Variant report

Variant	esv2756642
Chromosome Location	chr17:16571504-16734163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1087)
CpG islands
(count:1467)
Chromatin interactive
region (count:3)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1087 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:16587344-16587522	HepG2	liver:	n/a	n/a
2	ATF3	chr17:16593180-16593594	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr17:16719341-16719384	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr17:16719169-16719457	K562	blood:	n/a	n/a
5	BATF	chr17:16710949-16711369	GM12878	blood:	n/a	chr17:16711188-16711198 chr17:16711187-16711198
6	BATF	chr17:16617753-16618210	GM12878	blood:	n/a	n/a
7	BATF	chr17:16617967-16618171	GM12878	blood:	n/a	n/a
8	BATF	chr17:16593196-16593604	GM12878	blood:	n/a	n/a
9	BATF	chr17:16625165-16625430	GM12878	blood:	n/a	n/a
10	BATF	chr17:16711019-16711268	GM12878	blood:	n/a	chr17:16711188-16711198 chr17:16711187-16711198
11	BATF	chr17:16638089-16638468	GM12878	blood:	n/a	n/a
12	BATF	chr17:16638159-16638457	GM12878	blood:	n/a	n/a
13	BATF	chr17:16648342-16648531	GM12878	blood:	n/a	n/a
14	BATF	chr17:16612551-16612747	GM12878	blood:	n/a	n/a
15	BCL11A	chr17:16638200-16638440	GM12878	blood:	n/a	n/a
16	BCL11A	chr17:16593146-16593673	GM12878	blood:	n/a	n/a
17	BCL11A	chr17:16617949-16618181	GM12878	blood:	n/a	n/a
18	BCL11A	chr17:16593243-16593502	GM12878	blood:	n/a	n/a
19	BCL3	chr17:16589377-16589634	GM12878	blood:	n/a	n/a
20	BCL3	chr17:16589373-16589592	GM12878	blood:	n/a	n/a
21	BHLHE40	chr17:16655478-16655512	K562	blood:	n/a	n/a
22	CBX3	chr17:16593160-16593610	K562	blood:	n/a	n/a
23	CEBPB	chr17:16575107-16575185	K562	blood:	n/a	chr17:16575111-16575124 chr17:16575113-16575124 chr17:16575111-16575122
24	CEBPB	chr17:16586409-16586499	IMR90	lung:	n/a	n/a
25	CEBPB	chr17:16663012-16663205	IMR90	lung:	n/a	chr17:16663087-16663100 chr17:16663087-16663100 chr17:16663087-16663098 chr17:16663087-16663100 chr17:16663089-16663098
26	CEBPB	chr17:16663026-16663220	A549	lung:	n/a	chr17:16663087-16663100 chr17:16663087-16663100 chr17:16663087-16663098 chr17:16663087-16663100 chr17:16663089-16663098
27	CEBPB	chr17:16613014-16613307	K562	blood:	n/a	n/a
28	CEBPB	chr17:16575013-16575369	IMR90	lung:	n/a	chr17:16575111-16575124 chr17:16575113-16575124 chr17:16575111-16575122
29	CEBPB	chr17:16613038-16613211	K562	blood:	n/a	n/a
30	CEBPB	chr17:16574983-16575294	HepG2	liver:	n/a	chr17:16575111-16575124 chr17:16575113-16575124 chr17:16575111-16575122
31	CEBPB	chr17:16676545-16676704	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr17:16586370-16586376	A549	lung:	n/a	n/a
33	CEBPB	chr17:16663042-16663112	K562	blood:	n/a	chr17:16663087-16663100 chr17:16663087-16663100 chr17:16663087-16663098 chr17:16663087-16663100 chr17:16663089-16663098
34	CEBPB	chr17:16575057-16575363	A549	lung:	n/a	chr17:16575111-16575124 chr17:16575113-16575124 chr17:16575111-16575122
35	CEBPB	chr17:16582085-16582107	K562	blood:	n/a	n/a
36	CEBPB	chr17:16581042-16581078	A549	lung:	n/a	n/a
37	CEBPB	chr17:16612522-16612646	K562	blood:	n/a	n/a
38	CHD2	chr17:16586756-16586911	HepG2	liver:	n/a	n/a
39	CHD2	chr17:16586678-16586885	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr17:16593406-16593641	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr17:16592948-16593358	HCT-116	colon:	n/a	n/a
42	CTCF	chr17:16593128-16593635	A549	lung:	n/a	n/a
43	CTCF	chr17:16593420-16593570	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr17:16593250-16593546	LNCaP	prostate:	n/a	n/a
45	CTCF	chr17:16593120-16593270	GM12869	blood:	n/a	n/a
46	CTCF	chr17:16719216-16719498	NHEK	skin:	n/a	n/a
47	CTCF	chr17:16593120-16593270	HCM	heart:	n/a	n/a
48	CTCF	chr17:16733660-16733810	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr17:16733645-16733834	GM12891	blood:	n/a	n/a
50	CTCF	chr17:16593440-16593590	HCPEpiC	choroid plexus:	n/a	n/a

(count:1467 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16593063-16593113	GM12892	blood:	n/a
2	chr17:16586857-16586907	AG04449	skin:	fetal
3	chr17:16597563-16597613	K562	blood:	n/a
4	chr17:16593063-16593113	GM12892	blood:	n/a
5	chr17:16586857-16586907	AG04449	skin:	fetal
6	chr17:16597563-16597613	K562	blood:	n/a
7	chr17:16610132-16610182	HAEpiC	amniotic membrane:	n/a
8	chr17:16597563-16597613	AG10803	skin:	n/a
9	chr17:16597563-16597613	BE2_C	brain:	n/a
10	chr17:16688816-16688866	MCF-7	breast:	n/a
11	chr17:16594459-16594509	LNCaP	prostate:	n/a
12	chr17:16593426-16593476	U87	brain:	n/a
13	chr17:16593613-16593663	SK-N-SH	brain:	n/a
14	chr17:16592532-16592582	HepG2	liver:	n/a
15	chr17:16593613-16593663	HAEpiC	amniotic membrane:	n/a
16	chr17:16587128-16587178	HNPCEpiC	eye:	n/a
17	chr17:16693633-16693683	Hela-S3	cervix:	n/a
18	chr17:16690169-16690219	T-47D	breast:	n/a
19	chr17:16592532-16592582	HCF	heart:	n/a
20	chr17:16688816-16688866	SK-N-MC	brain:	n/a
21	chr17:16592532-16592582	LNCaP	prostate:	n/a
22	chr17:16688816-16688866	IMR90	lung:	fetal
23	chr17:16586857-16586907	HPAEpiC	pulmonary alveolar:	n/a
24	chr17:16597563-16597613	GM06990	blood:	n/a
25	chr17:16610318-16610368	BE2_C	brain:	n/a
26	chr17:16593426-16593476	HepG2	liver:	n/a
27	chr17:16593081-16593131	Jurkat	blood:	n/a
28	chr17:16593426-16593476	PrEC	prostate:	n/a
29	chr17:16693633-16693683	SAEC	small airway:	n/a
30	chr17:16688816-16688866	HAEpiC	amniotic membrane:	n/a
31	chr17:16693633-16693683	PrEC	prostate:	n/a
32	chr17:16590232-16590282	ProgFib	skin:	n/a
33	chr17:16594459-16594509	HRE	kidney:	n/a
34	chr17:16594459-16594509	HMEC	breast:	n/a
35	chr17:16593582-16593632	SAEC	small airway:	n/a
36	chr17:16593063-16593113	ECC-1	luminal epithelium:	n/a
37	chr17:16587128-16587178	HEEpiC	esophagus:	n/a
38	chr17:16593589-16593639	Jurkat	blood:	n/a
39	chr17:16597563-16597613	MCF-7	breast:	n/a
40	chr17:16597563-16597613	LNCaP	prostate:	n/a
41	chr17:16593613-16593663	MCF-7	breast:	n/a
42	chr17:16594459-16594509	HAEpiC	amniotic membrane:	n/a
43	chr17:16649246-16649296	RPTEC	kidney:	n/a
44	chr17:16593582-16593632	A549	lung:	n/a
45	chr17:16693633-16693683	MCF10A-Er-Src	breast:	n/a
46	chr17:16649246-16649296	HPAEpiC	pulmonary alveolar:	n/a
47	chr17:16587128-16587178	HepG2	liver:	n/a
48	chr17:16690169-16690219	MCF10A-Er-Src	breast:	n/a
49	chr17:16593094-16593144	NH-A	brain:	n/a
50	chr17:16690169-16690219	Caco-2	colon:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16721818..16722353-chr17:16776583..16777108,2	MCF-7	breast:
2	chr17:16556416..16558406-chr17:16573087..16576319,3	MCF-7	breast:
3	chr17:16555586..16557208-chr17:16578234..16580011,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC104024.2.1-4	chr17:16623831-16623972	NONHSAT145996
2	lnc-CCDC144A-1	chr17:16707941-16707992	ENSG00000264729.1
3	lnc-AC104024.2.1-3	chr17:16692057-16693815	NONHSAT146006
4	lnc-TRPV2-7	chr17:16613373-16613673	NONHSAT145995
5	lnc-KRT17P1-1	chr17:16691922-16692548	ENSG00000264673.1
6	lnc-CCDC144A-1	chr17:16708772-16709021	ENSG00000264729.1
7	lnc-AC104024.2.1-3	chr17:16692215-16692721	NONHSAT146007
8	lnc-AC104024.2.1-4	chr17:16630841-16631209	NONHSAT145996
9	lnc-AC104024.2.1-4	chr17:16630374-16630453	NONHSAT145996
10	lnc-TRPV2-6	chr17:16608598-16608713	NONHSAT145994
11	lnc-TRPV2-6	chr17:16612110-16612773	NONHSAT145994
12	lnc-KRT17P1-1	chr17:16691562-16691620	ENSG00000264673.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	LOC162632	hsa-miR-26b-5p	chr17:16707023-16707045
2	CCDC144A	hsa-miR-26b-5p	chr17:16677653-16677674

Variant related genes	Relation type
ENSG00000226145	TF binding region
UPF3AP1	TF binding region
RN7SL620P	TF binding region
NEK4P2	TF binding region
FAM106CP	TF binding region
ENSG00000264673	TF binding region
ENSG00000266302	TF binding region
CCDC144A	TF binding region
USP32P1	TF binding region
RNU6-405P	TF binding region
ENSG00000272815	TF binding region
RNASEH1P2	TF binding region
SRP68P1	TF binding region
ENSG00000264892	TF binding region
ENSG00000264729	TF binding region
ENSG00000226145	CpG island
UPF3AP1	CpG island
RN7SL620P	CpG island
NEK4P2	CpG island
FAM106CP	CpG island
ENSG00000264673	CpG island
ENSG00000266302	CpG island
CCDC144A	CpG island
USP32P1	CpG island
RNU6-405P	CpG island
ENSG00000272815	CpG island
RNASEH1P2	CpG island
SRP68P1	CpG island
ENSG00000264892	CpG island
ENSG00000264729	CpG island
ENSG00000197566	chromatin interactions
ENSG00000264765	chromatin interactions

Extended variants
information (count: 3033 )
Associated
traits (count: 160 )

Variant overlapped rSNPs/rCNVs (count:3033 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8075374	chr17:16571504-16571505	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs28398264	chr17:16571542-16571543	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs9916464	chr17:16571555-16571556	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184524737	chr17:16571574-16571575	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs189355246	chr17:16571586-16571587	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs527570243	chr17:16571594-16571595	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs567882417	chr17:16571671-16571672	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs560487098	chr17:16571683-16571684	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs535291316	chr17:16571684-16571685	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs74851024	chr17:16571685-16571686	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs537622159	chr17:16571699-16571700	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192835085	chr17:16571701-16571702	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556794522	chr17:16571724-16571725	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs531773395	chr17:16571745-16571746	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs551942928	chr17:16571776-16571777	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs571795537	chr17:16571777-16571778	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs185368191	chr17:16571791-16571792	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs28668934	chr17:16571800-16571801	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566888023	chr17:16571807-16571808	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs28555414	chr17:16571826-16571827	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs140566820	chr17:16571830-16571831	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs190102268	chr17:16571833-16571834	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs181239727	chr17:16571877-16571878	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs186514963	chr17:16571890-16571891	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs188277794	chr17:16571905-16571906	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs541289267	chr17:16571932-16571933	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs180899697	chr17:16572016-16572017	Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs186309704	chr17:16572074-16572075	Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs191106557	chr17:16572097-16572098	Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs574828929	chr17:16572104-16572105	Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs72835924	chr17:16572120-16572121	Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531829482	chr17:16572147-16572148	Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs181621321	chr17:16572262-16572263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565460294	chr17:16572285-16572286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386795870	chr17:16572323-16572324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527895177	chr17:16572366-16572367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547655512	chr17:16572388-16572389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144094670	chr17:16572419-16572420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560478389	chr17:16572459-16572460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577633630	chr17:16572497-16572498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111662724	chr17:16572532-16572533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186889449	chr17:16572561-16572562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10438732	chr17:16572573-16572574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs375002287	chr17:16572629-16572630	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs569595145	chr17:16572668-16572669	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs146708287	chr17:16572701-16572702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546484799	chr17:16572727-16572728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563024388	chr17:16572750-16572751	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs558387453	chr17:16572764-16572765	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs572180514	chr17:16572837-16572838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:160)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	18160780	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16570000-16572200	Active TSS	A549	lung
2	chr17:16571000-16579600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:16571400-16571600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr17:16571400-16571600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
5	chr17:16571400-16571600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
6	chr17:16572000-16572200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:16579400-16580600	Enhancers	Fetal Stomach	stomach
8	chr17:16579600-16581000	Enhancers	Fetal Muscle Leg	muscle
9	chr17:16581000-16581800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr17:16581200-16581800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr17:16581400-16581800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr17:16581800-16589600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr17:16581800-16589800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr17:16583800-16584000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:16584000-16586800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:16585000-16586600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:16586400-16586600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr17:16586400-16587000	Weak transcription	Right Atrium	heart
19	chr17:16586400-16587000	Bivalent Enhancer	HepG2	liver
20	chr17:16586600-16586800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:16586600-16586800	Bivalent Enhancer	Fetal Brain Male	brain
22	chr17:16586600-16586800	Active TSS	Right Ventricle	heart
23	chr17:16586600-16586800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr17:16586600-16587000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr17:16586600-16587000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr17:16586600-16587000	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
27	chr17:16586600-16587000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:16586600-16587000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr17:16586600-16587000	Active TSS	Colon Smooth Muscle	Colon
30	chr17:16586600-16587000	Active TSS	Psoas Muscle	Psoas
31	chr17:16586600-16587000	Active TSS	HSMM	muscle
32	chr17:16586600-16587200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:16586600-16587200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr17:16586600-16587200	Active TSS	Brain Hippocampus Middle	brain
35	chr17:16586600-16587200	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr17:16586600-16587200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr17:16586600-16587400	Active TSS	Brain Substantia Nigra	brain
38	chr17:16586600-16587400	Bivalent/Poised TSS	Fetal Brain Female	brain
39	chr17:16586800-16587000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr17:16586800-16587000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:16586800-16587000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:16586800-16587000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr17:16586800-16587000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr17:16586800-16587000	Flanking Active TSS	Right Ventricle	heart
45	chr17:16586800-16587000	Bivalent/Poised TSS	NH-A	brain
46	chr17:16586800-16587200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:16586800-16587200	Bivalent Enhancer	Adipose Nuclei	Adipose
48	chr17:16586800-16587200	Active TSS	Brain Angular Gyrus	brain
49	chr17:16586800-16587200	Bivalent Enhancer	Left Ventricle	heart
50	chr17:16586800-16587400	Enhancers	Pancreas	Pancrea

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