	GM12864	blood:	n/a	n/a
11	CTCF	chr19:55610366-55610401	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr19:55610300-55610450	GM12870	blood:	n/a	n/a
13	CTCF	chr19:55610157-55610564	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr19:55610280-55610430	GM12868	blood:	n/a	n/a
15	CTCF	chr19:55610299-55610415	GM19238	blood:	n/a	n/a
16	CTCF	chr19:55610260-55610410	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr19:55610200-55610350	K562	blood:	n/a	n/a
18	CTCF	chr19:55610273-55610416	MCF-7	breast:	n/a	n/a
19	CTCF	chr19:55610172-55610534	K562	blood:	n/a	n/a
20	CTCF	chr19:55610258-55610440	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr19:55610280-55610430	HCFaa	heart:	n/a	n/a
22	CTCF	chr19:55606000-55606150	HEK293	kidney:	n/a	n/a
23	CTCF	chr19:55607660-55607810	GM06990	blood:	n/a	n/a
24	CTCF	chr19:55610240-55610390	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr19:55607600-55607750	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr19:55610240-55610390	HL-60	blood:	n/a	n/a
27	CTCF	chr19:55610280-55610430	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr19:55610245-55610469	MCF-7	breast:	n/a	n/a
29	CTCF	chr19:55607615-55607655	GM12892	blood:	n/a	n/a
30	CTCF	chr19:55610281-55610403	Fibrobl	skin:	n/a	n/a
31	CTCF	chr19:55599455-55600562	A549	lung:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
32	CTCF	chr19:55610220-55610370	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr19:55607580-55607730	HAc	cerebellar:	n/a	n/a
34	CTCF	chr19:55610219-55610696	A549	lung:	n/a	chr19:55610685-55610693
35	CTCF	chr19:55607576-55607704	MCF-7	breast:	n/a	n/a
36	CTCF	chr19:55600260-55600410	AG09319	gingival:	n/a	n/a
37	CTCF	chr19:55610240-55610390	GM12878	blood:	n/a	n/a
38	CTCF	chr19:55607620-55607770	MCF-7	breast:	n/a	n/a
39	CTCF	chr19:55610240-55610390	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr19:55599986-55600446	GM19240	blood:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
41	CTCF	chr19:55610226-55610493	K562	blood:	n/a	n/a
42	CTCF	chr19:55607598-55607670	Gliobla	brain:	n/a	n/a
43	CTCF	chr19:55607360-55607510	HEK293	kidney:	n/a	n/a
44	CTCF	chr19:55599352-55600596	SK-N-SH	brain:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
45	CTCF	chr19:55610300-55610450	HFF	foreskin:	n/a	n/a
46	CTCF	chr19:55610340-55610490	AG04450	lung:	n/a	n/a
47	CTCF	chr19:55607540-55607690	GM12871	blood:	n/a	n/a
48	CTCF	chr19:55608620-55608678	GM19239	blood:	n/a	n/a
49	CTCF	chr19:55607600-55607750	AG04449	skin:	n/a	n/a
50	CTCF	chr19:55610260-55610410	AG04449	skin:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55609047-55609097	NH-A	brain:	n/a
2	chr19:55609047-55609097	NT2-D1	testis:	n/a
3	chr19:55606078-55606128	HRPEpiC	eye:	n/a
4	chr19:55602822-55602872	Jurkat	blood:	n/a
5	chr19:55610938-55610988	AG09319	gingival:	n/a
6	chr19:55607746-55607796	HCM	heart:	n/a
7	chr19:55606078-55606128	PANC-1	pancreas:	n/a
8	chr19:55602822-55602872	HNPCEpiC	eye:	n/a
9	chr19:55607746-55607796	PFSK-1	brain:	n/a
10	chr19:55610938-55610988	HPAEpiC	pulmonary alveolar:	n/a
11	chr19:55602822-55602872	A549	lung:	n/a
12	chr19:55602822-55602872	HEEpiC	esophagus:	n/a
13	chr19:55606078-55606128	NHDF-neo	bronchial:	n/a
14	chr19:55602822-55602872	GM06990	blood:	n/a
15	chr19:55607746-55607796	GM19239	blood:	n/a
16	chr19:55610938-55610988	AG04450	lung:	fetal
17	chr19:55606078-55606128	HCPEpiC	choroid plexus:	n/a
18	chr19:55606078-55606128	Jurkat	blood:	n/a
19	chr19:55602822-55602872	U87	brain:	n/a
20	chr19:55609047-55609097	SKMC	muscle:	n/a
21	chr19:55609047-55609097	HIPEpiC	eye:	n/a
22	chr19:55602822-55602872	ProgFib	skin:	n/a
23	chr19:55610938-55610988	HEK293	kidney:	embryo
24	chr19:55609047-55609097	MCF10A-Er-Src	breast:	n/a
25	chr19:55607746-55607796	PANC-1	pancreas:	n/a
26	chr19:55610938-55610988	NT2-D1	testis:	n/a
27	chr19:55610938-55610988	NHBE	bronchial:	n/a
28	chr19:55606078-55606128	AG04450	lung:	fetal
29	chr19:55602822-55602872	Caco-2	colon:	n/a
30	chr19:55607746-55607796	SK-N-SH	brain:	n/a
31	chr19:55610938-55610988	HCPEpiC	choroid plexus:	n/a
32	chr19:55610938-55610988	GM06990	blood:	n/a
33	chr19:55602822-55602872	HCF	heart:	n/a
34	chr19:55609047-55609097	IMR90	lung:	fetal
35	chr19:55606078-55606128	NHBE	bronchial:	n/a
36	chr19:55602822-55602872	SAEC	small airway:	n/a
37	chr19:55606078-55606128	Hela-S3	cervix:	n/a
38	chr19:55609047-55609097	HRCEpiC	kidney:	n/a
39	chr19:55606078-55606128	HCM	heart:	n/a
40	chr19:55602822-55602872	MCF-7	breast:	n/a
41	chr19:55610938-55610988	PFSK-1	brain:	n/a
42	chr19:55606078-55606128	HRE	kidney:	n/a
43	chr19:55610938-55610988	HNPCEpiC	eye:	n/a
44	chr19:55607746-55607796	HMEC	breast:	n/a
45	chr19:55607746-55607796	NB4	blood:	n/a
46	chr19:55607746-55607796	HAEpiC	amniotic membrane:	n/a
47	chr19:55602822-55602872	AG09309	skin:	n/a
48	chr19:55606078-55606128	AG04449	skin:	fetal
49	chr19:55610938-55610988	LNCaP	prostate:	n/a
50	chr19:55606078-55606128	HIPEpiC	eye:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55593783..55596973-chr19:55605739..55609072,3	MCF-7	breast:
2	chr19:55592546..55594210-chr19:55609908..55612180,2	K562	blood:
3	chr19:55593011..55595756-chr19:55610334..55612446,2	MCF-7	breast:
4	chr19:55602316..55604110-chr19:55605519..55607652,3	K562	blood:
5	chr19:55605820..55607459-chr20:33871029..33872830,2	K562	blood:
6	chr19:55610882..55614666-chr19:55626430..55628703,3	MCF-7	breast:
7	chr19:55599701..55601283-chr19:55870959..55872935,2	K562	blood:
8	chr19:55549659..55551205-chr19:55608941..55611105,2	K562	blood:
9	chr19:55596751..55599239-chr19:55601936..55604534,2	MCF-7	breast:
10	chr19:55609257..55613232-chr19:55613674..55618222,6	K562	blood:
11	chr19:55591561..55594163-chr19:55604044..55608526,4	K562	blood:
12	chr19:55602316..55604110-chr19:55605519..55607652,3	K562	blood:
13	chr19:55602817..55605063-chr19:55607847..55611978,5	K562	blood:
14	chr19:55600794..55602436-chr19:55621159..55622928,2	K562	blood:
15	chr19:55606533..55609893-chr19:55627288..55629671,4	MCF-7	breast:
16	chr19:55590464..55596493-chr19:55598673..55602443,7	MCF-7	breast:
17	chr19:55601384..55605740-chr19:55625589..55630501,6	MCF-7	breast:
18	chr19:55595496..55598225-chr19:55604695..55607232,3	K562	blood:
19	chr19:55392520..55393347-chr19:55599997..55600552,2	K562	blood:
20	chr19:55606186..55608004-chr19:55668541..55670350,2	K562	blood:
21	chr19:55591759..55594046-chr19:55610178..55612180,2	K562	blood:
22	chr19:55598098..55602192-chr19:55668353..55672028,4	K562	blood:
23	chr19:55602846..55604950-chr19:55605722..55608309,2	MCF-7	breast:
24	chr19:55602846..55604950-chr19:55605722..55608309,2	MCF-7	breast:
25	chr19:55599509..55600587-chr19:55671358..55672598,4	K562	blood:
26	chr19:55599844..55600585-chr19:55657438..55658005,2	K562	blood:
27	chr19:55591466..55594430-chr19:55604044..55607280,3	K562	blood:
28	chr19:55602817..55605063-chr19:55607847..55611978,5	K562	blood:
29	chr19:55609803..55612898-chr19:55614897..55617724,3	K562	blood:
30	chr19:55596157..55598786-chr19:55610519..55612654,2	K562	blood:
31	chr19:55591269..55595027-chr19:55600800..55604307,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RDH13-2	chr19:55608731-55608751	NONHSAT067992
2	lnc-RDH13-2	chr19:55608844-55609398	NONHSAT067992

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PPP1R12C	hsa-miR-32-5p	chr19:55602402-55602423
2	PPP1R12C	hsa-miR-32-5p	chr19:55602408-55602401

Variant related genes	Relation type
PPP1R12C	TF binding region
PPP1R12C	CpG island
ENSG00000125503	chromatin interactions
ENSG00000129991	chromatin interactions
ENSG00000267577	chromatin interactions
ENSG00000105048	chromatin interactions
ENSG00000131037	chromatin interactions
ENSG00000242372	chromatin interactions
ENSG00000267110	chromatin interactions
ENSG00000167646	chromatin interactions

Extended variants
information (count: 639 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36076509	chr19:55600446-55600447	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs545465945	chr19:55600478-55600479	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs562470332	chr19:55600498-55600499	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs185537123	chr19:55600513-55600514	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs541637235	chr19:55600515-55600516	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs115703531	chr19:55600566-55600567	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs202076332	chr19:55600586-55600587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs2603702	chr19:55600591-55600592	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs200097886	chr19:55600594-55600595	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs202036217	chr19:55600595-55600596	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs527784784	chr19:55600606-55600607	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs547914995	chr19:55600707-55600708	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs147837040	chr19:55600709-55600710	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs2603701	chr19:55600736-55600737	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs34633974	chr19:55600764-55600765	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs550173313	chr19:55600774-55600775	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs73932301	chr19:55600787-55600788	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536117244	chr19:55600790-55600791	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs549603024	chr19:55600816-55600817	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs566310317	chr19:55600862-55600863	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs534897006	chr19:55600863-55600864	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs544087340	chr19:55600866-55600867	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs79006040	chr19:55600885-55600886	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs576842391	chr19:55600904-55600905	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs10408175	chr19:55600913-55600914	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs376994589	chr19:55600933-55600934	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs10406989	chr19:55600973-55600974	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs373022753	chr19:55600983-55600984	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs55650192	chr19:55600990-55600991	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs555368258	chr19:55600995-55600996	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs202124617	chr19:55601012-55601013	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs540850012	chr19:55601029-55601030	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs145316155	chr19:55601031-55601032	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs533236708	chr19:55601091-55601092	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs533240589	chr19:55601102-55601103	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs190394324	chr19:55601125-55601126	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs377346758	chr19:55601137-55601138	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs373980389	chr19:55601147-55601148	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs145110175	chr19:55601150-55601151	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs149104733	chr19:55601160-55601161	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs183022287	chr19:55601170-55601171	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs551405983	chr19:55601186-55601187	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs376900894	chr19:55601214-55601215	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs566227189	chr19:55601226-55601227	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs2603700	chr19:55601250-55601251	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs551654301	chr19:55601286-55601287	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs187120900	chr19:55601322-55601323	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs568376738	chr19:55601335-55601336	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs191655809	chr19:55601522-55601523	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs75940519	chr19:55601531-55601532	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung squamous cell carcinoma	20842114	CNVD

Chromatin state (count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55592600-55602400	Weak transcription	Hela-S3	cervix
2	chr19:55593800-55620400	Weak transcription	HMEC	breast
3	chr19:55594800-55606000	Weak transcription	HepG2	liver
4	chr19:55598000-55602000	Weak transcription	Dnd41	blood
5	chr19:55598800-55601400	Enhancers	Fetal Heart	heart
6	chr19:55599000-55603000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr19:55599200-55602000	Weak transcription	Brain Angular Gyrus	brain
8	chr19:55599200-55602400	Weak transcription	NHEK	skin
9	chr19:55599200-55626600	Weak transcription	Fetal Kidney	kidney
10	chr19:55599200-55627200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr19:55599400-55600800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:55599400-55600800	Weak transcription	A549	lung
13	chr19:55599400-55601000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr19:55599400-55601200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr19:55599400-55601200	Weak transcription	Brain Substantia Nigra	brain
16	chr19:55599400-55601800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:55599400-55602000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:55599400-55602000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:55599400-55604800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr19:55599400-55614800	Weak transcription	GM12878-XiMat	blood
21	chr19:55599600-55600600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr19:55599600-55600600	Enhancers	Left Ventricle	heart
23	chr19:55599600-55600800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:55599600-55601600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:55599600-55602000	Weak transcription	Gastric	stomach
26	chr19:55599800-55600600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr19:55599800-55600800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:55599800-55600800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:55599800-55601000	Weak transcription	Ovary	ovary
30	chr19:55599800-55601200	Enhancers	Stomach Smooth Muscle	stomach
31	chr19:55599800-55601400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:55599800-55601800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:55599800-55602000	Weak transcription	Brain Anterior Caudate	brain
34	chr19:55599800-55602000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr19:55599800-55602000	Weak transcription	Lung	lung
36	chr19:55599800-55602000	Weak transcription	Psoas Muscle	Psoas
37	chr19:55599800-55602000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr19:55599800-55602000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr19:55599800-55602200	Weak transcription	Small Intestine	intestine
40	chr19:55599800-55602400	Weak transcription	Pancreas	Pancrea
41	chr19:55599800-55626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr19:55600000-55600600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr19:55600000-55600600	Enhancers	HUVEC	blood vessel
44	chr19:55600000-55600800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr19:55600000-55600800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:55600000-55600800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:55600000-55600800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:55600000-55600800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:55600000-55600800	Weak transcription	Brain Germinal Matrix	brain
50	chr19:55600000-55600800	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links