Variant report

Variant	nsv998187
Chromosome Location	chr1:45677251-45732377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:422)
CpG islands
(count:61)
Chromatin interactive
region (count:43)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:45732045-45732310	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:45731849-45732318	K562	blood:	n/a	n/a
3	ARID3A	chr1:45712425-45712636	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:45725999-45726343	HepG2	liver:	n/a	n/a
5	ATF1	chr1:45731892-45732373	K562	blood:	n/a	n/a
6	BACH1	chr1:45732051-45732589	K562	blood:	n/a	n/a
7	BATF	chr1:45681123-45681486	GM12878	blood:	n/a	n/a
8	BATF	chr1:45681229-45681403	GM12878	blood:	n/a	n/a
9	BHLHE40	chr1:45731844-45732313	K562	blood:	n/a	n/a
10	CBX3	chr1:45723679-45724296	K562	blood:	n/a	n/a
11	CBX3	chr1:45723744-45724161	HCT-116	colon:	n/a	n/a
12	CBX3	chr1:45731667-45732457	K562	blood:	n/a	n/a
13	CBX3	chr1:45723620-45724352	K562	blood:	n/a	n/a
14	CBX3	chr1:45706909-45707227	K562	blood:	n/a	n/a
15	CCNT2	chr1:45731857-45732602	K562	blood:	n/a	n/a
16	CEBPB	chr1:45698691-45698966	HepG2	liver:	n/a	n/a
17	CEBPB	chr1:45712419-45712749	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr1:45685322-45685374	A549	lung:	n/a	n/a
19	CEBPB	chr1:45698776-45698874	K562	blood:	n/a	n/a
20	CEBPB	chr1:45685258-45685458	HepG2	liver:	n/a	n/a
21	CEBPZ	chr1:45723786-45724043	HepG2	liver:	n/a	n/a
22	CEBPZ	chr1:45732063-45732264	HepG2	liver:	n/a	n/a
23	CTCF	chr1:45696300-45696450	WERI-Rb-1	eye:	n/a	chr1:45696412-45696425
24	CTCF	chr1:45696096-45696705	HCT-116	colon:	n/a	chr1:45696412-45696425
25	CTCF	chr1:45696280-45696430	GM12873	blood:	n/a	chr1:45696412-45696425
26	CTCF	chr1:45696360-45696510	Hela-S3	cervix:	n/a	chr1:45696412-45696425
27	CTCF	chr1:45696267-45696537	H1-hESC	embryonic stem cell:	n/a	chr1:45696412-45696425
28	CTCF	chr1:45696300-45696450	GM12865	blood:	n/a	chr1:45696412-45696425
29	CTCF	chr1:45696280-45696562	MCF-7	breast:	n/a	chr1:45696412-45696425
30	CTCF	chr1:45696277-45696553	HepG2	liver:	n/a	chr1:45696412-45696425
31	CTCF	chr1:45696320-45696470	GM12878	blood:	n/a	chr1:45696412-45696425
32	CTCF	chr1:45731080-45731230	HUVEC	blood vessel:	n/a	chr1:45731186-45731195
33	CTCF	chr1:45696340-45696490	GM12865	blood:	n/a	chr1:45696412-45696425
34	CTCF	chr1:45696300-45696450	GM12868	blood:	n/a	chr1:45696412-45696425
35	CTCF	chr1:45696360-45696510	HEK293	kidney:	n/a	chr1:45696412-45696425
36	CTCF	chr1:45696354-45696489	GM12891	blood:	n/a	chr1:45696412-45696425
37	CTCF	chr1:45696302-45696555	LNCaP	prostate:	n/a	chr1:45696412-45696425
38	CTCF	chr1:45696320-45696470	GM12870	blood:	n/a	chr1:45696412-45696425
39	CTCF	chr1:45696320-45696470	GM12874	blood:	n/a	chr1:45696412-45696425
40	CTCF	chr1:45696360-45696510	HBMEC	blood vessel:	n/a	chr1:45696412-45696425
41	CTCF	chr1:45696172-45696652	MCF-7	breast:	n/a	chr1:45696412-45696425
42	CTCF	chr1:45696425-45696438	Medullo	brain:	n/a	n/a
43	CTCF	chr1:45696282-45696557	GM12878	blood:	n/a	chr1:45696412-45696425
44	CTCF	chr1:45696380-45696530	HepG2	liver:	n/a	chr1:45696412-45696425
45	CTCF	chr1:45696314-45696518	GM12892	blood:	n/a	chr1:45696412-45696425
46	CTCF	chr1:45696300-45696450	HRE	kidney:	n/a	chr1:45696412-45696425
47	CTCF	chr1:45696317-45696510	HepG2	liver:	n/a	chr1:45696412-45696425
48	CTCF	chr1:45696309-45696534	MCF-7	breast:	n/a	chr1:45696412-45696425
49	CTCF	chr1:45696295-45696550	Hela-S3	cervix:	n/a	chr1:45696412-45696425
50	CTCF	chr1:45696288-45696502	T-47D	breast:	n/a	chr1:45696412-45696425

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:45713933-45713983	AG10803	skin:	n/a
2	chr1:45713933-45713983	HRPEpiC	eye:	n/a
3	chr1:45713933-45713983	K562	blood:	n/a
4	chr1:45713933-45713983	GM06990	blood:	n/a
5	chr1:45713933-45713983	AoSMC	blood vessel:	n/a
6	chr1:45713933-45713983	NT2-D1	testis:	n/a
7	chr1:45713933-45713983	Jurkat	blood:	n/a
8	chr1:45713933-45713983	LNCaP	prostate:	n/a
9	chr1:45713933-45713983	SK-N-SH	brain:	n/a
10	chr1:45713933-45713983	Hela-S3	cervix:	n/a
11	chr1:45713933-45713983	T-47D	breast:	n/a
12	chr1:45713933-45713983	PrEC	prostate:	n/a
13	chr1:45713933-45713983	HepG2	liver:	n/a
14	chr1:45713933-45713983	HEK293	kidney:	embryo
15	chr1:45713933-45713983	MCF-7	breast:	n/a
16	chr1:45713933-45713983	ProgFib	skin:	n/a
17	chr1:45713933-45713983	CMK	blood:	n/a
18	chr1:45713933-45713983	HL-60	blood:	n/a
19	chr1:45713933-45713983	NHBE	bronchial:	n/a
20	chr1:45713933-45713983	HCM	heart:	n/a
21	chr1:45713933-45713983	BE2_C	brain:	n/a
22	chr1:45713933-45713983	ovcar-3	ovarian:	n/a
23	chr1:45713933-45713983	HCT-116	colon:	n/a
24	chr1:45713933-45713983	HUVEC	blood vessel:	n/a
25	chr1:45713933-45713983	IMR90	lung:	fetal
26	chr1:45713933-45713983	HRE	kidney:	n/a
27	chr1:45713933-45713983	A549	lung:	n/a
28	chr1:45713933-45713983	U87	brain:	n/a
29	chr1:45713933-45713983	MCF10A-Er-Src	breast:	n/a
30	chr1:45713933-45713983	HNPCEpiC	eye:	n/a
31	chr1:45713933-45713983	BJ	skin:	n/a
32	chr1:45713933-45713983	HMEC	breast:	n/a
33	chr1:45713933-45713983	AG09309	skin:	n/a
34	chr1:45713933-45713983	RPTEC	kidney:	n/a
35	chr1:45713933-45713983	GM12892	blood:	n/a
36	chr1:45713933-45713983	PFSK-1	brain:	n/a
37	chr1:45713933-45713983	AG04450	lung:	fetal
38	chr1:45713933-45713983	PANC-1	pancreas:	n/a
39	chr1:45713933-45713983	HIPEpiC	eye:	n/a
40	chr1:45713933-45713983	HPAEpiC	pulmonary alveolar:	n/a
41	chr1:45713933-45713983	NB4	blood:	n/a
42	chr1:45713933-45713983	SK-N-SH_RA	brain:	n/a
43	chr1:45713933-45713983	NH-A	brain:	n/a
44	chr1:45713933-45713983	NHDF-neo	bronchial:	n/a
45	chr1:45713933-45713983	Caco-2	colon:	n/a
46	chr1:45713933-45713983	ECC-1	luminal epithelium:	n/a
47	chr1:45713933-45713983	AG04449	skin:	fetal
48	chr1:45713933-45713983	SK-N-MC	brain:	n/a
49	chr1:45713933-45713983	HEEpiC	esophagus:	n/a
50	chr1:45713933-45713983	GM12891	blood:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45683089..45683589-chr19:7514711..7515279,2	K562	blood:
2	chr1:45696772..45699429-chr1:45718922..45721450,2	K562	blood:
3	chr1:45713616..45716854-chr1:45720214..45722890,3	K562	blood:
4	chr1:45691956..45694717-chr1:45696399..45699805,3	K562	blood:
5	chr1:45622644..45625122-chr1:45685224..45687808,2	K562	blood:
6	chr1:45477032..45479742-chr1:45677347..45679240,2	MCF-7	breast:
7	chr1:45677297..45679517-chr1:45681226..45684124,2	K562	blood:
8	chr1:45675546..45677298-chr1:45678419..45680834,2	K562	blood:
9	chr1:45675546..45677298-chr1:45678419..45680834,2	K562	blood:
10	chr1:45730564..45732542-chr1:45986533..45988219,2	K562	blood:
11	chr1:45730369..45732064-chr1:45986217..45988033,2	K562	blood:
12	chr1:45670926..45673007-chr1:45675469..45678424,2	MCF-7	breast:
13	chr1:45722680..45725853-chr1:45727060..45729598,3	K562	blood:
14	chr1:45284070..45285582-chr1:45729873..45732531,2	K562	blood:
15	chr1:45705359..45708698-chr1:45708839..45712557,3	K562	blood:
16	chr1:45185994..45187906-chr1:45728961..45731095,3	K562	blood:
17	chr1:45705359..45708698-chr1:45708839..45712557,3	K562	blood:
18	chr1:45479922..45480771-chr1:45696379..45696880,2	MCF-7	breast:
19	chr1:45722680..45725853-chr1:45727060..45729598,3	K562	blood:
20	chr1:45240129..45242774-chr1:45724875..45726557,2	K562	blood:
21	chr1:45716599..45723837-chr1:45726714..45733883,8	K562	blood:
22	chr1:45724453..45726184-chr1:45728358..45730973,2	K562	blood:
23	chr1:45483202..45484788-chr1:45677331..45680052,2	K562	blood:
24	chr1:45713616..45716854-chr1:45720214..45722890,3	K562	blood:
25	chr1:45479671..45480962-chr1:45695974..45696913,3	MCF-7	breast:
26	chr1:45728448..45730333-chr1:45735366..45738285,2	MCF-7	breast:
27	chr1:45476441..45479268-chr1:45730943..45735268,3	K562	blood:
28	chr1:45484177..45484927-chr1:45695999..45696897,4	MCF-7	breast:
29	chr1:45483767..45484830-chr1:45695988..45696895,3	MCF-7	breast:
30	chr1:45732068..45734921-chr1:45735419..45738546,3	K562	blood:
31	chr1:45478837..45482888-chr1:45715083..45718053,3	K562	blood:
32	chr1:45687172..45689611-chr1:45803518..45806363,3	K562	blood:
33	chr1:45670741..45674164-chr1:45684331..45687085,3	MCF-7	breast:
34	chr1:45677297..45679517-chr1:45681226..45684124,2	K562	blood:
35	chr1:45724453..45726184-chr1:45728358..45730973,2	K562	blood:
36	chr1:45284053..45286681-chr1:45681962..45684729,2	K562	blood:
37	chr1:45717171..45719961-chr1:45727838..45729738,2	MCF-7	breast:
38	chr1:45186275..45187906-chr1:45728961..45730546,2	K562	blood:
39	chr1:45691563..45694717-chr1:45695097..45699805,4	K562	blood:
40	chr1:45670740..45673422-chr1:45677791..45680417,3	MCF-7	breast:
41	chr1:45731206..45733732-chr1:45740746..45742362,2	K562	blood:
42	chr1:45717171..45719961-chr1:45727838..45729738,2	MCF-7	breast:
43	chr1:45716599..45723837-chr1:45726714..45733883,8	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HPDL-1	chr1:45683510-45683543	XLOC_000167

No data

Variant related genes	Relation type
ENSG00000221707	TF binding region
ENSG00000221707	CpG island
ENSG00000264294	chromatin interactions
ENSG00000221707	chromatin interactions
ENSG00000126088	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000202444	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000162415	chromatin interactions
ENSG00000126107	chromatin interactions
ENSG00000117450	chromatin interactions
ENSG00000200913	chromatin interactions
ENSG00000132773	chromatin interactions
ENSG00000132781	chromatin interactions

Extended variants
information (count: 1436 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1436 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571255671	chr1:45677269-45677270	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs190920441	chr1:45677297-45677298	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376497075	chr1:45677325-45677326	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149062506	chr1:45677344-45677345	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536232079	chr1:45677355-45677356	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs559567182	chr1:45677357-45677358	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs556129063	chr1:45677405-45677406	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs113728740	chr1:45677407-45677408	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs544500350	chr1:45677431-45677432	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs183443755	chr1:45677507-45677508	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs578103787	chr1:45677553-45677554	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs540768001	chr1:45677575-45677576	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs80201496	chr1:45677636-45677637	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs77248208	chr1:45677639-45677640	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs397860457	chr1:45677640-45677641	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs368161045	chr1:45677649-45677650	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs560193184	chr1:45677690-45677691	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs529285169	chr1:45677712-45677713	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569461386	chr1:45677720-45677721	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs186631124	chr1:45677755-45677756	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs562466379	chr1:45677777-45677778	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs1938302	chr1:45677818-45677819	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs551294373	chr1:45677866-45677867	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs527836506	chr1:45677910-45677911	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs571457929	chr1:45677951-45677952	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs78051446	chr1:45677957-45677958	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs72686404	chr1:45677960-45677961	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547495387	chr1:45677969-45677970	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs77615261	chr1:45677977-45677978	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs536268344	chr1:45677979-45677980	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs74072204	chr1:45677982-45677983	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569581701	chr1:45677985-45677986	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs538572271	chr1:45677998-45677999	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs558165163	chr1:45678014-45678015	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs578145517	chr1:45678017-45678018	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs576381119	chr1:45678087-45678088	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs540457582	chr1:45678094-45678095	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs1938303	chr1:45678125-45678126	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs558814944	chr1:45678185-45678186	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs368346150	chr1:45678203-45678204	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs573771083	chr1:45678209-45678210	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs542616999	chr1:45678263-45678264	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs116885920	chr1:45678272-45678273	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs576346368	chr1:45678325-45678326	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs7522177	chr1:45678395-45678396	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs561358186	chr1:45678456-45678457	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs565008887	chr1:45678460-45678461	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs61789780	chr1:45678474-45678475	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs547240217	chr1:45678499-45678500	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs148246266	chr1:45678529-45678530	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45673800-45678000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:45676200-45677400	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr1:45677200-45677400	Active TSS	Duodenum Mucosa	Duodenum
4	chr1:45678000-45678600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:45678600-45678800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:45678600-45679800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:45678800-45690800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:45679800-45680800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:45680800-45681800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:45681200-45681600	Enhancers	GM12878-XiMat	blood
11	chr1:45681600-45682000	Enhancers	HMEC	breast
12	chr1:45681600-45682000	Enhancers	NHEK	skin
13	chr1:45681800-45682400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:45681800-45683000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:45682400-45682600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:45683000-45683400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:45683200-45683600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:45685200-45685800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:45686800-45688200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:45687000-45687800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:45688400-45688600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:45695000-45695200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:45695200-45697400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:45697400-45697800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:45697600-45698000	Enhancers	Osteobl	bone
26	chr1:45701800-45702400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:45704400-45705000	Enhancers	Hela-S3	cervix
28	chr1:45709000-45709200	Enhancers	Osteobl	bone
29	chr1:45709200-45709400	Enhancers	NHDF-Ad	bronchial
30	chr1:45709200-45709800	Weak transcription	Osteobl	bone
31	chr1:45709200-45710200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:45709200-45710200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:45709400-45711800	Weak transcription	NHDF-Ad	bronchial
34	chr1:45709800-45710000	Enhancers	Osteobl	bone
35	chr1:45710000-45711600	Weak transcription	Osteobl	bone
36	chr1:45710200-45711600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:45710200-45712000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:45711600-45712200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:45711600-45712400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:45711600-45713000	Enhancers	Osteobl	bone
41	chr1:45711600-45713400	Enhancers	HUVEC	blood vessel
42	chr1:45711600-45713600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:45711800-45713000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr1:45711800-45713000	Enhancers	Hela-S3	cervix
45	chr1:45711800-45713000	Enhancers	HepG2	liver
46	chr1:45711800-45713000	Enhancers	NHDF-Ad	bronchial
47	chr1:45712000-45712800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:45712000-45713000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:45712200-45712600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr1:45712200-45713000	Enhancers	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links