Variant report

Variant	nsv464662
Chromosome Location	chr7:101912320-101949128
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2141)
CpG islands
(count:1954)
Chromatin interactive
region (count:107)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:2141 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:101915652-101915809	K562	blood:	n/a	n/a
2	ARID3A	chr7:101915514-101915780	HepG2	liver:	n/a	n/a
3	ATF2	chr7:101948664-101949292	GM12878	blood:	n/a	n/a
4	ATF2	chr7:101934447-101935309	GM12878	blood:	n/a	n/a
5	ATF2	chr7:101915426-101915730	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr7:101932966-101933741	GM12878	blood:	n/a	n/a
7	ATF2	chr7:101932194-101932667	GM12878	blood:	n/a	n/a
8	ATF2	chr7:101927669-101928058	GM12878	blood:	n/a	n/a
9	ATF2	chr7:101948683-101949432	GM12878	blood:	n/a	n/a
10	ATF2	chr7:101934617-101935095	GM12878	blood:	n/a	n/a
11	ATF2	chr7:101933023-101933334	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr7:101927721-101928042	GM12878	blood:	n/a	n/a
13	ATF3	chr7:101917041-101917468	K562	blood:	n/a	n/a
14	ATF3	chr7:101916932-101917536	HepG2	liver:	n/a	n/a
15	ATF3	chr7:101917051-101917430	HepG2	liver:	n/a	n/a
16	ATF3	chr7:101917061-101917458	K562	blood:	n/a	n/a
17	BACH1	chr7:101929768-101929916	K562	blood:	n/a	n/a
18	BACH1	chr7:101922731-101923023	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr7:101944097-101944551	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr7:101929546-101929960	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr7:101935061-101935073	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr7:101933088-101933320	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr7:101930205-101930668	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr7:101927734-101927953	GM12878	blood:	n/a	n/a
25	BATF	chr7:101941360-101941695	GM12878	blood:	n/a	n/a
26	BATF	chr7:101934842-101935198	GM12878	blood:	n/a	n/a
27	BCL11A	chr7:101934677-101935276	GM12878	blood:	n/a	chr7:101934935-101934944
28	BCL3	chr7:101948805-101949270	GM12878	blood:	n/a	n/a
29	BCL3	chr7:101915349-101916033	A549	lung:	n/a	n/a
30	BCL3	chr7:101916843-101917445	A549	lung:	n/a	n/a
31	BCL3	chr7:101934706-101935237	GM12878	blood:	n/a	chr7:101934935-101934944
32	BCLAF1	chr7:101934439-101935371	GM12878	blood:	n/a	chr7:101934935-101934944
33	BCLAF1	chr7:101932078-101932752	GM12878	blood:	n/a	chr7:101932316-101932325
34	BCLAF1	chr7:101948650-101949487	GM12878	blood:	n/a	n/a
35	BCLAF1	chr7:101934466-101935271	GM12878	blood:	n/a	chr7:101934935-101934944
36	BCLAF1	chr7:101948752-101949457	GM12878	blood:	n/a	n/a
37	BHLHE40	chr7:101930201-101930310	K562	blood:	n/a	n/a
38	BHLHE40	chr7:101929495-101929593	GM12878	blood:	n/a	n/a
39	BHLHE40	chr7:101922753-101923087	GM12878	blood:	n/a	chr7:101923056-101923072 chr7:101923050-101923066
40	BHLHE40	chr7:101927982-101928018	K562	blood:	n/a	n/a
41	BHLHE40	chr7:101915514-101915813	GM12878	blood:	n/a	n/a
42	BHLHE40	chr7:101930107-101930614	GM12878	blood:	n/a	chr7:101930365-101930381
43	BHLHE40	chr7:101934687-101935239	GM12878	blood:	n/a	n/a
44	BHLHE40	chr7:101917027-101917539	K562	blood:	n/a	n/a
45	BHLHE40	chr7:101916969-101917623	HepG2	liver:	n/a	n/a
46	BHLHE40	chr7:101915482-101915837	K562	blood:	n/a	n/a
47	BHLHE40	chr7:101927712-101928121	GM12878	blood:	n/a	n/a
48	BHLHE40	chr7:101922115-101922233	GM12878	blood:	n/a	n/a
49	BHLHE40	chr7:101922853-101923135	K562	blood:	n/a	chr7:101923056-101923072 chr7:101923050-101923066
50	BHLHE40	chr7:101948685-101949311	GM12878	blood:	n/a	n/a

(count:1954 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101942851-101942901	BE2_C	brain:	n/a
2	chr7:101944556-101944606	HL-60	blood:	n/a
3	chr7:101942851-101942901	BE2_C	brain:	n/a
4	chr7:101944556-101944606	HL-60	blood:	n/a
5	chr7:101944556-101944606	SK-N-SH_RA	brain:	n/a
6	chr7:101927973-101928023	Hela-S3	cervix:	n/a
7	chr7:101926568-101926618	GM06990	blood:	n/a
8	chr7:101947698-101947748	HCT-116	colon:	n/a
9	chr7:101943990-101944040	SK-N-MC	brain:	n/a
10	chr7:101922985-101923035	AG09319	gingival:	n/a
11	chr7:101936318-101936368	PFSK-1	brain:	n/a
12	chr7:101944275-101944325	ovcar-3	ovarian:	n/a
13	chr7:101944275-101944325	HMEC	breast:	n/a
14	chr7:101943990-101944040	HL-60	blood:	n/a
15	chr7:101940485-101940535	HepG2	liver:	n/a
16	chr7:101930366-101930416	HRE	kidney:	n/a
17	chr7:101930366-101930416	PrEC	prostate:	n/a
18	chr7:101936318-101936368	Caco-2	colon:	n/a
19	chr7:101932902-101932952	NHDF-neo	bronchial:	n/a
20	chr7:101930366-101930416	IMR90	lung:	fetal
21	chr7:101945324-101945374	PANC-1	pancreas:	n/a
22	chr7:101940485-101940535	SK-N-SH	brain:	n/a
23	chr7:101926568-101926618	T-47D	breast:	n/a
24	chr7:101927846-101927896	ovcar-3	ovarian:	n/a
25	chr7:101932902-101932952	HRE	kidney:	n/a
26	chr7:101938115-101938165	GM12891	blood:	n/a
27	chr7:101922985-101923035	HNPCEpiC	eye:	n/a
28	chr7:101944430-101944480	HL-60	blood:	n/a
29	chr7:101943788-101943838	PFSK-1	brain:	n/a
30	chr7:101943005-101943055	GM12878	blood:	n/a
31	chr7:101927904-101927954	NHBE	bronchial:	n/a
32	chr7:101927904-101927954	HCF	heart:	n/a
33	chr7:101936527-101936577	BE2_C	brain:	n/a
34	chr7:101915942-101915992	PFSK-1	brain:	n/a
35	chr7:101938115-101938165	K562	blood:	n/a
36	chr7:101930366-101930416	AG04450	lung:	fetal
37	chr7:101930855-101930905	HepG2	liver:	n/a
38	chr7:101927846-101927896	NHDF-neo	bronchial:	n/a
39	chr7:101934892-101934942	CMK	blood:	n/a
40	chr7:101943990-101944040	A549	lung:	n/a
41	chr7:101931088-101931138	BE2_C	brain:	n/a
42	chr7:101940485-101940535	Hela-S3	cervix:	n/a
43	chr7:101931734-101931784	SK-N-SH	brain:	n/a
44	chr7:101931088-101931138	AG04450	lung:	fetal
45	chr7:101931734-101931784	AG10803	skin:	n/a
46	chr7:101934892-101934942	AG10803	skin:	n/a
47	chr7:101922985-101923035	HCM	heart:	n/a
48	chr7:101934892-101934942	HCM	heart:	n/a
49	chr7:101930366-101930416	HCF	heart:	n/a
50	chr7:101923726-101923776	HIPEpiC	eye:	n/a

(count:107 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:101922851..101924594-chr7:102031400..102033996,3	MCF-7	breast:
2	chr7:101921512..101923902-chr7:102035576..102038364,2	MCF-7	breast:
3	chr7:101929481..101931029-chr7:101947545..101949971,2	MCF-7	breast:
4	chr7:101928852..101930744-chr8:142423971..142426951,2	MCF-7	breast:
5	chr7:101937292..101939869-chr7:101943781..101946612,4	MCF-7	breast:
6	chr7:101914536..101919891-chr7:101927361..101932016,8	MCF-7	breast:
7	chr7:101928787..101931103-chr7:102068697..102071521,3	MCF-7	breast:
8	chr2:38977978..38978650-chr7:101929677..101930517,2	Hela-S3	cervix:
9	chr7:101924242..101933059-chr7:102034727..102040076,14	MCF-7	breast:
10	chr7:101913664..101916452-chr7:101928530..101931361,3	MCF-7	breast:
11	chr7:101928654..101931146-chr7:101953140..101955498,2	MCF-7	breast:
12	chr7:101933755..101935437-chr7:101946466..101948365,2	K562	blood:
13	chr7:101937262..101939151-chr7:101958564..101960798,2	MCF-7	breast:
14	chr7:101185795..101186925-chr7:101915530..101916325,7	K562	blood:
15	chr7:101928502..101930239-chr7:101943299..101944976,2	K562	blood:
16	chr11:82867985..82868572-chr7:101920666..101921266,2	NB4	blood:
17	chr7:101931459..101933316-chr7:102074143..102076023,2	K562	blood:
18	chr7:101456296..101461488-chr7:101913983..101918398,7	MCF-7	breast:
19	chr7:101921464..101924386-chr7:102034255..102038288,3	MCF-7	breast:
20	chr7:101928402..101930093-chr7:102073347..102075211,2	K562	blood:
21	chr7:101928798..101932445-chr7:101950032..101952249,4	MCF-7	breast:
22	chr7:101924860..101932400-chr7:102029531..102038487,21	MCF-7	breast:
23	chr7:101922726..101924233-chr7:101957519..101959738,2	MCF-7	breast:
24	chr7:101264280..101265109-chr7:101915196..101916107,2	K562	blood:
25	chr7:101929445..101932504-chr7:101961443..101964470,3	MCF-7	breast:
26	chr7:101455693..101458203-chr7:101915599..101917150,2	MCF-7	breast:
27	chr7:101929193..101933114-chr7:102002714..102005580,3	K562	blood:
28	chr7:101922758..101923352-chr7:102090378..102091025,2	MCF-7	breast:
29	chr7:101245468..101246352-chr7:101915597..101916163,4	K562	blood:
30	chr7:101929723..101930292-chr9:115983304..115983823,2	MCF-7	breast:
31	chr7:101933934..101936298-chr7:101951581..101953703,2	MCF-7	breast:
32	chr7:101922644..101923376-chr7:102090423..102091348,2	MCF-7	breast:
33	chr7:101918155..101921057-chr7:102028021..102030114,2	MCF-7	breast:
34	chr7:101912928..101918938-chr7:101926951..101931541,5	K562	blood:
35	chr7:101931480..101934447-chr7:101940162..101942129,3	MCF-7	breast:
36	chr7:101929038..101929614-chr7:102030921..102031723,2	MCF-7	breast:
37	chr7:101935291..101937717-chr7:101943304..101946108,2	K562	blood:
38	chr7:101913664..101916452-chr7:101928530..101931361,3	MCF-7	breast:
39	chr7:101930001..101933436-chr7:101942768..101945617,4	MCF-7	breast:
40	chr7:101927779..101934386-chr7:102001430..102005829,12	MCF-7	breast:
41	chr7:101168305..101170280-chr7:101929643..101931645,2	K562	blood:
42	chr12:27175042..27175990-chr7:101929910..101930666,2	NB4	blood:
43	chr5:11784634..11787064-chr7:101928617..101931405,2	MCF-7	breast:
44	chr7:101185838..101186446-chr7:101915281..101916199,2	MCF-7	breast:
45	chr7:101928479..101930967-chr7:101967385..101968999,2	MCF-7	breast:
46	chr7:101928285..101931151-chr7:101931936..101935513,3	K562	blood:
47	chr7:101928482..101930196-chr7:102103795..102105466,2	MCF-7	breast:
48	chr7:101928656..101931104-chr7:102073505..102075200,3	MCF-7	breast:
49	chr16:74734498..74735318-chr7:101929629..101930391,2	Hela-S3	cervix:
50	chr7:101922722..101923289-chr7:102036073..102036657,2	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4285	chr7:101936379-101936396	MIMAT0016913

No data

Variant related genes	Relation type
SH2B2	TF binding region
MIR4285	TF binding region
CUX1	TF binding region
SH2B2	CpG island
MIR4285	CpG island
CUX1	CpG island
ENSG00000165494	chromatin interactions
ENSG00000119321	chromatin interactions
ENSG00000245146	chromatin interactions
ENSG00000264471	chromatin interactions
ENSG00000264675	chromatin interactions
ENSG00000128563	chromatin interactions
ENSG00000161036	chromatin interactions
ENSG00000239480	chromatin interactions
ENSG00000059804	chromatin interactions
ENSG00000239969	chromatin interactions
ENSG00000160993	chromatin interactions
ENSG00000136868	chromatin interactions
ENSG00000185129	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000160991	chromatin interactions
ENSG00000152944	chromatin interactions
ENSG00000115504	chromatin interactions
ENSG00000239486	chromatin interactions
ENSG00000160999	chromatin interactions
ENSG00000151092	chromatin interactions
ENSG00000257923	chromatin interactions
ENSG00000260430	chromatin interactions
ENSG00000168404	chromatin interactions
ENSG00000212195	chromatin interactions

Extended variants
information (count: 1602 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1602 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543055655	chr7:101912328-101912329	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs186108746	chr7:101912383-101912384	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532346670	chr7:101912386-101912387	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142275930	chr7:101912399-101912400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112967210	chr7:101912402-101912403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs143751622	chr7:101912428-101912429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547544242	chr7:101912462-101912463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559090709	chr7:101912471-101912472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191004418	chr7:101912489-101912490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183108379	chr7:101912495-101912496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567423126	chr7:101912505-101912506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370084668	chr7:101912539-101912540	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537844544	chr7:101912558-101912559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73187871	chr7:101912606-101912607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185544568	chr7:101912619-101912620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538768816	chr7:101912665-101912666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540561132	chr7:101912688-101912689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376713411	chr7:101912689-101912690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201452988	chr7:101912699-101912700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2960239	chr7:101912728-101912729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs566180238	chr7:101912780-101912781	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190007954	chr7:101912789-101912790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2960238	chr7:101912826-101912827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536848061	chr7:101912827-101912828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373534216	chr7:101912832-101912833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576253662	chr7:101912840-101912841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs543398603	chr7:101912842-101912843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs71123030	chr7:101912848-101912849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145914378	chr7:101912849-101912850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs11770275	chr7:101912870-101912871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564766128	chr7:101912877-101912878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576791274	chr7:101912914-101912915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369023083	chr7:101912949-101912950	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs550636692	chr7:101912977-101912978	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs569139207	chr7:101912988-101912989	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs139056978	chr7:101912992-101912993	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs182901988	chr7:101913005-101913006	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs536437848	chr7:101913038-101913039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs587675232	chr7:101913092-101913093	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs371054552	chr7:101913093-101913094	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs369459046	chr7:101913096-101913097	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs3077415	chr7:101913098-101913099	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs200154483	chr7:101913100-101913101	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs376414072	chr7:101913102-101913103	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs187243270	chr7:101913131-101913132	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs73712451	chr7:101913142-101913143	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs1725602	chr7:101913172-101913173	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs561036176	chr7:101913186-101913187	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs1734734	chr7:101913209-101913210	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs531746516	chr7:101913218-101913219	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1593 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101892800-101928000	Weak transcription	Esophagus	oesophagus
2	chr7:101892800-101928400	Weak transcription	Right Ventricle	heart
3	chr7:101893800-101913400	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:101894000-101916800	Weak transcription	Lung	lung
5	chr7:101897400-101915400	Weak transcription	Pancreas	Pancrea
6	chr7:101897600-101928000	Weak transcription	Primary T cells from cord blood	blood
7	chr7:101898000-101928200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:101898200-101922600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:101899800-101922800	Weak transcription	Right Atrium	heart
10	chr7:101900200-101915600	Weak transcription	Fetal Intestine Small	intestine
11	chr7:101902000-101917000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:101904600-101922800	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:101904600-101928200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:101905000-101915400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:101905200-101915400	Weak transcription	Brain Substantia Nigra	brain
16	chr7:101908000-101913800	Weak transcription	Spleen	Spleen
17	chr7:101908000-101917400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:101908000-101929200	Weak transcription	Gastric	stomach
19	chr7:101908200-101913000	Weak transcription	Fetal Lung	lung
20	chr7:101908400-101913000	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:101908400-101913000	Weak transcription	HepG2	liver
22	chr7:101908400-101913400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:101908400-101922600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:101910200-101928400	Weak transcription	Liver	Liver
25	chr7:101911400-101912400	Enhancers	Fetal Thymus	thymus
26	chr7:101911800-101912400	Enhancers	Thymus	Thymus
27	chr7:101912200-101913400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:101912200-101915800	Weak transcription	K562	blood
29	chr7:101912200-101922600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:101912400-101922600	Weak transcription	Fetal Thymus	thymus
31	chr7:101913000-101913200	Enhancers	HepG2	liver
32	chr7:101913000-101913800	Enhancers	Fetal Muscle Trunk	muscle
33	chr7:101913000-101914000	Enhancers	Fetal Lung	lung
34	chr7:101913000-101914400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr7:101913000-101914400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:101913000-101914400	Enhancers	Fetal Muscle Leg	muscle
37	chr7:101913200-101913400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:101913200-101913600	Enhancers	Fetal Brain Male	brain
39	chr7:101913200-101913600	Flanking Active TSS	HepG2	liver
40	chr7:101913200-101914200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr7:101913200-101914200	Bivalent Enhancer	Fetal Stomach	stomach
42	chr7:101913400-101913600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:101913400-101913800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:101913400-101914400	Enhancers	Brain Cingulate Gyrus	brain
45	chr7:101913400-101914400	Enhancers	Brain Hippocampus Middle	brain
46	chr7:101913400-101916600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:101913600-101915200	Weak transcription	HepG2	liver
48	chr7:101913600-101915400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:101913800-101914400	Genic enhancers	Spleen	Spleen
50	chr7:101913800-101914600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links