Variant report

Variant	nsv1052499
Chromosome Location	chr14:96974524-97034805
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	ARID3A	chr14:97030779-97030978	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:96975227-96975533	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:96978913-96979336	HepG2	liver:	n/a	n/a
4	ATF1	chr14:97026028-97026228	K562	blood:	n/a	n/a
5	BACH1	chr14:97027940-97027967	K562	blood:	n/a	n/a
6	BHLHE40	chr14:96975974-96976436	GM12878	blood:	n/a	n/a
7	BHLHE40	chr14:96975224-96975384	HepG2	liver:	n/a	n/a
8	CCNT2	chr14:97033729-97033854	K562	blood:	n/a	n/a
9	CEBPB	chr14:96996751-96996882	HepG2	liver:	n/a	chr14:96996779-96996790
10	CEBPB	chr14:97025213-97025250	K562	blood:	n/a	n/a
11	CEBPB	chr14:96978860-96979289	HepG2	liver:	n/a	n/a
12	CHD1	chr14:96976251-96976351	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr14:97033560-97033850	GM12874	blood:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
14	CTCF	chr14:97030800-97030950	HCFaa	heart:	n/a	n/a
15	CTCF	chr14:97033720-97033870	BE2_C	brain:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
16	CTCF	chr14:97030800-97030950	HMEC	breast:	n/a	n/a
17	CTCF	chr14:97033716-97033881	A549	lung:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
18	CTCF	chr14:97030880-97031030	HPAF	blood vessel:	n/a	n/a
19	CTCF	chr14:97033660-97033810	HCM	heart:	n/a	n/a
20	CTCF	chr14:97033607-97034040	GM12878	blood:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
21	CTCF	chr14:97033680-97033830	HEK293	kidney:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
22	CTCF	chr14:97033567-97033964	A549	lung:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
23	CTCF	chr14:97033700-97033850	GM12864	blood:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
24	CTCF	chr14:97033700-97033850	GM12801	blood:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
25	CTCF	chr14:97033731-97033863	GM20000	blood:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
26	CTCF	chr14:97034100-97034250	GM12872	blood:	n/a	n/a
27	CTCF	chr14:97033700-97033850	MCF-7	breast:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
28	CTCF	chr14:97033780-97034030	A549	lung:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
29	CTCF	chr14:97033780-97033930	HFF-Myc	foreskin:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
30	CTCF	chr14:97033666-97033955	K562	blood:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
31	CTCF	chr14:97033702-97033914	MCF-7	breast:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
32	CTCF	chr14:97030900-97031050	BE2_C	brain:	n/a	n/a
33	CTCF	chr14:97033720-97033870	GM12875	blood:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
34	CTCF	chr14:97031360-97031510	MCF-7	breast:	n/a	n/a
35	CTCF	chr14:97030855-97030981	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr14:97033804-97033806	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:97033693-97033884	LNCaP	prostate:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
38	CTCF	chr14:97030820-97030970	AG10803	skin:	n/a	n/a
39	CTCF	chr14:97033706-97033873	GM13976	blood:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
40	CTCF	chr14:97033216-97034581	A549	lung:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
41	CTCF	chr14:97033720-97033870	SAEC	small airway:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
42	CTCF	chr14:97033718-97033904	GM10266	blood:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
43	CTCF	chr14:97030880-97031030	GM06990	blood:	n/a	n/a
44	CTCF	chr14:97033760-97033910	HRE	kidney:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
45	CTCF	chr14:97033700-97033850	GM12871	blood:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
46	CTCF	chr14:97033720-97033870	GM12870	blood:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
47	CTCF	chr14:97033700-97033850	AoAF	blood vessel:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
48	CTCF	chr14:97033760-97033910	AoAF	blood vessel:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821
49	CTCF	chr14:97030810-97031006	IMR90	lung:	n/a	n/a
50	CTCF	chr14:97033720-97033870	HEEpiC	esophagus:	n/a	chr14:97033807-97033820 chr14:97033804-97033822 chr14:97033806-97033827 chr14:97033805-97033821

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:97031960-97032010	PANC-1	pancreas:	n/a
2	chr14:97031960-97032010	AG04450	lung:	fetal
3	chr14:97031960-97032010	HPAEpiC	pulmonary alveolar:	n/a
4	chr14:96978537-96978587	HCM	heart:	n/a
5	chr14:97031960-97032010	HL-60	blood:	n/a
6	chr14:96978537-96978587	MCF-7	breast:	n/a
7	chr14:97031960-97032010	GM06990	blood:	n/a
8	chr14:96978537-96978587	A549	lung:	n/a
9	chr14:96978537-96978587	BE2_C	brain:	n/a
10	chr14:96978537-96978587	NB4	blood:	n/a
11	chr14:97019527-97019577	T-47D	breast:	n/a
12	chr14:96978537-96978587	AG04450	lung:	fetal
13	chr14:97019527-97019577	AG09309	skin:	n/a
14	chr14:96978537-96978587	NHDF-neo	bronchial:	n/a
15	chr14:97019527-97019577	HNPCEpiC	eye:	n/a
16	chr14:97031960-97032010	MCF-7	breast:	n/a
17	chr14:97031960-97032010	Hela-S3	cervix:	n/a
18	chr14:97019527-97019577	HRPEpiC	eye:	n/a
19	chr14:97019527-97019577	SAEC	small airway:	n/a
20	chr14:97031960-97032010	HRCEpiC	kidney:	n/a
21	chr14:97031960-97032010	SK-N-SH	brain:	n/a
22	chr14:96978537-96978587	Jurkat	blood:	n/a
23	chr14:97019527-97019577	AG10803	skin:	n/a
24	chr14:97031960-97032010	HNPCEpiC	eye:	n/a
25	chr14:96978537-96978587	SK-N-MC	brain:	n/a
26	chr14:96978537-96978587	AG10803	skin:	n/a
27	chr14:97019527-97019577	K562	blood:	n/a
28	chr14:97019527-97019577	Hepatocyte	liver:	n/a
29	chr14:96978537-96978587	HRPEpiC	eye:	n/a
30	chr14:96978537-96978587	BJ	skin:	n/a
31	chr14:97031960-97032010	GM12878	blood:	n/a
32	chr14:97019527-97019577	PFSK-1	brain:	n/a
33	chr14:96978537-96978587	RPTEC	kidney:	n/a
34	chr14:97019527-97019577	GM19239	blood:	n/a
35	chr14:97031960-97032010	AG09309	skin:	n/a
36	chr14:97031960-97032010	SK-N-MC	brain:	n/a
37	chr14:96978537-96978587	HPAEpiC	pulmonary alveolar:	n/a
38	chr14:97031960-97032010	AoSMC	blood vessel:	n/a
39	chr14:97019527-97019577	GM06990	blood:	n/a
40	chr14:97031960-97032010	LNCaP	prostate:	n/a
41	chr14:97019527-97019577	ECC-1	luminal epithelium:	n/a
42	chr14:96978537-96978587	SAEC	small airway:	n/a
43	chr14:96978537-96978587	H1-hESC	embryonic stem cell:	embryo
44	chr14:97031960-97032010	PFSK-1	brain:	n/a
45	chr14:96978537-96978587	AG04449	skin:	fetal
46	chr14:96978537-96978587	ovcar-3	ovarian:	n/a
47	chr14:97019527-97019577	U87	brain:	n/a
48	chr14:96978537-96978587	HEK293	kidney:	embryo
49	chr14:97031960-97032010	HepG2	liver:	n/a
50	chr14:97031960-97032010	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:96989700..96992252-chr14:96995292..96996938,2	MCF-7	breast:
2	chr14:96998656..97003736-chr14:97006318..97010679,5	MCF-7	breast:
3	chr14:96980357..96982346-chr14:96989639..96991890,2	MCF-7	breast:
4	chr14:96989613..96991388-chr14:96992755..96994484,2	K562	blood:
5	chr14:96968041..96970064-chr14:96987625..96989616,3	MCF-7	breast:
6	chr14:96998941..97001776-chr14:97003511..97005211,2	MCF-7	breast:
7	chr14:96968318..96970026-chr14:96990174..96992851,2	K562	blood:
8	chr14:96967041..96969469-chr14:97004339..97006247,2	MCF-7	breast:
9	chr14:97024529..97026540-chr14:97633465..97635443,2	K562	blood:
10	chr14:97007480..97011210-chr14:97011511..97014615,3	K562	blood:
11	chr14:96989700..96992252-chr14:96995292..96996938,2	MCF-7	breast:
12	chr14:96977217..96979586-chr14:96982926..96984761,2	MCF-7	breast:
13	chr14:97018033..97019612-chr14:97020291..97022357,2	K562	blood:
14	chr14:97033169..97036076-chr14:97041923..97044671,2	MCF-7	breast:
15	chr14:96973732..96976070-chr14:96984297..96985956,2	K562	blood:
16	chr14:96977104..96978800-chr20:30195099..30197047,2	MCF-7	breast:
17	chr14:97006749..97008466-chr14:97026369..97029131,2	MCF-7	breast:
18	chr14:96988073..96990786-chr14:96992864..96995262,2	MCF-7	breast:
19	chr14:96999522..97003460-chr14:97003745..97007468,4	K562	blood:
20	chr14:96975313..96976857-chr14:96978601..96981439,2	MCF-7	breast:
21	chr14:96968572..96970585-chr14:96987828..96990250,2	K562	blood:
22	chr14:96992168..96995386-chr14:96999762..97002036,3	MCF-7	breast:
23	chr14:96947839..96950152-chr14:96988315..96991118,2	K562	blood:
24	chr14:97023617..97026546-chr14:97637896..97640052,3	K562	blood:
25	chr14:96968706..96970870-chr14:96989041..96991198,2	MCF-7	breast:
26	chr14:96997411..96999330-chr14:97015854..97017598,2	MCF-7	breast:
27	chr14:96967059..96968706-chr14:97003755..97006595,2	K562	blood:
28	chr14:96967956..96970809-chr14:96981741..96983595,3	MCF-7	breast:
29	chr14:97011141..97013270-chr14:97015044..97017205,2	K562	blood:
30	chr14:96997411..96999330-chr14:97015854..97017598,2	MCF-7	breast:
31	chr14:96977217..96979586-chr14:96982926..96984761,2	MCF-7	breast:
32	chr14:96975313..96976857-chr14:96978601..96981439,2	MCF-7	breast:
33	chr14:97034631..97037578-chr14:97040490..97042712,2	K562	blood:
34	chr14:96991877..96993555-chr14:97010853..97012624,2	MCF-7	breast:
35	chr14:97032756..97036569-chr14:97036806..97040099,4	K562	blood:
36	chr14:97007480..97011210-chr14:97011511..97014615,3	K562	blood:
37	chr14:96966203..96970615-chr14:96984362..96986675,5	MCF-7	breast:
38	chr14:96973732..96976070-chr14:96984297..96985956,2	K562	blood:
39	chr14:97030602..97033303-chr14:97033642..97035609,3	K562	blood:
40	chr14:97030602..97033303-chr14:97033642..97035609,3	K562	blood:
41	chr14:97006749..97008466-chr14:97026369..97029131,2	MCF-7	breast:
42	chr14:96967194..96972735-chr14:96975570..96985371,13	K562	blood:
43	chr14:96980482..96982184-chr14:96985254..96987490,2	K562	blood:
44	chr14:96968705..96971658-chr14:97028687..97030507,2	MCF-7	breast:
45	chr14:96967004..96969133-chr14:97009562..97011863,2	MCF-7	breast:
46	chr14:97010400..97013410-chr14:97024824..97026785,3	K562	blood:
47	chr14:96965294..96968379-chr14:96992362..96994561,3	MCF-7	breast:
48	chr14:96967059..96970873-chr14:97003621..97006595,4	K562	blood:
49	chr14:96985630..96987652-chr14:97013134..97015914,2	MCF-7	breast:
50	chr14:96985630..96987652-chr14:97013134..97015914,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AK7-5	chr14:97028795-97029230	NONHSAT039542
2	lnc-PAPOLA-2	chr14:96994960-96995017	ucscGeneNc_uc001yfu_2
3	lnc-AK7-5	chr14:97031292-97031443	NONHSAT039542
4	lnc-PAPOLA-2	chr14:96999722-97000248	ucscGeneNc_uc001yfu_2
5	lnc-PAPOLA-2	chr14:96997894-96998422	ucscGeneNc_uc001yfu_2

No.	miRNA target gene	miRNA name	Chromosome Location
1	PAPOLA	hsa-miR-155-5p	chr14:97031585-97031607
2	PAPOLA	hsa-miR-93-5p	chr14:97031736-97031760
3	PAPOLA	hsa-miR-93-5p	chr14:97031753-97031759
4	PAPOLA	hsa-miR-320a	chr14:97031785-97031808
5	PAPOLA	hsa-miR-155-5p	chr14:96998551-96998571

Variant related genes	Relation type
PAPOLA	TF binding region
PAPOLA	CpG island
ENSG00000260806	chromatin interactions
ENSG00000140057	chromatin interactions
ENSG00000090060	chromatin interactions

Extended variants
information (count: 2191 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2191 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558476618	chr14:96974527-96974528	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565263870	chr14:96974543-96974544	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs575229134	chr14:96974570-96974571	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs78652901	chr14:96974572-96974573	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs371578053	chr14:96974595-96974596	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs74356991	chr14:96974597-96974598	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs74821800	chr14:96974632-96974633	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564544692	chr14:96974653-96974654	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs544241590	chr14:96974712-96974713	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs61570427	chr14:96974750-96974751	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550504653	chr14:96974783-96974784	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs181977445	chr14:96974840-96974841	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs528943248	chr14:96974879-96974880	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs374011985	chr14:96974880-96974881	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs565802642	chr14:96974929-96974930	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs112874598	chr14:96974941-96974942	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs539235416	chr14:96974956-96974957	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs367745181	chr14:96974965-96974966	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs557907714	chr14:96975031-96975032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567717644	chr14:96975039-96975040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187570037	chr14:96975090-96975091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536909069	chr14:96975121-96975122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555247640	chr14:96975138-96975139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574492612	chr14:96975140-96975141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542239164	chr14:96975154-96975155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191409845	chr14:96975185-96975186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572473572	chr14:96975261-96975262	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs55747410	chr14:96975299-96975300	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs564660899	chr14:96975300-96975301	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs531944246	chr14:96975302-96975303	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs544124802	chr14:96975377-96975378	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs562408659	chr14:96975403-96975404	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs528881152	chr14:96975478-96975479	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs547398096	chr14:96975495-96975496	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs565562920	chr14:96975499-96975500	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs547911876	chr14:96975510-96975511	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs551198522	chr14:96975515-96975516	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs183685974	chr14:96975519-96975520	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs137931874	chr14:96975527-96975528	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs542433415	chr14:96975556-96975557	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs559514528	chr14:96975558-96975559	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs113718286	chr14:96975586-96975587	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs368138921	chr14:96975604-96975605	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs567813701	chr14:96975608-96975609	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs112527384	chr14:96975616-96975617	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs75650179	chr14:96975633-96975634	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs112002232	chr14:96975649-96975650	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs572358032	chr14:96975690-96975691	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs539874079	chr14:96975693-96975694	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs117915648	chr14:96975694-96975695	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Glioblastoma	21080181	CNVD
Cancer	20164920	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Breast cancer	21509527	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	17426248	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1781 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96969800-96975400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:96970000-96979200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:96970000-96979600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:96970000-96984600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:96970000-96987000	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:96970200-96977600	Weak transcription	Aorta	Aorta
7	chr14:96970200-96979400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:96970600-96978400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr14:96970600-96982200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:96970600-96984400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr14:96970600-96987800	Weak transcription	Fetal Stomach	stomach
12	chr14:96970600-96990600	Weak transcription	NH-A	brain
13	chr14:96970600-96991200	Weak transcription	Fetal Kidney	kidney
14	chr14:96970800-96975400	Weak transcription	NHDF-Ad	bronchial
15	chr14:96970800-96982000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr14:96970800-96987400	Weak transcription	HSMM	muscle
17	chr14:96970800-96988400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:96971000-96975200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:96971000-96975400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:96971000-96975400	Weak transcription	Pancreas	Pancrea
21	chr14:96971000-96976600	Weak transcription	Fetal Brain Male	brain
22	chr14:96971200-96975400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:96971200-96978400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr14:96971200-96981200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:96971200-96987400	Weak transcription	Osteobl	bone
26	chr14:96971400-96975000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr14:96971400-96979400	Weak transcription	Placenta	Placenta
28	chr14:96971600-96975000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:96971600-96989800	Weak transcription	NHLF	lung
30	chr14:96971800-96974800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:96971800-96977400	Weak transcription	Brain Anterior Caudate	brain
32	chr14:96971800-96977600	Weak transcription	Stomach Mucosa	stomach
33	chr14:96971800-96977800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:96971800-96977800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr14:96971800-96978200	Weak transcription	Fetal Intestine Small	intestine
36	chr14:96971800-96980600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr14:96971800-96990800	Weak transcription	HMEC	breast
38	chr14:96971800-96991000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr14:96972000-96975000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:96972000-96975200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:96972000-96975200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:96972000-96975400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr14:96972000-96975800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:96972000-96984800	Enhancers	Primary T cells from cord blood	blood
45	chr14:96972200-96974600	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:96972200-96974600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr14:96972200-96974800	Weak transcription	Adipose Nuclei	Adipose
48	chr14:96972200-96974800	Weak transcription	Brain Angular Gyrus	brain
49	chr14:96972200-96974800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:96972200-96974800	Weak transcription	HUVEC	blood vessel

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