Variant report

Variant	esv2762214
Chromosome Location	chr1:197821769-197897496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1563)
CpG islands
(count:4030)
Chromatin interactive
region (count:90)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1563 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:197885015-197885113	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:197871848-197872209	K562	blood:	n/a	n/a
3	ARID3A	chr1:197861848-197862147	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:197893568-197893937	K562	blood:	n/a	n/a
5	ARID3A	chr1:197871794-197872304	HepG2	liver:	n/a	n/a
6	ATF1	chr1:197838078-197838389	K562	blood:	n/a	n/a
7	ATF1	chr1:197865021-197865169	K562	blood:	n/a	n/a
8	ATF3	chr1:197871629-197872362	A549	lung:	n/a	chr1:197871703-197871712
9	ATF3	chr1:197893636-197893970	K562	blood:	n/a	n/a
10	BACH1	chr1:197872182-197872279	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr1:197868209-197868540	K562	blood:	n/a	n/a
12	BACH1	chr1:197833396-197833399	K562	blood:	n/a	n/a
13	BACH1	chr1:197890262-197890585	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr1:197871601-197871771	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL3	chr1:197871696-197872451	A549	lung:	n/a	n/a
16	BCLAF1	chr1:197871518-197872324	K562	blood:	n/a	n/a
17	BCLAF1	chr1:197871405-197872155	GM12878	blood:	n/a	n/a
18	BHLHE40	chr1:197871660-197872193	GM12878	blood:	n/a	chr1:197871740-197871756
19	BHLHE40	chr1:197897108-197897335	HepG2	liver:	n/a	n/a
20	BHLHE40	chr1:197853405-197853712	HepG2	liver:	n/a	n/a
21	BHLHE40	chr1:197870498-197870611	K562	blood:	n/a	n/a
22	BHLHE40	chr1:197871570-197872270	HepG2	liver:	n/a	chr1:197871740-197871756 chr1:197871588-197871604
23	BHLHE40	chr1:197871482-197872604	K562	blood:	n/a	chr1:197871740-197871756 chr1:197871588-197871604
24	BRCA1	chr1:197871803-197871892	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr1:197871765-197871960	HepG2	liver:	n/a	n/a
26	BRCA1	chr1:197871287-197872629	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr1:197837976-197838478	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr1:197885343-197885359	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr1:197879713-197879855	H1-hESC	embryonic stem cell:	n/a	n/a
30	CBX3	chr1:197871205-197872538	K562	blood:	n/a	n/a
31	CBX3	chr1:197853175-197853567	K562	blood:	n/a	n/a
32	CBX3	chr1:197857704-197857973	K562	blood:	n/a	n/a
33	CBX3	chr1:197857613-197858001	K562	blood:	n/a	n/a
34	CBX3	chr1:197877727-197878051	K562	blood:	n/a	n/a
35	CCNT2	chr1:197871499-197872487	K562	blood:	n/a	n/a
36	CEBPB	chr1:197858605-197858654	K562	blood:	n/a	n/a
37	CEBPB	chr1:197825545-197825811	A549	lung:	n/a	chr1:197825714-197825725
38	CEBPB	chr1:197862677-197863003	HepG2	liver:	n/a	chr1:197862826-197862837
39	CEBPB	chr1:197889543-197889707	H1-hESC	embryonic stem cell:	n/a	chr1:197889652-197889663
40	CEBPB	chr1:197861824-197862191	HepG2	liver:	n/a	chr1:197861994-197862005
41	CEBPB	chr1:197861923-197862131	A549	lung:	n/a	chr1:197861994-197862005
42	CEBPB	chr1:197871465-197871475	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr1:197822882-197823121	K562	blood:	n/a	n/a
44	CEBPB	chr1:197825569-197825811	HepG2	liver:	n/a	chr1:197825714-197825725
45	CEBPB	chr1:197861893-197862116	HepG2	liver:	n/a	chr1:197861994-197862005
46	CEBPB	chr1:197822953-197823112	HepG2	liver:	n/a	n/a
47	CEBPB	chr1:197889573-197889787	K562	blood:	n/a	chr1:197889652-197889663
48	CEBPB	chr1:197862723-197862923	A549	lung:	n/a	chr1:197862826-197862837
49	CEBPB	chr1:197871790-197871916	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr1:197833051-197833244	HepG2	liver:	n/a	n/a

(count:4030 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:197873430-197873480	PANC-1	pancreas:	n/a
2	chr1:197881774-197881824	AG04449	skin:	fetal
3	chr1:197873880-197873930	HPAEpiC	pulmonary alveolar:	n/a
4	chr1:197880923-197880973	IMR90	lung:	fetal
5	chr1:197873430-197873480	PANC-1	pancreas:	n/a
6	chr1:197881774-197881824	AG04449	skin:	fetal
7	chr1:197873880-197873930	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:197880923-197880973	IMR90	lung:	fetal
9	chr1:197883190-197883240	SK-N-SH_RA	brain:	n/a
10	chr1:197889163-197889213	PANC-1	pancreas:	n/a
11	chr1:197860832-197860882	A549	lung:	n/a
12	chr1:197882836-197882886	NH-A	brain:	n/a
13	chr1:197871594-197871644	SAEC	small airway:	n/a
14	chr1:197880923-197880973	Jurkat	blood:	n/a
15	chr1:197889693-197889743	PrEC	prostate:	n/a
16	chr1:197886681-197886731	HEK293	kidney:	embryo
17	chr1:197872294-197872344	ProgFib	skin:	n/a
18	chr1:197884759-197884809	NH-A	brain:	n/a
19	chr1:197887295-197887345	HepG2	liver:	n/a
20	chr1:197871594-197871644	HCT-116	colon:	n/a
21	chr1:197871534-197871584	HRCEpiC	kidney:	n/a
22	chr1:197887649-197887699	SK-N-SH_RA	brain:	n/a
23	chr1:197872192-197872242	HCPEpiC	choroid plexus:	n/a
24	chr1:197893920-197893970	HUVEC	blood vessel:	n/a
25	chr1:197871534-197871584	SAEC	small airway:	n/a
26	chr1:197871600-197871650	SK-N-SH	brain:	n/a
27	chr1:197882295-197882345	NT2-D1	testis:	n/a
28	chr1:197888305-197888355	NHBE	bronchial:	n/a
29	chr1:197871534-197871584	HRE	kidney:	n/a
30	chr1:197887649-197887699	HAEpiC	amniotic membrane:	n/a
31	chr1:197879766-197879816	NT2-D1	testis:	n/a
32	chr1:197889248-197889298	H1-hESC	embryonic stem cell:	embryo
33	chr1:197880663-197880713	GM12891	blood:	n/a
34	chr1:197871594-197871644	HPAEpiC	pulmonary alveolar:	n/a
35	chr1:197875080-197875130	HAEpiC	amniotic membrane:	n/a
36	chr1:197887295-197887345	HRCEpiC	kidney:	n/a
37	chr1:197888123-197888173	K562	blood:	n/a
38	chr1:197885607-197885657	IMR90	lung:	fetal
39	chr1:197873880-197873930	CMK	blood:	n/a
40	chr1:197882469-197882519	MCF10A-Er-Src	breast:	n/a
41	chr1:197887295-197887345	NH-A	brain:	n/a
42	chr1:197881741-197881791	HNPCEpiC	eye:	n/a
43	chr1:197888469-197888519	IMR90	lung:	fetal
44	chr1:197881471-197881521	RPTEC	kidney:	n/a
45	chr1:197890479-197890529	HRE	kidney:	n/a
46	chr1:197874077-197874127	NB4	blood:	n/a
47	chr1:197881774-197881824	ovcar-3	ovarian:	n/a
48	chr1:197879766-197879816	PrEC	prostate:	n/a
49	chr1:197883190-197883240	HepG2	liver:	n/a
50	chr1:197871836-197871886	SK-N-SH_RA	brain:	n/a

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:197837087..197838981-chr1:197871128..197873334,2	K562	blood:
2	chr1:197868383..197873929-chr1:197879774..197886951,11	K562	blood:
3	chr1:197583975..197584970-chr1:197837652..197838487,2	MCF-7	breast:
4	chr1:197369298..197369841-chr1:197893280..197894107,2	MCF-7	breast:
5	chr1:197844025..197847806-chr1:197870226..197873656,3	MCF-7	breast:
6	chr1:197827949..197829733-chr1:197829905..197832010,2	MCF-7	breast:
7	chr1:197588307..197588845-chr1:197837719..197838502,3	MCF-7	breast:
8	chr1:197828498..197830779-chr1:197836162..197838765,2	K562	blood:
9	chr1:197868359..197870237-chr1:197972467..197974974,2	MCF-7	breast:
10	chr1:197584129..197584940-chr1:197893429..197894167,4	MCF-7	breast:
11	chr1:197870937..197874822-chr1:197875641..197879662,5	K562	blood:
12	chr1:197661828..197662611-chr1:197837848..197838634,2	MCF-7	breast:
13	chr1:197490338..197491289-chr1:197893428..197894214,3	MCF-7	breast:
14	chr1:197857645..197862735-chr1:197869365..197873854,5	K562	blood:
15	chr1:197871380..197872115-chr21:30396777..30397397,2	Hela-S3	cervix:
16	chr1:197854984..197856657-chr1:197868771..197871042,2	MCF-7	breast:
17	chr1:197851494..197856453-chr1:197872506..197876205,4	K562	blood:
18	chr1:197744558..197746158-chr1:197886522..197888177,2	MCF-7	breast:
19	chr1:197496825..197498646-chr1:197892256..197894438,2	MCF-7	breast:
20	chr1:197744305..197744943-chr1:197893354..197894081,2	K562	blood:
21	chr1:197661830..197662539-chr1:197893369..197893878,3	MCF-7	breast:
22	chr1:197871305..197872284-chr19:13263884..13265085,3	Hela-S3	cervix:
23	chr1:197495874..197496814-chr1:197893397..197894241,3	MCF-7	breast:
24	chr1:197857378..197860156-chr1:197868742..197873458,6	MCF-7	breast:
25	chr1:197889791..197892957-chr1:197895831..197898506,3	K562	blood:
26	chr1:197742347..197745266-chr1:197870109..197873225,5	MCF-7	breast:
27	chr1:197890068..197892957-chr1:197897006..197899178,2	K562	blood:
28	chr1:197889791..197892957-chr1:197895831..197898506,3	K562	blood:
29	chr1:197740776..197744504-chr1:197869951..197872253,3	K562	blood:
30	chr1:197865545..197868503-chr1:197890985..197893246,2	K562	blood:
31	chr1:197895559..197897931-chr1:197903376..197905564,2	K562	blood:
32	chr1:197868383..197873929-chr1:197879774..197886951,11	K562	blood:
33	chr1:197852642..197855916-chr1:197868509..197871754,4	K562	blood:
34	chr1:197870101..197873220-chr1:197881150..197886265,4	MCF-7	breast:
35	chr1:197837094..197838066-chr1:197870113..197870986,2	MCF-7	breast:
36	chr1:197869855..197872200-chr1:198125548..198128117,2	MCF-7	breast:
37	chr1:197488575..197489479-chr1:197837963..197838594,2	K562	blood:
38	chr1:197884876..197885553-chr16:2826918..2827685,2	Hela-S3	cervix:
39	chr1:197867532..197870079-chr1:197879664..197881900,2	MCF-7	breast:
40	chr1:197895311..197899448-chr1:197962393..197965132,3	K562	blood:
41	chr1:197865545..197868503-chr1:197890985..197893246,2	K562	blood:
42	chr1:197846538..197849323-chr1:197868745..197871219,2	K562	blood:
43	chr1:197890943..197893106-chr1:197894108..197896331,3	K562	blood:
44	chr1:197854984..197856657-chr1:197868771..197871042,2	MCF-7	breast:
45	chr1:197822978..197825058-chr1:197829102..197831740,2	K562	blood:
46	chr1:197871185..197872066-chr6:27114432..27115278,2	Hela-S3	cervix:
47	chr1:197861937..197865407-chr1:197866384..197868231,3	K562	blood:
48	chr1:197846538..197849323-chr1:197868745..197871219,2	K562	blood:
49	chr1:197871528..197872350-chr3:107243706..107244283,2	Hela-S3	cervix:
50	chr1:197861937..197865407-chr1:197866384..197868231,3	K562	blood:

No data

Variant related genes	Relation type
LHX9	TF binding region
C1orf53	TF binding region
LHX9	CpG island
C1orf53	CpG island
ENSG00000267598	chromatin interactions
ENSG00000213047	chromatin interactions
ENSG00000151414	chromatin interactions
ENSG00000273254	chromatin interactions
ENSG00000143355	chromatin interactions
ENSG00000156256	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000207139	chromatin interactions
ENSG00000103363	chromatin interactions
ENSG00000203724	chromatin interactions
ENSG00000114439	chromatin interactions
ENSG00000199347	chromatin interactions

Extended variants
information (count: 2207 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:2207 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10922305	chr1:197821769-197821770	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542620122	chr1:197821830-197821831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11799471	chr1:197821839-197821840	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1039287	chr1:197821871-197821872	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544040212	chr1:197821899-197821900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184285809	chr1:197821922-197821923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542520994	chr1:197821925-197821926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563491340	chr1:197822000-197822001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532752004	chr1:197822044-197822045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568699402	chr1:197822080-197822081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541774597	chr1:197822117-197822118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1964654	chr1:197822130-197822131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs113877900	chr1:197822172-197822173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549348569	chr1:197822181-197822182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35317665	chr1:197822250-197822251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12568817	chr1:197822277-197822278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376038826	chr1:197822278-197822279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12562072	chr1:197822279-197822280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547851359	chr1:197822286-197822287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61423763	chr1:197822292-197822293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55873850	chr1:197822349-197822350	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536046803	chr1:197822355-197822356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551849806	chr1:197822371-197822372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35356819	chr1:197822392-197822393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80124655	chr1:197822415-197822416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534492199	chr1:197822463-197822464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201609307	chr1:197822471-197822472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189130779	chr1:197822501-197822502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59498839	chr1:197822502-197822503	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536653966	chr1:197822507-197822508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554626858	chr1:197822571-197822572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576496412	chr1:197822629-197822630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6700740	chr1:197822716-197822717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs71633814	chr1:197822735-197822736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181069731	chr1:197822749-197822750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546448646	chr1:197822780-197822781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551789558	chr1:197826612-197826613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75131592	chr1:197826627-197826628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570289222	chr1:197826649-197826650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371372907	chr1:197826651-197826652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4915251	chr1:197826672-197826673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs147615249	chr1:197826699-197826700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114413634	chr1:197826720-197826721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4915572	chr1:197826746-197826747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs189982831	chr1:197826761-197826762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546533967	chr1:197826786-197826787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142273382	chr1:197826788-197826789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573193185	chr1:197826804-197826805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149756893	chr1:197826805-197826806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145184048	chr1:197826845-197826846	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	20472715	CNVD
Multiple myeloma	16461302	CNVD
Leukoplakia	24403051	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:1924 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197821600-197822800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:197826600-197827200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:197827200-197829600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:197828600-197829000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:197829600-197830400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:197829600-197830800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:197830800-197838000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:197831000-197831800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:197831600-197832200	Enhancers	A549	lung
10	chr1:197831600-197832400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:197831800-197832400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:197832000-197832200	Enhancers	Fetal Intestine Small	intestine
13	chr1:197832000-197832400	Enhancers	HMEC	breast
14	chr1:197832800-197833000	Enhancers	Fetal Intestine Small	intestine
15	chr1:197837800-197838600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:197837800-197839000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:197838000-197838200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:197838000-197838600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:197838200-197838600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:197838400-197839000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:197838600-197839400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:197851600-197853000	Enhancers	Liver	Liver
23	chr1:197851800-197852200	Enhancers	HepG2	liver
24	chr1:197852200-197852600	Weak transcription	HepG2	liver
25	chr1:197852200-197855200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:197852600-197853000	Enhancers	HepG2	liver
27	chr1:197853000-197853400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr1:197853000-197853400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:197853000-197853400	Flanking Active TSS	Liver	Liver
30	chr1:197853000-197853800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:197853000-197854000	Flanking Active TSS	HepG2	liver
32	chr1:197853000-197854000	Enhancers	K562	blood
33	chr1:197853200-197853800	Enhancers	Duodenum Mucosa	Duodenum
34	chr1:197853400-197854000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:197853400-197854200	Enhancers	Liver	Liver
36	chr1:197853600-197854000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr1:197859800-197860800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:197859800-197861000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:197859800-197861600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr1:197859800-197862000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:197860000-197860800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr1:197860000-197860800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr1:197860000-197861000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:197860000-197861200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr1:197860000-197861600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:197860000-197862000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr1:197860400-197860800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:197860400-197861800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:197860400-197861800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:197861400-197862600	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links