Variant report

Variant	nsv887419
Chromosome Location	chr7:5703669-5820383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2259)
CpG islands
(count:1039)
Chromatin interactive
region (count:211)
LncRNA
region (count:10)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:2259 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:5733216-5733346	K562	blood:	n/a	n/a
2	ARID3A	chr7:5807434-5807806	HepG2	liver:	n/a	chr7:5807779-5807795
3	ARID3A	chr7:5795066-5795627	K562	blood:	n/a	n/a
4	ARID3A	chr7:5813469-5813783	K562	blood:	n/a	n/a
5	ATF1	chr7:5795291-5795600	K562	blood:	n/a	n/a
6	ATF1	chr7:5733174-5733503	K562	blood:	n/a	n/a
7	ATF2	chr7:5732593-5735757	GM12878	blood:	n/a	n/a
8	ATF2	chr7:5732828-5735667	GM12878	blood:	n/a	n/a
9	ATF2	chr7:5740476-5741188	GM12878	blood:	n/a	n/a
10	ATF2	chr7:5719591-5720169	GM12878	blood:	n/a	n/a
11	ATF2	chr7:5738974-5740374	GM12878	blood:	n/a	n/a
12	ATF2	chr7:5739046-5741421	GM12878	blood:	n/a	n/a
13	ATF3	chr7:5813323-5813726	K562	blood:	n/a	chr7:5813565-5813579
14	ATF3	chr7:5705036-5705355	K562	blood:	n/a	n/a
15	BACH1	chr7:5740831-5741053	H1-hESC	embryonic stem cell:	n/a	chr7:5740930-5740944
16	BACH1	chr7:5810847-5810938	K562	blood:	n/a	n/a
17	BACH1	chr7:5722493-5722849	K562	blood:	n/a	n/a
18	BACH1	chr7:5795215-5795679	K562	blood:	n/a	n/a
19	BACH1	chr7:5743845-5744457	K562	blood:	n/a	n/a
20	BACH1	chr7:5722464-5722877	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr7:5795391-5795591	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr7:5706119-5706180	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr7:5743825-5744483	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr7:5704998-5705370	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr7:5717667-5717963	H1-hESC	embryonic stem cell:	n/a	n/a
26	BATF	chr7:5739671-5740018	GM12878	blood:	n/a	n/a
27	BATF	chr7:5740589-5741297	GM12878	blood:	n/a	chr7:5740929-5740940 chr7:5740930-5740940
28	BATF	chr7:5739677-5739969	GM12878	blood:	n/a	n/a
29	BATF	chr7:5735116-5735510	GM12878	blood:	n/a	n/a
30	BATF	chr7:5734904-5735533	GM12878	blood:	n/a	n/a
31	BATF	chr7:5771063-5771338	GM12878	blood:	n/a	n/a
32	BATF	chr7:5730343-5730657	GM12878	blood:	n/a	chr7:5730559-5730569
33	BATF	chr7:5740767-5741120	GM12878	blood:	n/a	chr7:5740929-5740940 chr7:5740930-5740940
34	BCL11A	chr7:5734858-5735540	GM12878	blood:	n/a	n/a
35	BCL11A	chr7:5740817-5741202	GM12878	blood:	n/a	chr7:5740932-5740941 chr7:5740933-5740942
36	BCL11A	chr7:5735090-5735442	GM12878	blood:	n/a	n/a
37	BCL11A	chr7:5739656-5740030	GM12878	blood:	n/a	n/a
38	BCL11A	chr7:5739609-5740017	GM12878	blood:	n/a	n/a
39	BCL11A	chr7:5740019-5740349	GM12878	blood:	n/a	n/a
40	BCL11A	chr7:5719764-5720011	GM12878	blood:	n/a	n/a
41	BCL11A	chr7:5732957-5733586	GM12878	blood:	n/a	n/a
42	BCL11A	chr7:5740732-5741187	GM12878	blood:	n/a	chr7:5740932-5740941 chr7:5740933-5740942
43	BCL11A	chr7:5733149-5733419	GM12878	blood:	n/a	n/a
44	BCL3	chr7:5739530-5740089	GM12878	blood:	n/a	n/a
45	BCL3	chr7:5731506-5732896	A549	lung:	n/a	n/a
46	BCL3	chr7:5730308-5730684	GM12878	blood:	n/a	n/a
47	BCL3	chr7:5731688-5732221	A549	lung:	n/a	n/a
48	BCL3	chr7:5736686-5737131	GM12878	blood:	n/a	n/a
49	BCL3	chr7:5734690-5735476	GM12878	blood:	n/a	n/a
50	BCL3	chr7:5740682-5741206	GM12878	blood:	n/a	chr7:5740932-5740941 chr7:5740933-5740942

(count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5743854-5743904	H1-hESC	embryonic stem cell:	embryo
2	chr7:5731340-5731390	HUVEC	blood vessel:	n/a
3	chr7:5743854-5743904	H1-hESC	embryonic stem cell:	embryo
4	chr7:5731340-5731390	HUVEC	blood vessel:	n/a
5	chr7:5731340-5731390	BE2_C	brain:	n/a
6	chr7:5743854-5743904	LNCaP	prostate:	n/a
7	chr7:5709854-5709904	AG04450	lung:	fetal
8	chr7:5717968-5718018	AG04450	lung:	fetal
9	chr7:5735123-5735173	HL-60	blood:	n/a
10	chr7:5709854-5709904	BJ	skin:	n/a
11	chr7:5812747-5812797	NH-A	brain:	n/a
12	chr7:5731340-5731390	NH-A	brain:	n/a
13	chr7:5709854-5709904	PFSK-1	brain:	n/a
14	chr7:5717675-5717725	Hela-S3	cervix:	n/a
15	chr7:5735123-5735173	IMR90	lung:	fetal
16	chr7:5785550-5785600	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:5731340-5731390	H1-hESC	embryonic stem cell:	embryo
18	chr7:5717968-5718018	H1-hESC	embryonic stem cell:	embryo
19	chr7:5812747-5812797	HPAEpiC	pulmonary alveolar:	n/a
20	chr7:5712269-5712319	NB4	blood:	n/a
21	chr7:5731340-5731390	AoSMC	blood vessel:	n/a
22	chr7:5717968-5718018	SK-N-MC	brain:	n/a
23	chr7:5819198-5819248	SAEC	small airway:	n/a
24	chr7:5717675-5717725	NH-A	brain:	n/a
25	chr7:5712269-5712319	Hela-S3	cervix:	n/a
26	chr7:5705264-5705314	IMR90	lung:	fetal
27	chr7:5712269-5712319	MCF10A-Er-Src	breast:	n/a
28	chr7:5712269-5712319	A549	lung:	n/a
29	chr7:5776279-5776329	HAEpiC	amniotic membrane:	n/a
30	chr7:5731340-5731390	AG09319	gingival:	n/a
31	chr7:5706684-5706734	ProgFib	skin:	n/a
32	chr7:5705264-5705314	HCT-116	colon:	n/a
33	chr7:5735129-5735179	LNCaP	prostate:	n/a
34	chr7:5735123-5735173	A549	lung:	n/a
35	chr7:5735129-5735179	MCF-7	breast:	n/a
36	chr7:5812747-5812797	AoSMC	blood vessel:	n/a
37	chr7:5819198-5819248	HCF	heart:	n/a
38	chr7:5735123-5735173	Hepatocyte	liver:	n/a
39	chr7:5812747-5812797	PANC-1	pancreas:	n/a
40	chr7:5717968-5718018	Hela-S3	cervix:	n/a
41	chr7:5735123-5735173	PANC-1	pancreas:	n/a
42	chr7:5731340-5731390	SK-N-SH_RA	brain:	n/a
43	chr7:5717968-5718018	AG09309	skin:	n/a
44	chr7:5812747-5812797	HEEpiC	esophagus:	n/a
45	chr7:5712269-5712319	HL-60	blood:	n/a
46	chr7:5776279-5776329	AG09319	gingival:	n/a
47	chr7:5819198-5819248	HCM	heart:	n/a
48	chr7:5812747-5812797	GM12892	blood:	n/a
49	chr7:5806497-5806547	Jurkat	blood:	n/a
50	chr7:5735123-5735173	GM12892	blood:	n/a

(count:211 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr7:5566402..5567944-chr7:5708941..5711902,2	K562	blood:
2	chr7:5726904..5729292-chr7:5737755..5739393,2	K562	blood:
3	chr7:5702659..5705052-chr7:5710002..5711592,2	K562	blood:
4	chr7:5601361..5603179-chr7:5781654..5783256,2	K562	blood:
5	chr7:5736035..5737796-chr7:5742971..5745754,2	K562	blood:
6	chr7:5012983..5015694-chr7:5819277..5821133,2	K562	blood:
7	chr7:5602877..5603826-chr7:5704704..5705692,6	MCF-7	breast:
8	chr7:5734531..5737530-chr7:5742995..5745148,2	K562	blood:
9	chr7:5708885..5710643-chr7:5716339..5719013,2	K562	blood:
10	chr7:5741868..5743994-chr7:5746945..5748590,2	MCF-7	breast:
11	chr7:5568044..5571320-chr7:5743325..5746432,4	K562	blood:
12	chr7:5804467..5808977-chr7:5818984..5822702,6	MCF-7	breast:
13	chr7:5729527..5732207-chr7:5738007..5741204,4	K562	blood:
14	chr7:5702659..5705852-chr7:5707033..5711502,4	K562	blood:
15	chr7:5812370..5815650-chr7:5819494..5823462,5	K562	blood:
16	chr7:5602905..5603944-chr7:5717247..5718273,6	MCF-7	breast:
17	chr7:5697370..5699882-chr7:5703729..5706961,3	MCF-7	breast:
18	chr7:5811498..5815650-chr7:5819399..5823462,6	K562	blood:
19	chr7:5747779..5749512-chr7:5750944..5752656,2	K562	blood:
20	chr7:5748877..5750646-chr7:5760889..5763281,2	MCF-7	breast:
21	chr7:5742111..5744316-chr7:5749333..5751085,2	K562	blood:
22	chr7:5569630..5571258-chr7:5725925..5727673,2	MCF-7	breast:
23	chr7:5703574..5706893-chr7:5712842..5714768,3	MCF-7	breast:
24	chr7:5534013..5534911-chr7:5717343..5717887,3	K562	blood:
25	chr7:5731961..5734457-chr7:5739866..5742131,3	MCF-7	breast:
26	chr7:5533923..5534909-chr7:5704699..5705651,6	K562	blood:
27	chr7:5723586..5725455-chr7:5729876..5731680,2	K562	blood:
28	chr7:5741868..5743994-chr7:5746945..5748590,2	MCF-7	breast:
29	chr7:5012944..5014466-chr7:5819776..5821589,2	MCF-7	breast:
30	chr7:5732704..5734919-chr7:5739330..5741424,2	K562	blood:
31	chr7:5595299..5597821-chr7:5720043..5723343,4	MCF-7	breast:
32	chr7:5705408..5708963-chr7:5711665..5713452,3	K562	blood:
33	chr7:5703574..5706893-chr7:5712842..5714768,3	MCF-7	breast:
34	chr7:5706003..5708610-chr7:5751517..5753079,2	K562	blood:
35	chr7:5405392..5406278-chr7:5743821..5744759,2	K562	blood:
36	chr7:5600754..5602695-chr7:5743222..5745782,2	MCF-7	breast:
37	chr7:5534705..5536211-chr7:5710695..5713357,2	K562	blood:
38	chr7:5723586..5725455-chr7:5729876..5731680,2	K562	blood:
39	chr7:5594344..5596606-chr7:5743291..5745974,2	K562	blood:
40	chr7:5790126..5791962-chr7:5819797..5822715,2	MCF-7	breast:
41	chr7:5726446..5729138-chr7:5729768..5731774,3	MCF-7	breast:
42	chr7:5597370..5600329-chr7:5734378..5736141,2	MCF-7	breast:
43	chr7:5573239..5574799-chr7:5704370..5707092,2	K562	blood:
44	chr7:5630447..5635132-chr7:5701800..5706734,6	K562	blood:
45	chr7:5733734..5736608-chr7:5749498..5751681,2	K562	blood:
46	chr7:5465182..5466717-chr7:5734558..5737201,2	MCF-7	breast:
47	chr7:5739854..5741954-chr7:5752710..5755098,3	K562	blood:
48	chr7:5748877..5750646-chr7:5760889..5763281,2	MCF-7	breast:
49	chr7:5790125..5792090-chr7:5812066..5813881,3	K562	blood:
50	chr7:5659044..5660899-chr7:5710392..5712990,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSPH10B-2	chr7:5806526-5806570	NONHSAT118935
2	lnc-RSPH10B-3	chr7:5786142-5786425	ucscGeneNc_uc003spb_2
3	lnc-ACTB-1	chr7:5706241-5706335	ENSG00000237738.1
4	lnc-RSPH10B-2	chr7:5817118-5817259	NONHSAT118935
5	lnc-RSPH10B-2	chr7:5817157-5817259	NONHSAT118936
6	lnc-RSPH10B-2	chr7:5819616-5819899	NONHSAT118936
7	lnc-RSPH10B-3	chr7:5783685-5783785	ucscGeneNc_uc003spb_2
8	lnc-RSPH10B-2	chr7:5819616-5819923	NONHSAT118935
9	lnc-RSPH10B-2	chr7:5800719-5800769	NONHSAT118935
10	lnc-ACTB-1	chr7:5719985-5720092	ENSG00000237738.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6874-3p	chr7:5751471-5751493	MIMAT0027649
hsa-miR-6874-5p	chr7:5751514-5751536	MIMAT0027648

No data

Variant related genes	Relation type
RNF216-IT1	TF binding region
RNF216	TF binding region
RNF216-IT1	CpG island
RNF216	CpG island
ENSG00000272719	chromatin interactions
ENSG00000075618	chromatin interactions
ENSG00000196204	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000263900	chromatin interactions
ENSG00000237738	chromatin interactions
ENSG00000272953	chromatin interactions
ENSG00000207973	chromatin interactions
ENSG00000011275	chromatin interactions
ENSG00000182095	chromatin interactions

Extended variants
information (count: 5734 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:5734 , 50 per page) page: 1 2 3 4 5 6 7 ... 115

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs852417	chr7:5703669-5703670	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115742726	chr7:5703700-5703701	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs73338095	chr7:5703705-5703706	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532772302	chr7:5703719-5703720	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs539544908	chr7:5703723-5703724	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs550912656	chr7:5703754-5703755	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs558257533	chr7:5703779-5703780	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs34017103	chr7:5703800-5703801	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs530681340	chr7:5703831-5703832	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs549243467	chr7:5703853-5703854	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs113848092	chr7:5703880-5703881	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs534807087	chr7:5703935-5703936	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs184422665	chr7:5703936-5703937	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs77573249	chr7:5703977-5703978	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs188869771	chr7:5703978-5703979	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs539057877	chr7:5703995-5703996	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs143621805	chr7:5704072-5704073	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs372838930	chr7:5704085-5704086	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs575581412	chr7:5704086-5704087	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs542981780	chr7:5704145-5704146	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs147976207	chr7:5704174-5704175	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs576126387	chr7:5704248-5704249	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs573396190	chr7:5704291-5704292	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs372791347	chr7:5704304-5704305	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs181652669	chr7:5704313-5704314	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs559024068	chr7:5704314-5704315	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs543616681	chr7:5704326-5704327	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs186460948	chr7:5704330-5704331	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs555331261	chr7:5704332-5704333	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs563171830	chr7:5704333-5704334	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs530502490	chr7:5704351-5704352	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs529587217	chr7:5704371-5704372	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs549053190	chr7:5704399-5704400	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs567512032	chr7:5704425-5704426	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs28673800	chr7:5704432-5704433	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs555623873	chr7:5704489-5704490	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs367550938	chr7:5704490-5704491	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs573985828	chr7:5704496-5704497	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs528278930	chr7:5704503-5704504	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs145945121	chr7:5704572-5704573	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs189661572	chr7:5704573-5704574	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs539172320	chr7:5704589-5704590	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs551074611	chr7:5704615-5704616	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs569204422	chr7:5704637-5704638	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs180890648	chr7:5704675-5704676	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs577747907	chr7:5704709-5704710	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs138562671	chr7:5704718-5704719	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs573434325	chr7:5704726-5704727	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs534143294	chr7:5704728-5704729	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs185280948	chr7:5704741-5704742	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	17440070	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	21346763	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:5920 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5674800-5728200	Weak transcription	Small Intestine	intestine
2	chr7:5677200-5707200	Weak transcription	Stomach Mucosa	stomach
3	chr7:5677400-5706200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:5679200-5706000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:5683600-5710400	Weak transcription	Colonic Mucosa	Colon
6	chr7:5689800-5704000	Weak transcription	Fetal Brain Female	brain
7	chr7:5690200-5704000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:5690200-5706000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:5690600-5704200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:5690600-5704200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:5690800-5704000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:5691000-5712000	Weak transcription	Fetal Kidney	kidney
13	chr7:5691200-5721000	Weak transcription	Pancreas	Pancrea
14	chr7:5692200-5704000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:5692600-5717400	Weak transcription	Hela-S3	cervix
16	chr7:5695400-5703800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:5695400-5703800	Strong transcription	Fetal Stomach	stomach
18	chr7:5695400-5704200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:5695400-5704600	Strong transcription	Fetal Intestine Small	intestine
20	chr7:5697800-5704200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:5699200-5723000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:5700200-5704200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:5700600-5703800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:5700800-5704400	Strong transcription	Dnd41	blood
25	chr7:5701600-5706000	Weak transcription	Placenta	Placenta
26	chr7:5702000-5717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:5702000-5730600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:5702200-5704000	Weak transcription	Fetal Brain Male	brain
29	chr7:5702200-5704200	Strong transcription	Primary T cells from cord blood	blood
30	chr7:5702200-5704800	Weak transcription	Fetal Heart	heart
31	chr7:5702200-5704800	Weak transcription	A549	lung
32	chr7:5702200-5705000	Weak transcription	Osteobl	bone
33	chr7:5702200-5707200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:5702400-5704200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr7:5702400-5704800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:5702400-5704800	Weak transcription	Fetal Thymus	thymus
37	chr7:5702400-5705200	Enhancers	Brain Hippocampus Middle	brain
38	chr7:5702400-5707200	Weak transcription	Left Ventricle	heart
39	chr7:5702400-5707200	Weak transcription	Right Ventricle	heart
40	chr7:5702400-5708600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr7:5702400-5710400	Weak transcription	NHEK	skin
42	chr7:5702400-5712600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:5702400-5717000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:5702400-5721400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:5702600-5704000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:5702600-5704800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:5702600-5704800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:5702600-5704800	Weak transcription	K562	blood
49	chr7:5702600-5704800	Weak transcription	NHDF-Ad	bronchial
50	chr7:5702600-5705000	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links