Variant report

Variant	esv3391681
Chromosome Location	chr19:41192212-41196610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:41193386-41193849	K562	blood:	n/a	n/a
2	ATF2	chr19:41193253-41193920	GM12878	blood:	n/a	chr19:41193593-41193604
3	ATF2	chr19:41193129-41193822	GM12878	blood:	n/a	chr19:41193593-41193604
4	BACH1	chr19:41196429-41197750	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr19:41196259-41196746	GM12878	blood:	n/a	chr19:41196618-41196631 chr19:41196323-41196332 chr19:41196565-41196574
6	BCL3	chr19:41194463-41195376	GM12878	blood:	n/a	n/a
7	BCL3	chr19:41196277-41197355	A549	lung:	n/a	chr19:41196935-41196948 chr19:41197090-41197099 chr19:41196936-41196949 chr19:41196618-41196631 chr19:41197093-41197102 chr19:41196323-41196332 chr19:41196565-41196574
8	BCL3	chr19:41193330-41194030	GM12878	blood:	n/a	n/a
9	BCL3	chr19:41193138-41194079	GM12878	blood:	n/a	n/a
10	BCL3	chr19:41195718-41198312	A549	lung:	n/a	chr19:41196105-41196114 chr19:41196935-41196948 chr19:41197090-41197099 chr19:41196936-41196949 chr19:41196618-41196631 chr19:41197093-41197102 chr19:41196323-41196332 chr19:41196565-41196574
11	BCL3	chr19:41192279-41192784	GM12878	blood:	n/a	chr19:41192743-41192751
12	BCL3	chr19:41194296-41195647	GM12878	blood:	n/a	n/a
13	BCL3	chr19:41192246-41192782	GM12878	blood:	n/a	chr19:41192743-41192751
14	BHLHE40	chr19:41193321-41193981	K562	blood:	n/a	n/a
15	BHLHE40	chr19:41196372-41197446	GM12878	blood:	n/a	chr19:41196435-41196451 chr19:41196488-41196504 chr19:41197259-41197275 chr19:41196943-41196959
16	BHLHE40	chr19:41196334-41197658	K562	blood:	n/a	chr19:41196435-41196451 chr19:41196488-41196504 chr19:41197259-41197275 chr19:41196943-41196959
17	BHLHE40	chr19:41193254-41193697	GM12878	blood:	n/a	n/a
18	BHLHE40	chr19:41195458-41195464	K562	blood:	n/a	n/a
19	CBX3	chr19:41195112-41195574	K562	blood:	n/a	n/a
20	CBX3	chr19:41193033-41194110	K562	blood:	n/a	n/a
21	CBX3	chr19:41196568-41197813	K562	blood:	n/a	n/a
22	CCNT2	chr19:41193412-41193580	K562	blood:	n/a	n/a
23	CCNT2	chr19:41196266-41197416	K562	blood:	n/a	chr19:41197271-41197280 chr19:41196983-41196992 chr19:41196600-41196609 chr19:41197403-41197412 chr19:41196564-41196573 chr19:41196498-41196507
24	CEBPB	chr19:41193418-41193791	K562	blood:	n/a	n/a
25	CHD1	chr19:41192595-41197591	IMR90	lung:	n/a	chr19:41196943-41196953 chr19:41196593-41196603
26	CHD2	chr19:41196420-41196982	H1-hESC	embryonic stem cell:	n/a	chr19:41196943-41196953 chr19:41196593-41196603
27	CHD2	chr19:41193256-41193983	GM12878	blood:	n/a	n/a
28	CHD2	chr19:41196455-41197398	GM12878	blood:	n/a	chr19:41196943-41196953 chr19:41196593-41196603
29	CHD2	chr19:41196409-41197280	Hela-S3	cervix:	n/a	chr19:41196943-41196953 chr19:41196593-41196603
30	CHD2	chr19:41195544-41195625	K562	blood:	n/a	n/a
31	CREB1	chr19:41196306-41197065	A549	lung:	n/a	n/a
32	CREB1	chr19:41196094-41197627	A549	lung:	n/a	n/a
33	CREB1	chr19:41195289-41196048	A549	lung:	n/a	n/a
34	CTCF	chr19:41193060-41193210	GM12864	blood:	n/a	n/a
35	CTCF	chr19:41195321-41195448	GM19239	blood:	n/a	n/a
36	CUX1	chr19:41193373-41193556	GM12878	blood:	n/a	n/a
37	E2F4	chr19:41196452-41197415	K562	blood:	n/a	chr19:41196618-41196627 chr19:41196564-41196573 chr19:41196942-41196951 chr19:41196463-41196473 chr19:41197091-41197100 chr19:41196564-41196576
38	E2F4	chr19:41196522-41197001	MCF10A-Er-Src	breast:	n/a	chr19:41196618-41196627 chr19:41196564-41196573 chr19:41196942-41196951 chr19:41196564-41196576
39	E2F6	chr19:41196534-41196846	K562	blood:	n/a	chr19:41196618-41196627 chr19:41196564-41196573 chr19:41196564-41196576
40	E2F6	chr19:41196527-41197466	H1-hESC	embryonic stem cell:	n/a	chr19:41196618-41196627 chr19:41196564-41196573 chr19:41196942-41196951 chr19:41197091-41197100 chr19:41196564-41196576
41	E2F6	chr19:41196286-41197636	K562	blood:	n/a	chr19:41196618-41196627 chr19:41196564-41196573 chr19:41196942-41196951 chr19:41196463-41196473 chr19:41197091-41197100 chr19:41196347-41196359 chr19:41196564-41196576
42	E2F6	chr19:41196449-41197769	H1-hESC	embryonic stem cell:	n/a	chr19:41196618-41196627 chr19:41196564-41196573 chr19:41196942-41196951 chr19:41196463-41196473 chr19:41197091-41197100 chr19:41196564-41196576
43	E2F6	chr19:41196144-41197720	K562	blood:	n/a	chr19:41196618-41196627 chr19:41196564-41196573 chr19:41196942-41196951 chr19:41196463-41196473 chr19:41197091-41197100 chr19:41196347-41196359 chr19:41196564-41196576
44	E2F6	chr19:41195999-41197721	A549	lung:	n/a	chr19:41196618-41196627 chr19:41196564-41196573 chr19:41196942-41196951 chr19:41196463-41196473 chr19:41197091-41197100 chr19:41196347-41196359 chr19:41196564-41196576
45	E2F6	chr19:41196499-41197507	A549	lung:	n/a	chr19:41196618-41196627 chr19:41196564-41196573 chr19:41196942-41196951 chr19:41197091-41197100 chr19:41196564-41196576
46	EBF1	chr19:41195333-41195678	GM12878	blood:	n/a	chr19:41195529-41195538 chr19:41195529-41195538 chr19:41195527-41195540 chr19:41195528-41195539 chr19:41195529-41195539
47	EBF1	chr19:41195310-41195671	GM12878	blood:	n/a	chr19:41195529-41195538 chr19:41195529-41195538 chr19:41195527-41195540 chr19:41195528-41195539 chr19:41195529-41195539
48	EBF1	chr19:41196417-41196666	GM12878	blood:	n/a	n/a
49	EBF1	chr19:41196340-41196857	GM12878	blood:	n/a	n/a
50	EBF1	chr19:41196315-41196884	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41196603-41196653	LNCaP	prostate:	n/a
2	chr19:41196603-41196653	LNCaP	prostate:	n/a
3	chr19:41196598-41196648	HRCEpiC	kidney:	n/a
4	chr19:41195910-41195960	Caco-2	colon:	n/a
5	chr19:41196577-41196627	MCF10A-Er-Src	breast:	n/a
6	chr19:41193662-41193712	NH-A	brain:	n/a
7	chr19:41196603-41196653	CMK	blood:	n/a
8	chr19:41196524-41196574	NT2-D1	testis:	n/a
9	chr19:41196603-41196653	H1-hESC	embryonic stem cell:	embryo
10	chr19:41196577-41196627	PANC-1	pancreas:	n/a
11	chr19:41196524-41196574	PFSK-1	brain:	n/a
12	chr19:41196598-41196648	AG10803	skin:	n/a
13	chr19:41196603-41196653	NH-A	brain:	n/a
14	chr19:41196577-41196627	SK-N-SH	brain:	n/a
15	chr19:41193662-41193712	GM12891	blood:	n/a
16	chr19:41196598-41196648	AoSMC	blood vessel:	n/a
17	chr19:41196603-41196653	HEEpiC	esophagus:	n/a
18	chr19:41196603-41196653	K562	blood:	n/a
19	chr19:41195910-41195960	AG04450	lung:	fetal
20	chr19:41193662-41193712	AG04449	skin:	fetal
21	chr19:41195910-41195960	Hela-S3	cervix:	n/a
22	chr19:41196598-41196648	NB4	blood:	n/a
23	chr19:41196598-41196648	U87	brain:	n/a
24	chr19:41196577-41196627	NHBE	bronchial:	n/a
25	chr19:41196577-41196627	U87	brain:	n/a
26	chr19:41196598-41196648	GM12878	blood:	n/a
27	chr19:41196577-41196627	HRCEpiC	kidney:	n/a
28	chr19:41196577-41196627	HMEC	breast:	n/a
29	chr19:41195910-41195960	HRPEpiC	eye:	n/a
30	chr19:41196577-41196627	Hela-S3	cervix:	n/a
31	chr19:41196524-41196574	BJ	skin:	n/a
32	chr19:41193662-41193712	PrEC	prostate:	n/a
33	chr19:41196603-41196653	HMEC	breast:	n/a
34	chr19:41196598-41196648	BE2_C	brain:	n/a
35	chr19:41193662-41193712	GM19239	blood:	n/a
36	chr19:41196524-41196574	HCF	heart:	n/a
37	chr19:41196524-41196574	AG04449	skin:	fetal
38	chr19:41193662-41193712	Jurkat	blood:	n/a
39	chr19:41196603-41196653	T-47D	breast:	n/a
40	chr19:41196598-41196648	SAEC	small airway:	n/a
41	chr19:41196603-41196653	SK-N-SH	brain:	n/a
42	chr19:41193662-41193712	HCT-116	colon:	n/a
43	chr19:41196577-41196627	K562	blood:	n/a
44	chr19:41196603-41196653	U87	brain:	n/a
45	chr19:41196598-41196648	AG04450	lung:	fetal
46	chr19:41193662-41193712	ProgFib	skin:	n/a
47	chr19:41196598-41196648	NHBE	bronchial:	n/a
48	chr19:41196598-41196648	PrEC	prostate:	n/a
49	chr19:41196598-41196648	HAEpiC	amniotic membrane:	n/a
50	chr19:41196577-41196627	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41195613..41198968-chr19:41260956..41263433,3	MCF-7	breast:
2	chr19:41191453..41200740-chr19:41219595..41226457,20	MCF-7	breast:
3	chr19:41195052..41198475-chr19:41206836..41210574,5	K562	blood:
4	chr19:41195540..41197710-chr19:41283825..41285603,2	MCF-7	breast:
5	chr19:41185972..41188881-chr19:41192870..41195079,2	K562	blood:
6	chr19:41185927..41189025-chr19:41189587..41192782,3	K562	blood:
7	chr19:41194241..41200533-chr19:41254244..41257966,10	K562	blood:
8	chr19:41191561..41193487-chr19:41256304..41257809,2	K562	blood:
9	chr19:41193720..41198590-chr19:41218677..41224410,19	MCF-7	breast:
10	chr19:41194241..41198233-chr19:41254859..41260401,9	K562	blood:
11	chr19:41191987..41193561-chr19:41255476..41257809,2	K562	blood:
12	chr19:41193182..41199089-chr19:41206241..41209564,9	MCF-7	breast:
13	chr19:41195260..41197933-chr19:41310864..41312582,2	K562	blood:
14	chr19:41195568..41198287-chr19:41219071..41220657,2	K562	blood:
15	chr19:41191702..41194594-chr19:41196563..41198200,2	MCF-7	breast:
16	chr19:41193560..41201987-chr19:41206623..41212331,16	K562	blood:
17	chr19:41191702..41194594-chr19:41196563..41198200,2	MCF-7	breast:
18	chr19:41194676..41198444-chr19:41254531..41258137,9	MCF-7	breast:
19	chr17:58677556..58678402-chr19:41196609..41197419,2	MCF-7	breast:
20	chr19:41191573..41194549-chr19:41222613..41224121,2	K562	blood:
21	chr16:47007686..47008500-chr19:41196000..41196982,2	Hela-S3	cervix:
22	chr19:41192210..41194375-chr19:41305816..41308792,2	MCF-7	breast:
23	chr19:41196036..41196567-chr4:56412258..56412956,2	Hela-S3	cervix:
24	chr19:41194805..41199772-chr19:41221674..41225965,11	K562	blood:
25	chr19:41193561..41199772-chr19:41221208..41225709,11	K562	blood:
26	chr19:41195631..41198231-chr19:41282908..41284681,3	K562	blood:
27	chr12:52444850..52445359-chr19:41196019..41196928,2	Hela-S3	cervix:
28	chr19:41186952..41192144-chr19:41192156..41195982,8	MCF-7	breast:
29	chr19:41194976..41197680-chr19:41213933..41216402,2	MCF-7	breast:

Variant related genes	Relation type
NUMBL	TF binding region
NUMBL	CpG island
ENSG00000188493	chromatin interactions
ENSG00000069345	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000268797	chromatin interactions
ENSG00000269858	chromatin interactions
ENSG00000261173	chromatin interactions
ENSG00000170836	chromatin interactions
ENSG00000171570	chromatin interactions
ENSG00000167578	chromatin interactions
ENSG00000223284	chromatin interactions
ENSG00000086544	chromatin interactions
ENSG00000105245	chromatin interactions
ENSG00000077312	chromatin interactions
ENSG00000123815	chromatin interactions
ENSG00000134852	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530135438	chr19:41192233-41192234	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs370520373	chr19:41192279-41192280	Weak transcription Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs141940188	chr19:41192282-41192283	Weak transcription Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs60715892	chr19:41192285-41192286	Weak transcription Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs71334932	chr19:41192286-41192287	Weak transcription Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs113782101	chr19:41192289-41192290	Weak transcription Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs571689853	chr19:41192297-41192298	Weak transcription Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs10402624	chr19:41192310-41192311	Weak transcription Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs554462044	chr19:41192313-41192314	Weak transcription Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs193210261	chr19:41192329-41192330	Weak transcription Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs543614686	chr19:41192374-41192375	Weak transcription Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs564886011	chr19:41192413-41192414	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs10401344	chr19:41192417-41192418	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs149154396	chr19:41192418-41192419	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs148638454	chr19:41192455-41192456	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs560506274	chr19:41192456-41192457	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs140539259	chr19:41192463-41192464	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs72170626	chr19:41192465-41192466	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs143291806	chr19:41192467-41192468	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs60843360	chr19:41192468-41192469	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs79759320	chr19:41192469-41192470	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs73931349	chr19:41192475-41192476	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs372662562	chr19:41192489-41192490	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs151247840	chr19:41192539-41192540	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs147355867	chr19:41192563-41192564	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs11669731	chr19:41192585-41192586	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550394668	chr19:41192609-41192610	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs368405106	chr19:41192610-41192611	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs72191048	chr19:41192611-41192612	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs59474513	chr19:41192612-41192613	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs371757608	chr19:41192613-41192614	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs200137655	chr19:41192614-41192615	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs376023174	chr19:41192615-41192616	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs368999938	chr19:41192616-41192617	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs59449188	chr19:41192617-41192618	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs547065420	chr19:41192626-41192627	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs77286649	chr19:41192638-41192639	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs535863643	chr19:41192646-41192647	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs77118553	chr19:41192662-41192663	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs565931859	chr19:41192678-41192679	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs569938209	chr19:41192681-41192682	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs11880960	chr19:41192715-41192716	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563400452	chr19:41192747-41192748	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs369679561	chr19:41192751-41192752	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs536945428	chr19:41192769-41192770	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs546456636	chr19:41192809-41192810	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs558759303	chr19:41192850-41192851	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs576949876	chr19:41192879-41192880	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs545547903	chr19:41192909-41192910	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs185604134	chr19:41192968-41192969	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	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
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41169800-41195400	Weak transcription	Psoas Muscle	Psoas
2	chr19:41172000-41193000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr19:41172600-41193400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:41172600-41193600	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr19:41172800-41192800	Strong transcription	Adipose Nuclei	Adipose
6	chr19:41172800-41193200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:41172800-41193200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:41173000-41192800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr19:41173000-41192800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:41173000-41192800	Strong transcription	Ovary	ovary
11	chr19:41173000-41193200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr19:41173000-41193200	Strong transcription	Osteobl	bone
13	chr19:41173200-41192600	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr19:41173200-41192800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:41173200-41193200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:41174200-41193200	Strong transcription	Colon Smooth Muscle	Colon
17	chr19:41175800-41192600	Strong transcription	Fetal Muscle Leg	muscle
18	chr19:41175800-41192800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:41175800-41194200	Weak transcription	Fetal Heart	heart
20	chr19:41175800-41196000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr19:41176000-41192800	Weak transcription	GM12878-XiMat	blood
22	chr19:41176000-41195200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:41176200-41193200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:41176200-41193200	Strong transcription	Fetal Intestine Small	intestine
25	chr19:41176200-41195600	Weak transcription	Small Intestine	intestine
26	chr19:41176600-41193200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:41176800-41193000	Strong transcription	Fetal Stomach	stomach
28	chr19:41176800-41193200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:41176800-41193200	Strong transcription	Brain Germinal Matrix	brain
30	chr19:41178800-41193200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr19:41179200-41194800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr19:41179200-41195800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr19:41179600-41193000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr19:41179800-41196000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr19:41180400-41192600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:41180600-41192600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:41180800-41193200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:41180800-41193600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:41181000-41192600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:41181200-41195200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr19:41181800-41192800	Strong transcription	Brain Hippocampus Middle	brain
42	chr19:41182200-41193200	Strong transcription	A549	lung
43	chr19:41184200-41193800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr19:41184400-41193000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr19:41184600-41194800	Weak transcription	Fetal Thymus	thymus
46	chr19:41185400-41192800	Strong transcription	Brain Cingulate Gyrus	brain
47	chr19:41185800-41193200	Strong transcription	Aorta	Aorta
48	chr19:41186400-41193000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr19:41186400-41193200	Strong transcription	NHLF	lung
50	chr19:41186600-41193000	Strong transcription	Spleen	Spleen

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