Variant report

Variant	esv3359320
Chromosome Location	chr1:46997790-47000338
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:243)
CpG islands
(count:305)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:243 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:46998548-46999206	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr1:46999116-46999160	GM12878	blood:	n/a	n/a
3	CCNT2	chr1:46998550-46998983	K562	blood:	n/a	chr1:46998765-46998774 chr1:46998759-46998768
4	CHD2	chr1:46998585-46998664	K562	blood:	n/a	n/a
5	CTCF	chr1:46998533-46998798	GM19240	blood:	n/a	n/a
6	CTCF	chr1:46998440-46998590	HFF-Myc	foreskin:	n/a	n/a
7	CTCF	chr1:46998540-46998690	RPTEC	kidney:	n/a	n/a
8	CTCF	chr1:46998580-46998730	HRPEpiC	eye:	n/a	n/a
9	CTCF	chr1:46998560-46998710	SAEC	small airway:	n/a	n/a
10	CTCF	chr1:46998950-46999101	GM12891	blood:	n/a	n/a
11	CTCF	chr1:46998960-46999110	BJ	skin:	n/a	n/a
12	CTCF	chr1:46998600-46998750	GM12865	blood:	n/a	n/a
13	CTCF	chr1:46998220-46998370	GM12864	blood:	n/a	n/a
14	CTCF	chr1:46998451-46998827	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr1:46998306-46998370	GM12892	blood:	n/a	n/a
16	CTCF	chr1:46998500-46998650	RPTEC	kidney:	n/a	n/a
17	CTCF	chr1:46998480-46998630	NHDF-neo	bronchial:	n/a	n/a
18	CTCF	chr1:46998300-46998450	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr1:46998540-46998690	WI-38	lung:	n/a	n/a
20	CTCF	chr1:46998362-46998403	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr1:46998560-46998710	GM12868	blood:	n/a	n/a
22	CTCF	chr1:46998500-46998650	HEEpiC	esophagus:	n/a	n/a
23	CTCF	chr1:46998580-46998730	AG04449	skin:	n/a	n/a
24	CTCF	chr1:46998555-46998795	GM19239	blood:	n/a	n/a
25	CTCF	chr1:46998559-46998775	HepG2	liver:	n/a	n/a
26	CTCF	chr1:46998620-46998770	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr1:46998542-46998754	HepG2	liver:	n/a	n/a
28	CTCF	chr1:46998358-46998385	GM19240	blood:	n/a	n/a
29	CTCF	chr1:46998549-46998838	A549	lung:	n/a	n/a
30	CTCF	chr1:46998569-46998746	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr1:46998600-46998750	GM12870	blood:	n/a	n/a
32	CTCF	chr1:46998580-46998730	GM12872	blood:	n/a	n/a
33	CTCF	chr1:46998600-46998750	GM12872	blood:	n/a	n/a
34	CTCF	chr1:46999420-46999570	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr1:46998368-46998857	K562	blood:	n/a	n/a
36	CTCF	chr1:46998300-46998450	GM06990	blood:	n/a	n/a
37	CTCF	chr1:46998560-46998710	AG09319	gingival:	n/a	n/a
38	CTCF	chr1:46998580-46998730	HepG2	liver:	n/a	n/a
39	CTCF	chr1:46999080-46999230	GM12868	blood:	n/a	n/a
40	CTCF	chr1:46998538-46998853	A549	lung:	n/a	n/a
41	CTCF	chr1:46998120-46998270	HPF	lung:	n/a	n/a
42	CTCF	chr1:46998539-46998773	GM13977	blood:	n/a	n/a
43	CTCF	chr1:46998560-46998710	HPF	lung:	n/a	n/a
44	CTCF	chr1:46998536-46998814	GM12891	blood:	n/a	n/a
45	CTCF	chr1:46998560-46998710	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr1:46998478-46998851	GM12878	blood:	n/a	n/a
47	CTCF	chr1:46998320-46998470	AG04449	skin:	n/a	n/a
48	CTCF	chr1:46998420-46998710	GM12865	blood:	n/a	n/a
49	CTCF	chr1:46998660-46998810	GM12869	blood:	n/a	n/a
50	CTCF	chr1:46998560-46998710	BJ	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	chr1:46999211-46999261	HEK293	kidney:	embryo
2	chr1:46999348-46999398	HL-60	blood:	n/a
3	chr1:46999211-46999261	GM12878	blood:	n/a
4	chr1:46999348-46999398	HMEC	breast:	n/a
5	chr1:46999211-46999261	T-47D	breast:	n/a
6	chr1:46999248-46999298	H1-hESC	embryonic stem cell:	embryo
7	chr1:46998792-46998842	K562	blood:	n/a
8	chr1:46999248-46999298	T-47D	breast:	n/a
9	chr1:46999211-46999261	HCT-116	colon:	n/a
10	chr1:46998715-46998765	GM12878	blood:	n/a
11	chr1:46999248-46999298	Hela-S3	cervix:	n/a
12	chr1:46998792-46998842	ECC-1	luminal epithelium:	n/a
13	chr1:46998792-46998842	HL-60	blood:	n/a
14	chr1:46999348-46999398	HepG2	liver:	n/a
15	chr1:46998715-46998765	GM19239	blood:	n/a
16	chr1:46998715-46998765	NHBE	bronchial:	n/a
17	chr1:46998792-46998842	HepG2	liver:	n/a
18	chr1:46999248-46999298	K562	blood:	n/a
19	chr1:46999211-46999261	NHDF-neo	bronchial:	n/a
20	chr1:46998715-46998765	MCF10A-Er-Src	breast:	n/a
21	chr1:46999211-46999261	PANC-1	pancreas:	n/a
22	chr1:46999211-46999261	HRPEpiC	eye:	n/a
23	chr1:46998792-46998842	SKMC	muscle:	n/a
24	chr1:46999348-46999398	AG04450	lung:	fetal
25	chr1:46998792-46998842	Hepatocyte	liver:	n/a
26	chr1:46999248-46999298	Hepatocyte	liver:	n/a
27	chr1:46999348-46999398	HIPEpiC	eye:	n/a
28	chr1:46998792-46998842	SK-N-SH_RA	brain:	n/a
29	chr1:46999211-46999261	H1-hESC	embryonic stem cell:	embryo
30	chr1:46999248-46999298	HEEpiC	esophagus:	n/a
31	chr1:46998792-46998842	ProgFib	skin:	n/a
32	chr1:46999211-46999261	A549	lung:	n/a
33	chr1:46999248-46999298	PrEC	prostate:	n/a
34	chr1:46999248-46999298	SK-N-MC	brain:	n/a
35	chr1:46998792-46998842	Jurkat	blood:	n/a
36	chr1:46998792-46998842	HIPEpiC	eye:	n/a
37	chr1:46999248-46999298	GM12892	blood:	n/a
38	chr1:46999348-46999398	AG09309	skin:	n/a
39	chr1:46999211-46999261	BE2_C	brain:	n/a
40	chr1:46999248-46999298	RPTEC	kidney:	n/a
41	chr1:46999348-46999398	CMK	blood:	n/a
42	chr1:46999348-46999398	PrEC	prostate:	n/a
43	chr1:46998715-46998765	HRCEpiC	kidney:	n/a
44	chr1:46999248-46999298	NB4	blood:	n/a
45	chr1:46998715-46998765	HAEpiC	amniotic membrane:	n/a
46	chr1:46998715-46998765	HCPEpiC	choroid plexus:	n/a
47	chr1:46999248-46999298	AG04449	skin:	fetal
48	chr1:46999211-46999261	NH-A	brain:	n/a
49	chr1:46998792-46998842	HCT-116	colon:	n/a
50	chr1:46999348-46999398	Caco-2	colon:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46995357..46997930-chr1:46998172..47001101,2	K562	blood:
2	chr1:46999703..47001765-chr1:47004931..47007448,2	K562	blood:
3	chr1:46998640..46999596-chr1:47011107..47011755,3	K562	blood:
4	chr1:46991343..46993867-chr1:46999372..47001574,2	K562	blood:
5	chr1:46912286..46913258-chr1:47000199..47001465,3	K562	blood:
6	chr1:46992924..46995124-chr1:46996235..46998707,2	K562	blood:
7	chr1:46912494..46913218-chr1:47000111..47001290,4	MCF-7	breast:
8	chr1:46957792..46960290-chr1:46997960..47000154,2	K562	blood:
9	chr1:46995357..46997930-chr1:46998172..47001101,2	K562	blood:
10	chr1:46999087..47000869-chr1:47002211..47004388,2	K562	blood:
11	chr1:46985914..46991197-chr1:46993744..46997835,5	K562	blood:
12	chr1:46907829..46908706-chr1:46998510..46999437,3	K562	blood:
13	chr1:46993019..46995124-chr1:46997207..47000193,2	K562	blood:

No data

Variant related genes	Relation type
MKNK1-AS1	TF binding region
MKNK1-AS1	CpG island
ENSG00000269956	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549718403	chr1:46997815-46997816	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561745218	chr1:46997847-46997848	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529290959	chr1:46997851-46997852	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141925378	chr1:46997902-46997903	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368374719	chr1:46997939-46997940	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533544664	chr1:46997968-46997969	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551701155	chr1:46997983-46997984	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570518326	chr1:46997990-46997991	Bivalent/Poised TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7542296	chr1:46998009-46998010	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs190811818	chr1:46998026-46998027	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574782196	chr1:46998046-46998047	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs33998070	chr1:46998085-46998086	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs147304160	chr1:46998220-46998221	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs554010929	chr1:46998228-46998229	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs369740954	chr1:46998250-46998251	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs375893616	chr1:46998260-46998261	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs558336568	chr1:46998283-46998284	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs576602511	chr1:46998286-46998287	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs61011128	chr1:46998318-46998319	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140972866	chr1:46998428-46998429	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12090095	chr1:46998481-46998482	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57552288	chr1:46998566-46998567	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs377607641	chr1:46998600-46998601	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575880998	chr1:46998601-46998602	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546020419	chr1:46998686-46998687	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561883236	chr1:46998753-46998754	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540535002	chr1:46998804-46998805	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112272102	chr1:46998821-46998822	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529268189	chr1:46998873-46998874	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535538704	chr1:46998881-46998882	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541091244	chr1:46998891-46998892	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12730970	chr1:46998929-46998930	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12735063	chr1:46998975-46998976	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559965391	chr1:46998988-46998989	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72894667	chr1:46999020-46999021	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551901913	chr1:46999044-46999045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570258059	chr1:46999101-46999102	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531167726	chr1:46999120-46999121	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549885893	chr1:46999148-46999149	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568188593	chr1:46999154-46999155	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535401639	chr1:46999172-46999173	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs560861087	chr1:46999194-46999195	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs386630900	chr1:46999238-46999239	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs114746843	chr1:46999239-46999240	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577154798	chr1:46999250-46999251	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557671687	chr1:46999258-46999259	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575817492	chr1:46999307-46999308	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543242667	chr1:46999319-46999320	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs377620498	chr1:46999360-46999361	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555415519	chr1:46999398-46999399	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46988800-46998600	Weak transcription	Right Ventricle	heart
2	chr1:46989000-46999000	Weak transcription	Gastric	stomach
3	chr1:46989200-46998600	Weak transcription	Right Atrium	heart
4	chr1:46993800-46998400	Weak transcription	A549	lung
5	chr1:46994200-47000800	Weak transcription	K562	blood
6	chr1:46994400-46998800	Weak transcription	Pancreas	Pancrea
7	chr1:46997400-46998400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr1:46997600-46997800	Active TSS	Spleen	Spleen
9	chr1:46997800-46998000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:46997800-46998000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:46997800-46998200	Weak transcription	Spleen	Spleen
12	chr1:46997800-46998600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:46998000-46998600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:46998000-46999000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:46998000-46999800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:46998200-46998400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:46998200-46998400	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr1:46998200-46998400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
19	chr1:46998200-46998400	Enhancers	Fetal Brain Female	brain
20	chr1:46998200-46998400	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr1:46998200-46998400	Bivalent Enhancer	Stomach Mucosa	stomach
22	chr1:46998200-46998600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:46998200-46998600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr1:46998200-46998600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr1:46998200-46998600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:46998200-46998600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr1:46998200-46998600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:46998200-46998600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
29	chr1:46998200-46998600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:46998200-46998600	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:46998200-46998600	Bivalent Enhancer	Fetal Intestine Small	intestine
32	chr1:46998200-46998600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr1:46998200-46998600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr1:46998200-46998600	Bivalent Enhancer	GM12878-XiMat	blood
35	chr1:46998200-46998800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:46998200-46999000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr1:46998200-46999000	Bivalent/Poised TSS	Colonic Mucosa	Colon
38	chr1:46998200-46999000	Active TSS	Stomach Smooth Muscle	stomach
39	chr1:46998200-46999200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr1:46998200-46999200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr1:46998200-46999200	Enhancers	Spleen	Spleen
42	chr1:46998400-46998600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:46998400-46998600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr1:46998400-46998600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr1:46998400-46998600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
46	chr1:46998400-46998600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:46998400-46998600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr1:46998400-46998600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
49	chr1:46998400-46998600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
50	chr1:46998400-46998600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood

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