Variant report

Variant	nsv1048072
Chromosome Location	chr14:22381424-22394436
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	chr14:22382007-22382328	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:22385887-22386446	HepG2	liver:	n/a	n/a
3	ATF3	chr14:22385683-22386371	A549	lung:	n/a	n/a
4	ATF3	chr14:22385671-22386303	A549	lung:	n/a	n/a
5	BCL3	chr14:22385683-22386287	A549	lung:	n/a	chr14:22386028-22386037 chr14:22386029-22386038
6	BCL3	chr14:22385601-22386437	A549	lung:	n/a	chr14:22386028-22386037 chr14:22386029-22386038
7	BHLHE40	chr14:22386172-22386257	K562	blood:	n/a	n/a
8	BHLHE40	chr14:22382000-22382307	K562	blood:	n/a	n/a
9	BHLHE40	chr14:22382030-22382321	HepG2	liver:	n/a	n/a
10	CEBPB	chr14:22385759-22386262	A549	lung:	n/a	chr14:22386039-22386052
11	CEBPB	chr14:22385716-22386286	A549	lung:	n/a	chr14:22386039-22386052
12	CEBPB	chr14:22385683-22386219	MCF-7	breast:	n/a	chr14:22386039-22386052
13	CEBPB	chr14:22385599-22386329	A549	lung:	n/a	chr14:22386039-22386052 chr14:22385679-22385691
14	CTCF	chr14:22386160-22386310	GM12801	blood:	n/a	chr14:22386199-22386215 chr14:22386198-22386216 chr14:22386200-22386221
15	CTCF	chr14:22385740-22386598	A549	lung:	n/a	chr14:22386199-22386215 chr14:22386198-22386216 chr14:22386564-22386572 chr14:22386200-22386221
16	CTCF	chr14:22382001-22382378	GM10248	blood:	n/a	chr14:22382115-22382133 chr14:22382118-22382131 chr14:22382118-22382127 chr14:22382116-22382132 chr14:22382117-22382138
17	CTCF	chr14:22386100-22386250	GM12864	blood:	n/a	chr14:22386199-22386215 chr14:22386198-22386216 chr14:22386200-22386221
18	CTCF	chr14:22382060-22382210	HPF	lung:	n/a	chr14:22382115-22382133 chr14:22382118-22382131 chr14:22382118-22382127 chr14:22382116-22382132 chr14:22382117-22382138
19	CTCF	chr14:22382140-22382290	GM12869	blood:	n/a	n/a
20	CTCF	chr14:22382040-22382190	BJ	skin:	n/a	chr14:22382115-22382133 chr14:22382118-22382131 chr14:22382118-22382127 chr14:22382116-22382132 chr14:22382117-22382138
21	CTCF	chr14:22382017-22382262	Lung_OC	lung:	n/a	chr14:22382115-22382133 chr14:22382118-22382131 chr14:22382118-22382127 chr14:22382116-22382132 chr14:22382117-22382138
22	CTCF	chr14:22385880-22386030	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr14:22392847-22392972	GM19240	blood:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
24	CTCF	chr14:22386140-22386290	HPF	lung:	n/a	chr14:22386199-22386215 chr14:22386198-22386216 chr14:22386200-22386221
25	CTCF	chr14:22387600-22387750	GM06990	blood:	n/a	n/a
26	CTCF	chr14:22382040-22382190	HCFaa	heart:	n/a	chr14:22382115-22382133 chr14:22382118-22382131 chr14:22382118-22382127 chr14:22382116-22382132 chr14:22382117-22382138
27	CTCF	chr14:22381997-22382250	Gliobla	brain:	n/a	chr14:22382115-22382133 chr14:22382118-22382131 chr14:22382118-22382127 chr14:22382116-22382132 chr14:22382117-22382138
28	CTCF	chr14:22382040-22382190	AG10803	skin:	n/a	chr14:22382115-22382133 chr14:22382118-22382131 chr14:22382118-22382127 chr14:22382116-22382132 chr14:22382117-22382138
29	CTCF	chr14:22386140-22386290	AG09319	gingival:	n/a	chr14:22386199-22386215 chr14:22386198-22386216 chr14:22386200-22386221
30	CTCF	chr14:22386140-22386290	GM12873	blood:	n/a	chr14:22386199-22386215 chr14:22386198-22386216 chr14:22386200-22386221
31	CTCF	chr14:22381998-22382211	Pancreas_OC	pancreas:	n/a	chr14:22382115-22382133 chr14:22382118-22382131 chr14:22382118-22382127 chr14:22382116-22382132 chr14:22382117-22382138
32	CTCF	chr14:22392760-22392910	GM12871	blood:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
33	CTCF	chr14:22382060-22382210	SK-N-SH_RA	brain:	n/a	chr14:22382115-22382133 chr14:22382118-22382131 chr14:22382118-22382127 chr14:22382116-22382132 chr14:22382117-22382138
34	CTCF	chr14:22386120-22386270	HRE	kidney:	n/a	chr14:22386199-22386215 chr14:22386198-22386216 chr14:22386200-22386221
35	CTCF	chr14:22386120-22386270	HMF	breast:	n/a	chr14:22386199-22386215 chr14:22386198-22386216 chr14:22386200-22386221
36	CTCF	chr14:22392820-22392970	GM12869	blood:	n/a	chr14:22392890-22392898 chr14:22392883-22392901 chr14:22392878-22392899
37	CTCF	chr14:22386140-22386290	BJ	skin:	n/a	chr14:22386199-22386215 chr14:22386198-22386216 chr14:22386200-22386221
38	CTCF	chr14:22381968-22382260	A549	lung:	n/a	chr14:22382115-22382133 chr14:22382118-22382131 chr14:22382118-22382127 chr14:22382116-22382132 chr14:22382117-22382138
39	CTCF	chr14:22392740-22392890	HepG2	liver:	n/a	n/a
40	CTCF	chr14:22382040-22382190	HMEC	breast:	n/a	chr14:22382115-22382133 chr14:22382118-22382131 chr14:22382118-22382127 chr14:22382116-22382132 chr14:22382117-22382138
41	CTCF	chr14:22386120-22386270	HCPEpiC	choroid plexus:	n/a	chr14:22386199-22386215 chr14:22386198-22386216 chr14:22386200-22386221
42	CTCF	chr14:22381981-22382254	MCF-7	breast:	n/a	chr14:22382115-22382133 chr14:22382118-22382131 chr14:22382118-22382127 chr14:22382116-22382132 chr14:22382117-22382138
43	CTCF	chr14:22386140-22386290	GM12874	blood:	n/a	chr14:22386199-22386215 chr14:22386198-22386216 chr14:22386200-22386221
44	CTCF	chr14:22386140-22386290	HepG2	liver:	n/a	chr14:22386199-22386215 chr14:22386198-22386216 chr14:22386200-22386221
45	CTCF	chr14:22382040-22382190	GM12875	blood:	n/a	chr14:22382115-22382133 chr14:22382118-22382131 chr14:22382118-22382127 chr14:22382116-22382132 chr14:22382117-22382138
46	CTCF	chr14:22382200-22382350	HAc	cerebellar:	n/a	n/a
47	CTCF	chr14:22386085-22386336	ECC-1	luminal epithelium:	n/a	chr14:22386199-22386215 chr14:22386198-22386216 chr14:22386200-22386221
48	CTCF	chr14:22386100-22386250	WI-38	lung:	n/a	chr14:22386199-22386215 chr14:22386198-22386216 chr14:22386200-22386221
49	CTCF	chr14:22386055-22386362	ECC-1	luminal epithelium:	n/a	chr14:22386199-22386215 chr14:22386198-22386216 chr14:22386200-22386221
50	CTCF	chr14:22382060-22382210	HCM	heart:	n/a	chr14:22382115-22382133 chr14:22382118-22382131 chr14:22382118-22382127 chr14:22382116-22382132 chr14:22382117-22382138

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:22392573-22392623	HMEC	breast:	n/a
2	chr14:22385890-22385940	Caco-2	colon:	n/a
3	chr14:22385791-22385841	HCT-116	colon:	n/a
4	chr14:22392573-22392623	AG10803	skin:	n/a
5	chr14:22392573-22392623	RPTEC	kidney:	n/a
6	chr14:22392573-22392623	HEK293	kidney:	embryo
7	chr14:22385890-22385940	SAEC	small airway:	n/a
8	chr14:22385791-22385841	GM06990	blood:	n/a
9	chr14:22392573-22392623	K562	blood:	n/a
10	chr14:22385890-22385940	ECC-1	luminal epithelium:	n/a
11	chr14:22385890-22385940	HMEC	breast:	n/a
12	chr14:22392573-22392623	GM06990	blood:	n/a
13	chr14:22385791-22385841	NHBE	bronchial:	n/a
14	chr14:22385791-22385841	HRE	kidney:	n/a
15	chr14:22385791-22385841	CMK	blood:	n/a
16	chr14:22385791-22385841	T-47D	breast:	n/a
17	chr14:22385890-22385940	HCM	heart:	n/a
18	chr14:22392573-22392623	HRE	kidney:	n/a
19	chr14:22385791-22385841	NH-A	brain:	n/a
20	chr14:22385791-22385841	U87	brain:	n/a
21	chr14:22385791-22385841	IMR90	lung:	fetal
22	chr14:22392573-22392623	AoSMC	blood vessel:	n/a
23	chr14:22385791-22385841	GM12892	blood:	n/a
24	chr14:22385890-22385940	Jurkat	blood:	n/a
25	chr14:22385791-22385841	MCF-7	breast:	n/a
26	chr14:22385791-22385841	PFSK-1	brain:	n/a
27	chr14:22385890-22385940	LNCaP	prostate:	n/a
28	chr14:22385791-22385841	SKMC	muscle:	n/a
29	chr14:22392573-22392623	PANC-1	pancreas:	n/a
30	chr14:22385791-22385841	GM12878	blood:	n/a
31	chr14:22385791-22385841	AoSMC	blood vessel:	n/a
32	chr14:22385890-22385940	PrEC	prostate:	n/a
33	chr14:22385791-22385841	AG04450	lung:	fetal
34	chr14:22392573-22392623	PrEC	prostate:	n/a
35	chr14:22392573-22392623	HCT-116	colon:	n/a
36	chr14:22385890-22385940	HIPEpiC	eye:	n/a
37	chr14:22385890-22385940	HepG2	liver:	n/a
38	chr14:22385791-22385841	A549	lung:	n/a
39	chr14:22385890-22385940	SK-N-SH	brain:	n/a
40	chr14:22385890-22385940	AG04449	skin:	fetal
41	chr14:22392573-22392623	MCF-7	breast:	n/a
42	chr14:22385890-22385940	GM12878	blood:	n/a
43	chr14:22385890-22385940	T-47D	breast:	n/a
44	chr14:22392573-22392623	LNCaP	prostate:	n/a
45	chr14:22392573-22392623	NHBE	bronchial:	n/a
46	chr14:22385791-22385841	SK-N-SH	brain:	n/a
47	chr14:22385791-22385841	Hela-S3	cervix:	n/a
48	chr14:22385791-22385841	HEEpiC	esophagus:	n/a
49	chr14:22385791-22385841	NT2-D1	testis:	n/a
50	chr14:22385890-22385940	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr14:22355742..22356307-chr14:22381815..22382504,2	MCF-7	breast:
2	chr14:22381561..22382521-chr14:22456003..22456911,2	MCF-7	breast:
3	chr14:22381656..22382465-chr5:35444689..35445277,2	MCF-7	breast:
4	chr14:22388102..22388976-chr14:22401807..22402500,2	MCF-7	breast:
5	chr14:22381747..22382682-chr14:22568612..22569505,2	MCF-7	breast:
6	chr14:22384435..22387181-chr14:22391820..22393820,2	MCF-7	breast:
7	chr14:22384435..22387181-chr14:22391820..22393820,2	MCF-7	breast:
8	chr14:22386659..22388626-chr14:22391599..22394453,2	K562	blood:
9	chr14:22381710..22382649-chr14:22401797..22402492,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AE000662.92.1-10	chr14:22386642-22386928	NONHSAT035711
2	lnc-AE000662.92.1-10	chr14:22392607-22392811	NONHSAT035715
3	lnc-AE000662.92.1-10	chr14:22386378-22386481	NONHSAT035711
4	lnc-AE000662.92.1-10	chr14:22386431-22386481	NONHSAT035712
5	lnc-AE000662.92.1-10	chr14:22392628-22392831	NONHSAT035716
6	lnc-AE000662.92.1-10	chr14:22386642-22386919	NONHSAT035712
7	lnc-AE000662.92.1-10	chr14:22386669-22386931	NONHSAT035714
8	lnc-AE000662.92.1-10	chr14:22392658-22392811	NONHSAT035717
9	lnc-AE000662.92.1-10	chr14:22386653-22386919	NONHSAT035713
10	lnc-AE000662.92.1-10	chr14:22392662-22392811	NONHSAT035718

Variant related genes	Relation type
TRAV13-2	TF binding region
TRAV14DV4	TF binding region
TRAV13-2	CpG island
TRAV14DV4	CpG island
ENSG00000211791	chromatin interactions
ENSG00000211792	chromatin interactions
ENSG00000211789	chromatin interactions

Extended variants
information (count: 606 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:606 , 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	rs10133186	chr14:22381424-22381425	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111649016	chr14:22381425-22381426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74035421	chr14:22381472-22381473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186149783	chr14:22381484-22381485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567654754	chr14:22381493-22381494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190275483	chr14:22381494-22381495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564913669	chr14:22381511-22381512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150468615	chr14:22381513-22381514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550845899	chr14:22381548-22381549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561046816	chr14:22381607-22381608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182301534	chr14:22381610-22381611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10145264	chr14:22381617-22381618	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2293727	chr14:22381645-22381646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537861789	chr14:22381664-22381665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10147721	chr14:22381668-22381669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs552265794	chr14:22381696-22381697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10147811	chr14:22381738-22381739	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2293728	chr14:22381754-22381755	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs117467236	chr14:22381850-22381851	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs566312028	chr14:22381865-22381866	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs187358038	chr14:22381879-22381880	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs28482018	chr14:22381939-22381940	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371237207	chr14:22381960-22381961	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs555105468	chr14:22381961-22381962	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs61979693	chr14:22381982-22381983	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs115228760	chr14:22381989-22381990	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545083789	chr14:22382007-22382008	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs544296577	chr14:22382010-22382011	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs28445500	chr14:22382033-22382034	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542950469	chr14:22382048-22382049	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs575283711	chr14:22382071-22382072	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs2293729	chr14:22382074-22382075	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561218786	chr14:22382103-22382104	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs74035422	chr14:22382122-22382123	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs74035423	chr14:22382139-22382140	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548218083	chr14:22382155-22382156	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs560126950	chr14:22382189-22382190	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs532181104	chr14:22382197-22382198	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs74035424	chr14:22382199-22382200	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs569027277	chr14:22382224-22382225	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs531583877	chr14:22382239-22382240	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548321514	chr14:22382247-22382248	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568734572	chr14:22382257-22382258	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs534266231	chr14:22382262-22382263	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs28422899	chr14:22382263-22382264	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs74035425	chr14:22382264-22382265	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540059019	chr14:22382295-22382296	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs117040372	chr14:22382322-22382323	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs190608523	chr14:22382323-22382324	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs527531942	chr14:22382332-22382333	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Autism	22495311	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Barrett''s syndrome	19417022	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22380000-22382200	Enhancers	Primary T cells from cord blood	blood
2	chr14:22380200-22381600	Enhancers	Primary hematopoietic stem cells	blood
3	chr14:22380200-22383200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr14:22380400-22381800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr14:22380400-22382400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:22380400-22382400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:22380400-22386200	Enhancers	HUVEC	blood vessel
8	chr14:22380600-22381800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:22380600-22381800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:22380600-22386600	Weak transcription	Gastric	stomach
11	chr14:22380800-22382000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr14:22380800-22383400	Weak transcription	Primary B cells from cord blood	blood
13	chr14:22381000-22382000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr14:22381000-22382000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:22381200-22382200	Weak transcription	Thymus	Thymus
16	chr14:22381400-22381800	Weak transcription	Fetal Thymus	thymus
17	chr14:22381600-22386200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:22381800-22382600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:22381800-22382800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr14:22381800-22382800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr14:22381800-22384400	Enhancers	Fetal Thymus	thymus
22	chr14:22381800-22386400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:22382000-22382200	Enhancers	Right Atrium	heart
24	chr14:22382000-22382400	Enhancers	Primary B cells from peripheral blood	blood
25	chr14:22382000-22382400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr14:22382000-22382400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr14:22382000-22382600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:22382000-22382600	Enhancers	Dnd41	blood
29	chr14:22382000-22382800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr14:22382000-22382800	Enhancers	Pancreas	Pancrea
31	chr14:22382000-22383200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr14:22382000-22383600	Enhancers	A549	lung
33	chr14:22382000-22384200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr14:22382000-22386600	Enhancers	Stomach Mucosa	stomach
35	chr14:22382200-22382400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:22382200-22382400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:22382200-22382400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr14:22382200-22382400	Enhancers	Liver	Liver
39	chr14:22382200-22382400	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr14:22382200-22382400	Enhancers	Brain Substantia Nigra	brain
41	chr14:22382200-22382400	Flanking Active TSS	Thymus	Thymus
42	chr14:22382200-22382400	Enhancers	HepG2	liver
43	chr14:22382200-22382600	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr14:22382200-22382800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:22382200-22383000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:22382400-22382600	Active TSS	Thymus	Thymus
47	chr14:22382400-22383600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:22382400-22384200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr14:22382400-22386000	Weak transcription	Brain Substantia Nigra	brain
50	chr14:22382400-22386200	Weak transcription	Primary B cells from peripheral blood	blood

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