Variant report

Variant	nsv830159
Chromosome Location	chr1:71772308-71909860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:399)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:32)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:71839584-71839653	K562	blood:	n/a	n/a
2	ATF1	chr1:71778691-71778792	K562	blood:	n/a	n/a
3	BACH1	chr1:71773289-71773496	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr1:71773244-71773527	GM12878	blood:	n/a	chr1:71773395-71773406
5	BRCA1	chr1:71823557-71823623	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr1:71831103-71831451	IMR90	lung:	n/a	n/a
7	CEBPB	chr1:71902907-71903169	IMR90	lung:	n/a	chr1:71903029-71903040
8	CEBPB	chr1:71859079-71859300	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr1:71888601-71888799	HepG2	liver:	n/a	chr1:71888661-71888674 chr1:71888663-71888672 chr1:71888661-71888672
10	CEBPB	chr1:71857313-71857530	H1-hESC	embryonic stem cell:	n/a	chr1:71857386-71857397
11	CEBPB	chr1:71857351-71857492	K562	blood:	n/a	chr1:71857386-71857397
12	CEBPB	chr1:71902874-71903109	HepG2	liver:	n/a	chr1:71903029-71903040
13	CEBPB	chr1:71857220-71857566	IMR90	lung:	n/a	chr1:71857386-71857397
14	CEBPB	chr1:71857247-71857472	HepG2	liver:	n/a	chr1:71857386-71857397
15	CEBPB	chr1:71857297-71857513	A549	lung:	n/a	chr1:71857386-71857397
16	CEBPB	chr1:71817163-71817558	IMR90	lung:	n/a	n/a
17	CHD2	chr1:71823524-71823637	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr1:71809680-71809980	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr1:71809780-71809930	AG10803	skin:	n/a	n/a
20	CTCF	chr1:71809852-71809903	Gliobla	brain:	n/a	n/a
21	CTCF	chr1:71809800-71809950	AG10803	skin:	n/a	n/a
22	CTCF	chr1:71823460-71823610	HRE	kidney:	n/a	n/a
23	CTCF	chr1:71823520-71823670	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr1:71809840-71809990	GM12864	blood:	n/a	n/a
25	CTCF	chr1:71809881-71809892	GM20000	blood:	n/a	n/a
26	CTCF	chr1:71809820-71809970	HCT-116	colon:	n/a	n/a
27	CTCF	chr1:71797620-71797770	GM12878	blood:	n/a	n/a
28	CTCF	chr1:71809780-71809930	HEK293	kidney:	n/a	n/a
29	CTCF	chr1:71823459-71823701	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr1:71823460-71823610	K562	blood:	n/a	n/a
31	CTCF	chr1:71809840-71809990	AG04450	lung:	n/a	n/a
32	CTCF	chr1:71809680-71809970	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr1:71809760-71809910	AG04450	lung:	n/a	n/a
34	CTCF	chr1:71809780-71809930	GM06990	blood:	n/a	n/a
35	CTCF	chr1:71823600-71823750	AG10803	skin:	n/a	n/a
36	CTCF	chr1:71823560-71823710	HEK293	kidney:	n/a	n/a
37	CTCF	chr1:71809780-71809930	GM12867	blood:	n/a	n/a
38	CTCF	chr1:71823480-71823630	HVMF	connective:	n/a	n/a
39	CTCF	chr1:71823049-71823167	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr1:71809840-71809990	K562	blood:	n/a	n/a
41	CTCF	chr1:71809800-71809950	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr1:71809719-71809978	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr1:71809820-71809970	HL-60	blood:	n/a	n/a
44	CTCF	chr1:71823360-71823510	WI-38	lung:	n/a	n/a
45	CTCF	chr1:71809740-71809890	BJ	skin:	n/a	n/a
46	CTCF	chr1:71809780-71809930	GM12868	blood:	n/a	n/a
47	CTCF	chr1:71809760-71809910	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr1:71809820-71809970	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr1:71809822-71809986	IMR90	lung:	n/a	n/a
50	CTCF	chr1:71809800-71809950	GM12871	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:71830814-71830864	A549	lung:	n/a
2	chr1:71904426-71904476	U87	brain:	n/a
3	chr1:71830814-71830864	MCF-7	breast:	n/a
4	chr1:71830814-71830864	SKMC	muscle:	n/a
5	chr1:71830814-71830864	AG09319	gingival:	n/a
6	chr1:71904426-71904476	ProgFib	skin:	n/a
7	chr1:71830814-71830864	K562	blood:	n/a
8	chr1:71904426-71904476	ECC-1	luminal epithelium:	n/a
9	chr1:71830814-71830864	MCF10A-Er-Src	breast:	n/a
10	chr1:71904426-71904476	MCF10A-Er-Src	breast:	n/a
11	chr1:71904426-71904476	SK-N-SH_RA	brain:	n/a
12	chr1:71830814-71830864	HRE	kidney:	n/a
13	chr1:71904426-71904476	HAEpiC	amniotic membrane:	n/a
14	chr1:71904426-71904476	HCM	heart:	n/a
15	chr1:71830814-71830864	RPTEC	kidney:	n/a
16	chr1:71904426-71904476	SK-N-MC	brain:	n/a
17	chr1:71830814-71830864	GM19239	blood:	n/a
18	chr1:71830814-71830864	AG04449	skin:	fetal
19	chr1:71904426-71904476	NHDF-neo	bronchial:	n/a
20	chr1:71830814-71830864	SK-N-SH_RA	brain:	n/a
21	chr1:71904426-71904476	AG04449	skin:	fetal
22	chr1:71904426-71904476	HEK293	kidney:	embryo
23	chr1:71904426-71904476	NHBE	bronchial:	n/a
24	chr1:71904426-71904476	ovcar-3	ovarian:	n/a
25	chr1:71830814-71830864	NHDF-neo	bronchial:	n/a
26	chr1:71830814-71830864	ProgFib	skin:	n/a
27	chr1:71904426-71904476	GM12891	blood:	n/a
28	chr1:71904426-71904476	HL-60	blood:	n/a
29	chr1:71830814-71830864	LNCaP	prostate:	n/a
30	chr1:71830814-71830864	BE2_C	brain:	n/a
31	chr1:71830814-71830864	PrEC	prostate:	n/a
32	chr1:71830814-71830864	NB4	blood:	n/a
33	chr1:71904426-71904476	GM12892	blood:	n/a
34	chr1:71904426-71904476	HCPEpiC	choroid plexus:	n/a
35	chr1:71904426-71904476	PFSK-1	brain:	n/a
36	chr1:71830814-71830864	Hela-S3	cervix:	n/a
37	chr1:71904426-71904476	IMR90	lung:	fetal
38	chr1:71830814-71830864	IMR90	lung:	fetal
39	chr1:71904426-71904476	HRCEpiC	kidney:	n/a
40	chr1:71830814-71830864	T-47D	breast:	n/a
41	chr1:71904426-71904476	NB4	blood:	n/a
42	chr1:71830814-71830864	ovcar-3	ovarian:	n/a
43	chr1:71830814-71830864	HAEpiC	amniotic membrane:	n/a
44	chr1:71830814-71830864	HRCEpiC	kidney:	n/a
45	chr1:71830814-71830864	HCPEpiC	choroid plexus:	n/a
46	chr1:71904426-71904476	AG10803	skin:	n/a
47	chr1:71904426-71904476	HNPCEpiC	eye:	n/a
48	chr1:71904426-71904476	Hepatocyte	liver:	n/a
49	chr1:71904426-71904476	A549	lung:	n/a
50	chr1:71904426-71904476	AG09319	gingival:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:71813943..71816406-chr1:71819082..71821648,2	K562	blood:
2	chr1:71885933..71887641-chr1:71889181..71890999,2	K562	blood:
3	chr1:71813943..71816406-chr1:71819082..71821648,2	K562	blood:
4	chr1:71885933..71887641-chr1:71889181..71890999,2	K562	blood:
5	chr1:71513260..71514174-chr1:71822945..71823752,2	K562	blood:

(count:32 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTH-6	chr1:71873304-71873362	ENSG00000229956.5
2	lnc-CTH-6	chr1:71867405-71867562	ENSG00000229956.5
3	lnc-CTH-6	chr1:71873304-71873341	ENSG00000229956.5
4	lnc-CTH-6	chr1:71873304-71873367	ENSG00000229956.5
5	lnc-CTH-6	chr1:71873316-71873554	ENSG00000229956.5
6	lnc-CTH-6	chr1:71873304-71873407	ENSG00000227126.1
7	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
8	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.5
9	lnc-CTH-6	chr1:71833738-71833771	ENSG00000229956.5
10	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
11	lnc-CTH-6	chr1:71873316-71873554	ENSG00000229956.5
12	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.5
13	lnc-NEGR1-2	chr1:71832737-71832986	NONHSAT003896
14	lnc-CTH-6	chr1:71873327-71873498	ENSG00000229956.5
15	lnc-CTH-6	chr1:71887053-71887155	ENSG00000229956.5
16	lnc-CTH-6	chr1:71873323-71873554	ENSG00000229956.5
17	lnc-CTH-6	chr1:71867530-71867562	ENSG00000227126.1
18	lnc-CTH-6	chr1:71830721-71830882	ENSG00000229956.5
19	lnc-CTH-6	chr1:71868179-71868254	ENSG00000229956.5
20	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.5
21	lnc-CTH-6	chr1:71873327-71873498	ENSG00000229956.5
22	lnc-CTH-6	chr1:71833738-71833771	ENSG00000229956.2
23	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
24	lnc-CTH-6	chr1:71867406-71867562	ENSG00000229956.2
25	lnc-CTH-6	chr1:71873304-71873367	ENSG00000229956.5
26	lnc-CTH-6	chr1:71888187-71888658	ENSG00000229956.5
27	lnc-CTH-6	chr1:71868179-71868254	ENSG00000227126.1
28	lnc-CTH-6	chr1:71874621-71874694	ENSG00000229956.5
29	lnc-CTH-6	chr1:71888187-71888658	ENSG00000229956.5
30	lnc-CTH-6	chr1:71887053-71887155	ENSG00000229956.5
31	lnc-CTH-6	chr1:71874622-71874694	ENSG00000229956.5
32	lnc-CTH-6	chr1:71867782-71868254	ENSG00000229956.5

No data

Variant related genes	Relation type
ENSG00000226324	TF binding region
ZRANB2-AS2	TF binding region
NEGR1	TF binding region
ENSG00000226324	CpG island
ZRANB2-AS2	CpG island
NEGR1	CpG island
ENSG00000050628	chromatin interactions

Extended variants
information (count: 2096 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:2096 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554045399	chr1:71772313-71772314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10749800	chr1:71772352-71772353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs542436759	chr1:71772388-71772389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188715549	chr1:71772396-71772397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138635015	chr1:71772499-71772500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544734193	chr1:71772509-71772510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201734154	chr1:71772522-71772523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35807196	chr1:71772525-71772526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376493980	chr1:71772539-71772540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377400497	chr1:71772569-71772570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533368434	chr1:71772602-71772603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540219540	chr1:71772663-71772664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76753735	chr1:71772680-71772681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72930543	chr1:71772687-71772688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181194912	chr1:71772691-71772692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143028337	chr1:71772719-71772720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74371193	chr1:71772747-71772748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558567024	chr1:71772758-71772759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147455892	chr1:71772763-71772764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551499514	chr1:71772774-71772775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571215069	chr1:71772792-71772793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533798418	chr1:71772802-71772803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138428132	chr1:71772805-71772806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185981690	chr1:71772817-71772818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541538784	chr1:71772821-71772822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188879112	chr1:71772835-71772836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143919041	chr1:71772868-71772869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575882962	chr1:71772897-71772898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544832728	chr1:71772924-71772925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181420083	chr1:71772928-71772929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17091091	chr1:71772943-71772944	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540642070	chr1:71772967-71772968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560497975	chr1:71772980-71772981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529288202	chr1:71772998-71772999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187189545	chr1:71773011-71773012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563171192	chr1:71773112-71773113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531944449	chr1:71773127-71773128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192121532	chr1:71773134-71773135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571341133	chr1:71773176-71773177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114673723	chr1:71773190-71773191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373831468	chr1:71773195-71773196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547454788	chr1:71773196-71773197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377332181	chr1:71773216-71773217	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs201611040	chr1:71773229-71773230	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs17091093	chr1:71773282-71773283	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs114113757	chr1:71773286-71773287	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs75014349	chr1:71773313-71773314	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs182723742	chr1:71773323-71773324	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs148776093	chr1:71773331-71773332	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs78373037	chr1:71773336-71773337	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
Papillary thyroid carcinoma	21436994	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
Breast cancer	17603634	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
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
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71770600-71781200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:71770800-71773000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:71770800-71773000	Weak transcription	HUVEC	blood vessel
4	chr1:71771000-71773200	Weak transcription	Pancreas	Pancrea
5	chr1:71772800-71773600	Enhancers	NHDF-Ad	bronchial
6	chr1:71773000-71773400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:71773000-71773600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:71773000-71773600	Enhancers	Dnd41	blood
9	chr1:71773000-71773600	Enhancers	HUVEC	blood vessel
10	chr1:71773000-71773800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:71773200-71773400	ZNF genes & repeats	Pancreas	Pancrea
12	chr1:71773200-71773600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:71773200-71773600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:71773200-71773600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:71773400-71774800	Weak transcription	Pancreas	Pancrea
16	chr1:71773600-71774600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:71773600-71777000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:71773600-71777000	Weak transcription	NHDF-Ad	bronchial
19	chr1:71773600-71778000	Weak transcription	HUVEC	blood vessel
20	chr1:71773800-71774000	Weak transcription	Dnd41	blood
21	chr1:71773800-71776800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:71774800-71775000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:71776800-71778200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:71777000-71778000	Enhancers	NHDF-Ad	bronchial
25	chr1:71777000-71778200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:71777200-71777600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:71777200-71777600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:71777200-71778000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:71777200-71778400	Enhancers	Liver	Liver
30	chr1:71777200-71778800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:71778000-71778200	Flanking Active TSS	HUVEC	blood vessel
32	chr1:71778000-71778200	Flanking Active TSS	NHDF-Ad	bronchial
33	chr1:71778000-71778800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:71778200-71778600	Active TSS	Dnd41	blood
35	chr1:71778200-71778600	Active TSS	HUVEC	blood vessel
36	chr1:71778200-71778800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:71778200-71778800	Active TSS	NHDF-Ad	bronchial
38	chr1:71778600-71778800	Flanking Active TSS	Dnd41	blood
39	chr1:71778600-71778800	Flanking Active TSS	HUVEC	blood vessel
40	chr1:71778800-71781200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:71790200-71791000	Enhancers	Adipose Nuclei	Adipose
42	chr1:71790600-71791000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:71790600-71791000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:71796400-71797200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:71816400-71817800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:71816400-71817800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:71816600-71817800	Enhancers	NHDF-Ad	bronchial
48	chr1:71816800-71818000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:71817000-71817400	Enhancers	Fetal Brain Male	brain
50	chr1:71817000-71817600	Enhancers	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links