Variant report

Variant	nsv978720
Chromosome Location	chr18:12395653-12408191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:690)
CpG islands
(count:611)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:12403595-12404200	K562	blood:	n/a	n/a
2	ARID3A	chr18:12396444-12396634	HepG2	liver:	n/a	n/a
3	ATF1	chr18:12403865-12404226	K562	blood:	n/a	n/a
4	ATF2	chr18:12407817-12408146	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr18:12403814-12404222	K562	blood:	n/a	n/a
6	ATF3	chr18:12403971-12404153	K562	blood:	n/a	n/a
7	ATF3	chr18:12396543-12396768	K562	blood:	n/a	n/a
8	BACH1	chr18:12398537-12398540	K562	blood:	n/a	n/a
9	BACH1	chr18:12406938-12407059	K562	blood:	n/a	n/a
10	BACH1	chr18:12407706-12408180	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr18:12403411-12404238	K562	blood:	n/a	n/a
12	BATF	chr18:12403985-12404215	GM12878	blood:	n/a	chr18:12404066-12404077
13	BCLAF1	chr18:12407715-12408165	GM12878	blood:	n/a	n/a
14	BHLHE40	chr18:12406648-12406656	K562	blood:	n/a	n/a
15	BHLHE40	chr18:12407650-12408225	GM12878	blood:	n/a	n/a
16	BHLHE40	chr18:12396507-12396629	K562	blood:	n/a	n/a
17	BHLHE40	chr18:12407605-12408282	K562	blood:	n/a	n/a
18	BHLHE40	chr18:12403749-12404063	K562	blood:	n/a	n/a
19	BHLHE40	chr18:12396492-12396799	HepG2	liver:	n/a	n/a
20	BRCA1	chr18:12407721-12407834	GM12878	blood:	n/a	n/a
21	BRCA1	chr18:12397841-12397882	HepG2	liver:	n/a	n/a
22	BRCA1	chr18:12407745-12407950	Hela-S3	cervix:	n/a	n/a
23	CBX3	chr18:12396297-12396914	HCT-116	colon:	n/a	n/a
24	CBX3	chr18:12407467-12408155	K562	blood:	n/a	n/a
25	CCNT2	chr18:12407605-12408272	K562	blood:	n/a	n/a
26	CCNT2	chr18:12403930-12404205	K562	blood:	n/a	n/a
27	CCNT2	chr18:12396544-12396851	K562	blood:	n/a	n/a
28	CEBPB	chr18:12402839-12403126	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr18:12403369-12403495	HepG2	liver:	n/a	n/a
30	CEBPB	chr18:12403883-12404247	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr18:12396425-12396835	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr18:12403523-12404188	K562	blood:	n/a	n/a
33	CEBPB	chr18:12407693-12407993	Hela-S3	cervix:	n/a	n/a
34	CHD1	chr18:12407497-12409194	IMR90	lung:	n/a	chr18:12408122-12408132 chr18:12408418-12408425
35	CHD1	chr18:12407641-12408158	GM12878	blood:	n/a	chr18:12408122-12408132
36	CHD1	chr18:12407898-12408120	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr18:12407650-12408190	K562	blood:	n/a	chr18:12408122-12408132
38	CHD2	chr18:12407578-12408143	GM12878	blood:	n/a	chr18:12408122-12408132
39	CHD2	chr18:12396430-12396836	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr18:12407581-12408152	Hela-S3	cervix:	n/a	chr18:12408122-12408132
41	CHD2	chr18:12396432-12396598	HepG2	liver:	n/a	n/a
42	CHD2	chr18:12407792-12408175	H1-hESC	embryonic stem cell:	n/a	chr18:12408122-12408132
43	CHD2	chr18:12402826-12403112	Hela-S3	cervix:	n/a	n/a
44	CREB1	chr18:12407659-12408159	A549	lung:	n/a	n/a
45	CREB1	chr18:12407502-12408133	K562	blood:	n/a	n/a
46	CTCF	chr18:12396420-12396570	NHEK	skin:	n/a	n/a
47	CTCF	chr18:12396520-12396670	HEK293	kidney:	n/a	n/a
48	CTCF	chr18:12396200-12396350	MCF-7	breast:	n/a	n/a
49	CTCF	chr18:12396540-12396690	K562	blood:	n/a	n/a
50	CTCF	chr18:12396420-12396570	MCF-7	breast:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12407797-12407847	GM12891	blood:	n/a
2	chr18:12407797-12407847	GM12891	blood:	n/a
3	chr18:12407806-12407856	GM06990	blood:	n/a
4	chr18:12407812-12407862	Jurkat	blood:	n/a
5	chr18:12407806-12407856	HMEC	breast:	n/a
6	chr18:12408045-12408095	ProgFib	skin:	n/a
7	chr18:12407732-12407782	NH-A	brain:	n/a
8	chr18:12407808-12407858	MCF-7	breast:	n/a
9	chr18:12407808-12407858	HAEpiC	amniotic membrane:	n/a
10	chr18:12407732-12407782	T-47D	breast:	n/a
11	chr18:12407806-12407856	SK-N-MC	brain:	n/a
12	chr18:12404041-12404091	HRCEpiC	kidney:	n/a
13	chr18:12407563-12407613	AG09319	gingival:	n/a
14	chr18:12407797-12407847	HIPEpiC	eye:	n/a
15	chr18:12404041-12404091	LNCaP	prostate:	n/a
16	chr18:12404041-12404091	HCM	heart:	n/a
17	chr18:12407563-12407613	GM06990	blood:	n/a
18	chr18:12407563-12407613	SKMC	muscle:	n/a
19	chr18:12404041-12404091	AG09309	skin:	n/a
20	chr18:12407812-12407862	GM06990	blood:	n/a
21	chr18:12407797-12407847	HRCEpiC	kidney:	n/a
22	chr18:12407139-12407189	HAEpiC	amniotic membrane:	n/a
23	chr18:12407563-12407613	NHBE	bronchial:	n/a
24	chr18:12408045-12408095	NHBE	bronchial:	n/a
25	chr18:12408045-12408095	ovcar-3	ovarian:	n/a
26	chr18:12407806-12407856	Hela-S3	cervix:	n/a
27	chr18:12407806-12407856	ECC-1	luminal epithelium:	n/a
28	chr18:12407808-12407858	IMR90	lung:	fetal
29	chr18:12404041-12404091	HNPCEpiC	eye:	n/a
30	chr18:12407808-12407858	Jurkat	blood:	n/a
31	chr18:12407797-12407847	SAEC	small airway:	n/a
32	chr18:12407139-12407189	AG04450	lung:	fetal
33	chr18:12407130-12407180	MCF-7	breast:	n/a
34	chr18:12404041-12404091	BJ	skin:	n/a
35	chr18:12407806-12407856	HNPCEpiC	eye:	n/a
36	chr18:12407797-12407847	GM12878	blood:	n/a
37	chr18:12407812-12407862	LNCaP	prostate:	n/a
38	chr18:12407139-12407189	SK-N-SH_RA	brain:	n/a
39	chr18:12407732-12407782	HRCEpiC	kidney:	n/a
40	chr18:12407130-12407180	HepG2	liver:	n/a
41	chr18:12404041-12404091	ProgFib	skin:	n/a
42	chr18:12407732-12407782	GM12891	blood:	n/a
43	chr18:12404041-12404091	U87	brain:	n/a
44	chr18:12408045-12408095	AG09309	skin:	n/a
45	chr18:12408045-12408095	HPAEpiC	pulmonary alveolar:	n/a
46	chr18:12408045-12408095	AG09319	gingival:	n/a
47	chr18:12407732-12407782	NHDF-neo	bronchial:	n/a
48	chr18:12407806-12407856	AoSMC	blood vessel:	n/a
49	chr18:12407797-12407847	AG04450	lung:	fetal
50	chr18:12407139-12407189	Hepatocyte	liver:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12395095..12397958-chr18:12408142..12409691,2	MCF-7	breast:
2	chr18:12396874..12399343-chr18:12404979..12407652,2	MCF-7	breast:
3	chr18:12404079..12409500-chr18:12655702..12659746,9	K562	blood:
4	chr18:12396554..12398179-chr18:12529767..12532536,2	K562	blood:
5	chr18:12390168..12396137-chr18:12656401..12660531,10	MCF-7	breast:
6	chr18:12400459..12404342-chr18:12406913..12409395,6	MCF-7	breast:
7	chr18:12397803..12400022-chr18:12402423..12404072,2	K562	blood:
8	chr18:12397803..12400022-chr18:12402423..12404072,2	K562	blood:
9	chr18:12405095..12407603-chr18:12698505..12700605,2	K562	blood:
10	chr18:12395766..12397047-chr18:12422358..12424257,19	MCF-7	breast:
11	chr18:12407919..12409639-chr18:12432525..12434212,2	MCF-7	breast:
12	chr18:12400555..12403005-chr18:12419925..12423093,3	MCF-7	breast:
13	chr18:12394534..12398086-chr18:12656747..12659714,3	MCF-7	breast:
14	chr18:12374593..12378692-chr18:12406477..12410976,5	K562	blood:
15	chr18:12377168..12379207-chr18:12397711..12400933,3	K562	blood:
16	chr18:12396027..12396913-chr18:12422599..12423644,3	MCF-7	breast:
17	chr18:12395807..12401661-chr18:12404688..12409428,6	K562	blood:
18	chr18:12400665..12402682-chr18:12406373..12409314,2	MCF-7	breast:
19	chr18:12406749..12409861-chr18:12418820..12421803,8	MCF-7	breast:
20	chr18:12396537..12397287-chr18:12423683..12424400,2	MCF-7	breast:
21	chr18:12395807..12401661-chr18:12404688..12409428,6	K562	blood:
22	chr18:12406559..12410304-chr18:12656888..12659730,4	MCF-7	breast:
23	chr18:12404715..12407367-chr18:12656295..12657862,2	K562	blood:
24	chr18:12407968..12410146-chr3:156930881..156932746,2	MCF-7	breast:
25	chr18:12375261..12378325-chr18:12405563..12409497,4	MCF-7	breast:
26	chr18:12395095..12397958-chr18:12408142..12409691,2	MCF-7	breast:
27	chr18:12395925..12398369-chr18:12399958..12402422,3	MCF-7	breast:
28	chr18:12406252..12409116-chr18:12699672..12701773,2	MCF-7	breast:
29	chr18:12375678..12379143-chr18:12391798..12395970,3	MCF-7	breast:
30	chr18:12375996..12378292-chr18:12406153..12409059,2	MCF-7	breast:
31	chr18:12407594..12413164-chr18:12414407..12422412,12	MCF-7	breast:
32	chr18:12391024..12393985-chr18:12396752..12399571,2	K562	blood:
33	chr18:12392133..12394171-chr18:12397781..12399573,3	K562	blood:
34	chr18:12396874..12399343-chr18:12404979..12407652,2	MCF-7	breast:
35	chr18:12391783..12399361-chr18:12419089..12424121,12	MCF-7	breast:
36	chr11:71823348..71823895-chr18:12407725..12408414,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SLMO1	TF binding region
RNU7-129P	TF binding region
SLMO1	CpG island
RNU7-129P	CpG island
ENSG00000141391	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000251937	chromatin interactions
ENSG00000128789	chromatin interactions
ENSG00000110200	chromatin interactions
ENSG00000215527	chromatin interactions
ENSG00000134278	chromatin interactions
ENSG00000267108	chromatin interactions
ENSG00000101624	chromatin interactions

Extended variants
information (count: 551 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372176934	chr18:12395681-12395682	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs60221427	chr18:12395686-12395687	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs374775165	chr18:12395698-12395699	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs11665192	chr18:12395702-12395703	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs144809694	chr18:12395729-12395730	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs188948642	chr18:12395731-12395732	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs11665201	chr18:12395757-12395758	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs549103388	chr18:12395762-12395763	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs181649649	chr18:12395813-12395814	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs148549914	chr18:12395822-12395823	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs141206503	chr18:12395837-12395838	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs571136686	chr18:12395848-12395849	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs76061205	chr18:12395853-12395854	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs375025924	chr18:12395877-12395878	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs565911866	chr18:12395901-12395902	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs11662125	chr18:12395904-12395905	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs146204961	chr18:12395905-12395906	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs58875261	chr18:12395958-12395959	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537870697	chr18:12396061-12396062	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs78494528	chr18:12396068-12396069	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs577941841	chr18:12396071-12396072	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs545724215	chr18:12396182-12396183	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs566357114	chr18:12396193-12396194	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs186301146	chr18:12396256-12396257	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs533588919	chr18:12396317-12396318	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs572689690	chr18:12396411-12396412	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs543210201	chr18:12396418-12396419	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs573836797	chr18:12396426-12396427	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs560989712	chr18:12396528-12396529	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs552133356	chr18:12396541-12396542	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs12956344	chr18:12396551-12396552	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189474263	chr18:12396590-12396591	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs76807894	chr18:12396612-12396613	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs373059850	chr18:12396625-12396626	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs139111400	chr18:12396660-12396661	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs547671700	chr18:12396700-12396701	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs76961712	chr18:12396762-12396763	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs144007226	chr18:12396766-12396767	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs77888719	chr18:12396774-12396775	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs569491267	chr18:12396790-12396791	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs538368846	chr18:12396827-12396828	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs556372617	chr18:12396828-12396829	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs575384340	chr18:12396860-12396861	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs577973647	chr18:12396932-12396933	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs538617307	chr18:12396975-12396976	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs34441341	chr18:12396980-12396981	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs180850646	chr18:12397015-12397016	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs373827890	chr18:12397022-12397023	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs111944421	chr18:12397028-12397029	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs186250429	chr18:12397051-12397052	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12394400-12395800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:12394600-12396000	Weak transcription	Hela-S3	cervix
3	chr18:12394600-12401600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:12394600-12407000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:12394800-12396000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr18:12394800-12396200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:12394800-12396200	Weak transcription	K562	blood
8	chr18:12394800-12396600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:12394800-12396600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr18:12394800-12396600	Weak transcription	A549	lung
11	chr18:12395000-12396000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr18:12395000-12396400	Weak transcription	Colonic Mucosa	Colon
13	chr18:12395400-12396000	Enhancers	HepG2	liver
14	chr18:12396000-12396200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr18:12396000-12396200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr18:12396000-12396200	Enhancers	Hela-S3	cervix
17	chr18:12396000-12397000	Flanking Active TSS	HepG2	liver
18	chr18:12396200-12396400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr18:12396200-12396400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr18:12396200-12396400	Enhancers	K562	blood
21	chr18:12396200-12396800	Flanking Active TSS	Hela-S3	cervix
22	chr18:12396200-12397000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr18:12396400-12397000	Enhancers	Colonic Mucosa	Colon
24	chr18:12396400-12397000	Flanking Active TSS	K562	blood
25	chr18:12396600-12396800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr18:12396600-12396800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr18:12396600-12397000	Active TSS	A549	lung
28	chr18:12396600-12397600	Enhancers	Placenta	Placenta
29	chr18:12396600-12401800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr18:12396600-12404000	Weak transcription	Right Atrium	heart
31	chr18:12396800-12397000	Active TSS	Hela-S3	cervix
32	chr18:12396800-12402800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr18:12397000-12397200	Enhancers	HepG2	liver
34	chr18:12397000-12397400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:12397000-12399600	Weak transcription	Colonic Mucosa	Colon
36	chr18:12397000-12402200	Weak transcription	K562	blood
37	chr18:12397200-12397600	Flanking Active TSS	HepG2	liver
38	chr18:12397400-12398000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr18:12397600-12398000	Enhancers	HepG2	liver
40	chr18:12397800-12398000	Enhancers	Fetal Heart	heart
41	chr18:12398000-12398200	Bivalent Enhancer	HepG2	liver
42	chr18:12398000-12401800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr18:12398000-12403400	Weak transcription	Fetal Heart	heart
44	chr18:12398400-12398800	Enhancers	Ovary	ovary
45	chr18:12399200-12400400	Bivalent Enhancer	HepG2	liver
46	chr18:12400000-12400400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr18:12400000-12400400	Enhancers	Fetal Muscle Trunk	muscle
48	chr18:12400200-12400400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr18:12401600-12401800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr18:12401600-12402200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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