Variant report

Variant	nsv1029656
Chromosome Location	chr7:71745055-71935721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:642)
CpG islands
(count:1467)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:642 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:71909323-71909898	HepG2	liver:	n/a	n/a
2	ATF1	chr7:71891576-71891586	K562	blood:	n/a	n/a
3	ATF1	chr7:71876524-71876741	K562	blood:	n/a	n/a
4	ATF1	chr7:71870432-71870646	K562	blood:	n/a	n/a
5	ATF1	chr7:71748535-71748603	K562	blood:	n/a	n/a
6	ATF2	chr7:71870273-71870756	GM12878	blood:	n/a	n/a
7	ATF3	chr7:71870358-71870662	K562	blood:	n/a	n/a
8	BACH1	chr7:71885255-71885560	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr7:71800945-71801571	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr7:71894186-71894194	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr7:71801868-71802965	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr7:71799942-71799978	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr7:71870402-71870726	GM12878	blood:	n/a	chr7:71870568-71870579 chr7:71870569-71870579
14	BCL3	chr7:71912749-71913168	GM12878	blood:	n/a	n/a
15	BCL3	chr7:71878195-71878815	GM12878	blood:	n/a	n/a
16	BCL3	chr7:71877934-71878609	GM12878	blood:	n/a	n/a
17	BCL3	chr7:71870320-71870747	GM12878	blood:	n/a	chr7:71870567-71870576 chr7:71870568-71870577
18	BCL3	chr7:71878620-71878955	GM12878	blood:	n/a	n/a
19	BHLHE40	chr7:71870452-71870792	GM12878	blood:	n/a	n/a
20	BHLHE40	chr7:71823147-71823309	K562	blood:	n/a	n/a
21	BHLHE40	chr7:71910801-71910875	K562	blood:	n/a	n/a
22	BHLHE40	chr7:71870208-71870784	K562	blood:	n/a	n/a
23	BHLHE40	chr7:71876145-71876250	GM12878	blood:	n/a	n/a
24	BHLHE40	chr7:71887345-71887429	GM12878	blood:	n/a	n/a
25	BHLHE40	chr7:71878774-71878955	K562	blood:	n/a	n/a
26	BRCA1	chr7:71814539-71814706	H1-hESC	embryonic stem cell:	n/a	n/a
27	CBX3	chr7:71872035-71872377	K562	blood:	n/a	n/a
28	CEBPB	chr7:71901855-71902157	K562	blood:	n/a	chr7:71902010-71902021
29	CEBPB	chr7:71868463-71868983	HepG2	liver:	n/a	chr7:71868628-71868639 chr7:71868626-71868639 chr7:71868626-71868637 chr7:71868628-71868637
30	CEBPB	chr7:71868458-71868818	IMR90	lung:	n/a	chr7:71868628-71868639 chr7:71868626-71868639 chr7:71868626-71868637 chr7:71868628-71868637
31	CEBPB	chr7:71901925-71902125	A549	lung:	n/a	chr7:71902010-71902021
32	CEBPB	chr7:71757503-71757552	HepG2	liver:	n/a	n/a
33	CEBPB	chr7:71868465-71869067	K562	blood:	n/a	chr7:71868628-71868639 chr7:71868626-71868639 chr7:71868626-71868637 chr7:71868628-71868637
34	CEBPB	chr7:71868496-71869031	H1-hESC	embryonic stem cell:	n/a	chr7:71868628-71868639 chr7:71868626-71868639 chr7:71868626-71868637 chr7:71868628-71868637
35	CEBPB	chr7:71826906-71827200	HepG2	liver:	n/a	n/a
36	CEBPB	chr7:71868442-71868861	MCF-7	breast:	n/a	chr7:71868628-71868639 chr7:71868626-71868639 chr7:71868626-71868637 chr7:71868628-71868637
37	CEBPB	chr7:71868455-71869071	A549	lung:	n/a	chr7:71868628-71868639 chr7:71868626-71868639 chr7:71868626-71868637 chr7:71868628-71868637
38	CEBPB	chr7:71934667-71934867	HepG2	liver:	n/a	chr7:71934777-71934788
39	CEBPB	chr7:71826938-71827321	K562	blood:	n/a	n/a
40	CEBPB	chr7:71868467-71868959	K562	blood:	n/a	chr7:71868628-71868639 chr7:71868626-71868639 chr7:71868626-71868637 chr7:71868628-71868637
41	CEBPB	chr7:71826949-71827134	A549	lung:	n/a	n/a
42	CEBPB	chr7:71932678-71932855	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr7:71932661-71932946	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr7:71868503-71869087	Hela-S3	cervix:	n/a	chr7:71868628-71868639 chr7:71868626-71868639 chr7:71868626-71868637 chr7:71868628-71868637
45	CEBPB	chr7:71859718-71859750	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr7:71752628-71752861	HepG2	liver:	n/a	n/a
47	CEBPB	chr7:71822855-71823202	K562	blood:	n/a	chr7:71823032-71823043
48	CEBPB	chr7:71822928-71823201	HepG2	liver:	n/a	chr7:71823032-71823043
49	CEBPB	chr7:71901891-71902170	HepG2	liver:	n/a	chr7:71902010-71902021
50	CEBPB	chr7:71828035-71828140	A549	lung:	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	chr7:71913557-71913607	SKMC	muscle:	n/a
2	chr7:71877237-71877287	GM19239	blood:	n/a
3	chr7:71877155-71877205	RPTEC	kidney:	n/a
4	chr7:71913557-71913607	SKMC	muscle:	n/a
5	chr7:71877237-71877287	GM19239	blood:	n/a
6	chr7:71877155-71877205	RPTEC	kidney:	n/a
7	chr7:71803123-71803173	HPAEpiC	pulmonary alveolar:	n/a
8	chr7:71877237-71877287	Jurkat	blood:	n/a
9	chr7:71806067-71806117	GM12892	blood:	n/a
10	chr7:71803123-71803173	NHDF-neo	bronchial:	n/a
11	chr7:71913557-71913607	PANC-1	pancreas:	n/a
12	chr7:71806067-71806117	HRPEpiC	eye:	n/a
13	chr7:71802184-71802234	HEEpiC	esophagus:	n/a
14	chr7:71802574-71802624	HIPEpiC	eye:	n/a
15	chr7:71803433-71803483	CMK	blood:	n/a
16	chr7:71800412-71800462	MCF10A-Er-Src	breast:	n/a
17	chr7:71747632-71747682	RPTEC	kidney:	n/a
18	chr7:71877237-71877287	NHDF-neo	bronchial:	n/a
19	chr7:71800987-71801037	A549	lung:	n/a
20	chr7:71877237-71877287	Caco-2	colon:	n/a
21	chr7:71802574-71802624	GM12891	blood:	n/a
22	chr7:71799177-71799227	MCF-7	breast:	n/a
23	chr7:71799220-71799270	HEK293	kidney:	embryo
24	chr7:71798428-71798478	Caco-2	colon:	n/a
25	chr7:71800412-71800462	AG04450	lung:	fetal
26	chr7:71911541-71911591	NB4	blood:	n/a
27	chr7:71913592-71913642	GM06990	blood:	n/a
28	chr7:71803123-71803173	RPTEC	kidney:	n/a
29	chr7:71747632-71747682	AG04449	skin:	fetal
30	chr7:71911541-71911591	AG04450	lung:	fetal
31	chr7:71798428-71798478	MCF-7	breast:	n/a
32	chr7:71877155-71877205	SAEC	small airway:	n/a
33	chr7:71799982-71800032	NT2-D1	testis:	n/a
34	chr7:71912239-71912289	HCT-116	colon:	n/a
35	chr7:71747632-71747682	ECC-1	luminal epithelium:	n/a
36	chr7:71803123-71803173	ECC-1	luminal epithelium:	n/a
37	chr7:71801793-71801843	SK-N-SH	brain:	n/a
38	chr7:71799982-71800032	HRCEpiC	kidney:	n/a
39	chr7:71799982-71800032	AG04449	skin:	fetal
40	chr7:71801793-71801843	PANC-1	pancreas:	n/a
41	chr7:71803433-71803483	ovcar-3	ovarian:	n/a
42	chr7:71802574-71802624	HepG2	liver:	n/a
43	chr7:71877237-71877287	HPAEpiC	pulmonary alveolar:	n/a
44	chr7:71798428-71798478	Hela-S3	cervix:	n/a
45	chr7:71877520-71877570	GM12878	blood:	n/a
46	chr7:71803433-71803483	Hepatocyte	liver:	n/a
47	chr7:71799220-71799270	HRE	kidney:	n/a
48	chr7:71877113-71877163	PANC-1	pancreas:	n/a
49	chr7:71911541-71911591	NHDF-neo	bronchial:	n/a
50	chr7:71747028-71747078	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:71743468..71744150-chr7:71798805..71799347,2	MCF-7	breast:
2	chr7:71873765..71876173-chr7:71877212..71879799,2	K562	blood:
3	chr7:71752349..71754126-chr7:71756443..71759399,2	K562	blood:
4	chr7:71804343..71806702-chr7:71808239..71810092,2	K562	blood:
5	chr7:71857064..71858979-chr7:71870534..71872385,2	K562	blood:
6	chr7:71851405..71854103-chr7:71858001..71860587,2	MCF-7	breast:
7	chr7:71838948..71841718-chr7:71841980..71845073,3	K562	blood:
8	chr7:71804343..71806702-chr7:71808239..71810092,2	K562	blood:
9	chr7:71390296..71390850-chr7:71798734..71799708,2	K562	blood:
10	chr7:71806092..71808807-chr7:71850228..71852499,2	K562	blood:
11	chr7:71903565..71905477-chr7:71913399..71915319,2	K562	blood:
12	chr7:71835115..71837488-chr7:71840184..71842880,2	K562	blood:
13	chr7:71857064..71858979-chr7:71870534..71872385,2	K562	blood:
14	chr7:71806092..71808807-chr7:71850228..71852499,2	K562	blood:
15	chr7:71810202..71812135-chr7:71814451..71816672,2	K562	blood:
16	chr7:71851405..71854103-chr7:71858001..71860587,2	MCF-7	breast:
17	chr7:71752349..71754126-chr7:71756443..71759399,2	K562	blood:
18	chr7:71876099..71879276-chr7:71880977..71883950,3	K562	blood:
19	chr7:71765415..71767059-chr7:71769100..71770926,2	K562	blood:
20	chr7:71390493..71391255-chr7:71799190..71800147,2	MCF-7	breast:
21	chr7:71628262..71630650-chr7:71934094..71936911,2	K562	blood:
22	chr7:71765415..71767059-chr7:71769100..71770926,2	K562	blood:
23	chr7:71789897..71791400-chr7:71794472..71797210,2	K562	blood:
24	chr7:71789897..71791400-chr7:71794472..71797210,2	K562	blood:
25	chr7:71874673..71877645-chr7:71878281..71881217,3	K562	blood:
26	chr7:71800589..71802149-chr7:71805434..71807505,2	K562	blood:
27	chr7:71838948..71841718-chr7:71841980..71845073,3	K562	blood:
28	chr7:71835115..71837488-chr7:71840184..71842880,2	K562	blood:
29	chr3:149645275..149646111-chr7:71851509..71852107,2	MCF-7	breast:
30	chr7:71810202..71812135-chr7:71814451..71816672,2	K562	blood:
31	chr7:71903565..71905477-chr7:71913399..71915319,2	K562	blood:
32	chr7:71870447..71872769-chr7:71875580..71878575,3	K562	blood:

No data

Variant related genes	Relation type
CALN1	TF binding region
CALN1	CpG island
ENSG00000183166	chromatin interactions

Extended variants
information (count: 6595 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:6595 , 50 per page) page: 1 2 3 4 5 6 7 ... 132

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553987266	chr7:71745069-71745070	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572241700	chr7:71745094-71745095	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536466279	chr7:71745097-71745098	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149502457	chr7:71745104-71745105	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185703847	chr7:71745120-71745121	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188493188	chr7:71745182-71745183	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192905321	chr7:71745185-71745186	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117413430	chr7:71745192-71745193	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184774917	chr7:71745198-71745199	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116601268	chr7:71745204-71745205	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541781973	chr7:71745208-71745209	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558772741	chr7:71745241-71745242	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181383924	chr7:71745255-71745256	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541355646	chr7:71745258-71745259	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373572565	chr7:71745313-71745314	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530189087	chr7:71745342-71745343	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577012858	chr7:71745350-71745351	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140324595	chr7:71745393-71745394	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531072754	chr7:71745442-71745443	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150350213	chr7:71745445-71745446	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570852755	chr7:71745479-71745480	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535038107	chr7:71745500-71745501	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547680848	chr7:71745501-71745502	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565990130	chr7:71745525-71745526	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183701170	chr7:71745596-71745597	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188445064	chr7:71745622-71745623	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200565560	chr7:71745653-71745654	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548750	chr7:71745697-71745698	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs35069269	chr7:71745699-71745700	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs558248923	chr7:71745708-71745709	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576404568	chr7:71745723-71745724	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540630989	chr7:71745731-71745732	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117937141	chr7:71745754-71745755	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369640246	chr7:71745755-71745756	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371371878	chr7:71745795-71745796	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549763	chr7:71745829-71745830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563939270	chr7:71745882-71745883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113630172	chr7:71745918-71745919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182227652	chr7:71745930-71745931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546250651	chr7:71745945-71745946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564586608	chr7:71745971-71745972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528454664	chr7:71745981-71745982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187196252	chr7:71746021-71746022	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs113039383	chr7:71746090-71746091	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs368456291	chr7:71746117-71746118	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs191725754	chr7:71746129-71746130	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs548067803	chr7:71746149-71746150	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs371785282	chr7:71746240-71746241	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs371023042	chr7:71746272-71746273	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs569863452	chr7:71746274-71746275	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21990379	CNVD
Williams Syndrome	16773131	CNVD
Breast cancer	16417655	CNVD
Rheumatoid arthritis	21728841	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Williams Syndrome	16617304	CNVD
Williams Syndrome	20206275	CNVD
Williams Syndrome	16199537	CNVD
Williams Syndrome	18923514	CNVD
Williams Syndrome	20970697	CNVD
Williams-beuren syndrome	20926892	CNVD
Williams-beuren syndrome	21808859	CNVD
periventricular nodular heterotopia	20648244	CNVD
Williams Syndrome	20425783	CNVD
Williams-beuren syndrome	22226172	CNVD
Williams-beuren syndrome	18923513	CNVD
Williams-beuren syndrome	17565757	CNVD
Williams-beuren syndrome	18787571	CNVD
Williams Syndrome	22241247	CNVD
Autism	21686962	CNVD
Autism	20970697	CNVD
Epilepsy	22118685	CNVD
Epilepsy	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21686962	CNVD
Schizophrenia	22118685	CNVD
Williams-beuren syndrome	18337728	CNVD
language delay	21686962	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
Mental retardation	16773131	CNVD
Colorectal cancer	19455253	CNVD
Williams-beuren syndrome	16971481	CNVD
Idiopathic infantile hypercalcaemia	20466674	CNVD
Williams Syndrome	18308711	CNVD
Williams Syndrome	19255058	CNVD
Williams Syndrome	18924169	CNVD
Williams Syndrome	21939500	CNVD
Williams Syndrome	20425784	CNVD
Williams Syndrome	22241097	CNVD
Williams Syndrome	19176822	CNVD
Williams Syndrome	17505701	CNVD
Supravalvular aortic stenosis	19844261	CNVD
Williams Syndrome	16760918	CNVD
Williams-beuren syndrome	18452001	CNVD
Williams-beuren syndrome	19880526	CNVD
Autism	17666889	CNVD
speech delay	17666889	CNVD
Metanephric adenoma	20802469	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:771 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71732600-71760600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:71732800-71758000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:71743000-71745800	Genic enhancers	Thymus	Thymus
4	chr7:71743400-71747400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:71743800-71748200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:71744600-71747400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:71744800-71745400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:71745000-71747200	Enhancers	Fetal Thymus	thymus
9	chr7:71745000-71747400	Enhancers	Dnd41	blood
10	chr7:71745400-71747200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:71745800-71746000	Enhancers	Thymus	Thymus
12	chr7:71746000-71746400	Flanking Active TSS	Thymus	Thymus
13	chr7:71746200-71746400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:71746400-71747600	Enhancers	Thymus	Thymus
15	chr7:71747200-71747400	Weak transcription	Fetal Thymus	thymus
16	chr7:71747200-71747800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:71747400-71747600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr7:71747400-71747800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:71747400-71749000	ZNF genes & repeats	Dnd41	blood
20	chr7:71747400-71750400	ZNF genes & repeats	Fetal Thymus	thymus
21	chr7:71747600-71749800	ZNF genes & repeats	Thymus	Thymus
22	chr7:71747800-71748600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:71748200-71749600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr7:71748400-71748800	Enhancers	K562	blood
25	chr7:71748600-71749600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:71749400-71749600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr7:71749600-71750600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:71749600-71750600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:71749600-71750800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:71749800-71750800	Weak transcription	Thymus	Thymus
31	chr7:71750200-71752400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr7:71750200-71753400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:71750400-71750800	Weak transcription	Fetal Thymus	thymus
34	chr7:71750600-71751400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:71750600-71752400	Enhancers	Primary hematopoietic stem cells	blood
36	chr7:71750800-71751400	Enhancers	Thymus	Thymus
37	chr7:71750800-71752400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:71750800-71753200	Enhancers	Fetal Thymus	thymus
39	chr7:71751200-71752200	Enhancers	Adipose Nuclei	Adipose
40	chr7:71751400-71752000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr7:71751400-71752200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:71751400-71755200	Weak transcription	Thymus	Thymus
43	chr7:71752000-71752400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr7:71752200-71753400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:71752400-71752800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr7:71752400-71753200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:71752400-71755200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:71753200-71753400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr7:71753200-71754200	Weak transcription	Fetal Thymus	thymus
50	chr7:71753400-71754600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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