Variant report

Variant	nsv1006715
Chromosome Location	chr1:104066865-104158297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:104068398-104069159	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:104104781-104104969	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:104076441-104076543	K562	blood:	n/a	n/a
4	ARID3A	chr1:104068425-104069462	K562	blood:	n/a	n/a
5	ARID3A	chr1:104103048-104103509	HepG2	liver:	n/a	n/a
6	ATF2	chr1:104104531-104104991	GM12878	blood:	n/a	n/a
7	ATF2	chr1:104068276-104068823	GM12878	blood:	n/a	n/a
8	ATF2	chr1:104068246-104068748	GM12878	blood:	n/a	n/a
9	BATF	chr1:104069996-104070255	GM12878	blood:	n/a	chr1:104070131-104070142
10	BATF	chr1:104069989-104070340	GM12878	blood:	n/a	chr1:104070131-104070142
11	BATF	chr1:104068947-104069203	GM12878	blood:	n/a	n/a
12	BCL3	chr1:104081714-104081999	GM12878	blood:	n/a	n/a
13	BCLAF1	chr1:104068286-104068884	GM12878	blood:	n/a	n/a
14	BCLAF1	chr1:104104511-104104987	GM12878	blood:	n/a	n/a
15	BHLHE40	chr1:104104614-104104992	GM12878	blood:	n/a	n/a
16	BHLHE40	chr1:104069904-104070362	GM12878	blood:	n/a	n/a
17	BHLHE40	chr1:104068347-104069164	GM12878	blood:	n/a	n/a
18	BHLHE40	chr1:104067893-104069179	K562	blood:	n/a	n/a
19	BRCA1	chr1:104068338-104068741	HepG2	liver:	n/a	chr1:104068541-104068550
20	BRCA1	chr1:104068332-104068755	H1-hESC	embryonic stem cell:	n/a	chr1:104068541-104068550
21	BRCA1	chr1:104068347-104068826	GM12878	blood:	n/a	chr1:104068541-104068550
22	BRCA1	chr1:104068257-104069233	Hela-S3	cervix:	n/a	chr1:104068541-104068550
23	CBX3	chr1:104068298-104068668	K562	blood:	n/a	n/a
24	CBX3	chr1:104068335-104068703	K562	blood:	n/a	n/a
25	CCNT2	chr1:104068442-104069153	K562	blood:	n/a	n/a
26	CEBPB	chr1:104109287-104109643	HepG2	liver:	n/a	chr1:104109438-104109451 chr1:104109440-104109449 chr1:104109438-104109451 chr1:104109515-104109526 chr1:104109440-104109449 chr1:104109438-104109449 chr1:104109440-104109451 chr1:104109440-104109451 chr1:104109440-104109449 chr1:104109438-104109451 chr1:104109440-104109449
27	CEBPB	chr1:104067855-104068146	K562	blood:	n/a	n/a
28	CEBPB	chr1:104069315-104069645	K562	blood:	n/a	chr1:104069437-104069448
29	CEBPB	chr1:104071591-104071848	IMR90	lung:	n/a	chr1:104071695-104071706
30	CEBPB	chr1:104109284-104109624	IMR90	lung:	n/a	chr1:104109438-104109451 chr1:104109440-104109449 chr1:104109438-104109451 chr1:104109515-104109526 chr1:104109440-104109449 chr1:104109438-104109449 chr1:104109440-104109451 chr1:104109440-104109451 chr1:104109440-104109449 chr1:104109438-104109451 chr1:104109440-104109449
31	CEBPB	chr1:104098729-104098994	HepG2	liver:	n/a	n/a
32	CEBPB	chr1:104117700-104117982	IMR90	lung:	n/a	chr1:104117799-104117810
33	CEBPB	chr1:104120615-104120913	IMR90	lung:	n/a	chr1:104120781-104120792 chr1:104120780-104120791 chr1:104120780-104120793
34	CEBPB	chr1:104104635-104104975	HepG2	liver:	n/a	chr1:104104711-104104723
35	CEBPB	chr1:104120646-104120872	A549	lung:	n/a	chr1:104120781-104120792 chr1:104120780-104120791 chr1:104120780-104120793
36	CEBPB	chr1:104071533-104071833	HepG2	liver:	n/a	chr1:104071695-104071706
37	CEBPB	chr1:104120629-104120899	HepG2	liver:	n/a	chr1:104120781-104120792 chr1:104120780-104120791 chr1:104120780-104120793
38	CEBPB	chr1:104117717-104117917	HepG2	liver:	n/a	chr1:104117799-104117810
39	CEBPB	chr1:104103108-104103415	HepG2	liver:	n/a	n/a
40	CEBPB	chr1:104104662-104104945	Hela-S3	cervix:	n/a	chr1:104104711-104104723
41	CEBPB	chr1:104128801-104129380	HepG2	liver:	n/a	chr1:104128959-104128968 chr1:104128959-104128968 chr1:104128959-104128968 chr1:104128957-104128970
42	CEBPB	chr1:104074143-104074222	HepG2	liver:	n/a	chr1:104074178-104074189
43	CEBPB	chr1:104109313-104109613	A549	lung:	n/a	chr1:104109438-104109451 chr1:104109440-104109449 chr1:104109438-104109451 chr1:104109515-104109526 chr1:104109440-104109449 chr1:104109438-104109449 chr1:104109440-104109451 chr1:104109440-104109451 chr1:104109440-104109449 chr1:104109438-104109451 chr1:104109440-104109449
44	CHD1	chr1:104068953-104069176	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD1	chr1:104068464-104069301	GM12878	blood:	n/a	chr1:104068541-104068550
46	CHD1	chr1:104069816-104070434	GM12878	blood:	n/a	n/a
47	CHD2	chr1:104068225-104069285	GM12878	blood:	n/a	chr1:104068541-104068550
48	CHD2	chr1:104068272-104068999	HepG2	liver:	n/a	chr1:104068541-104068550
49	CHD2	chr1:104072659-104072667	GM12878	blood:	n/a	n/a
50	CHD2	chr1:104068290-104068970	H1-hESC	embryonic stem cell:	n/a	chr1:104068541-104068550

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:104096517-104096567	Hepatocyte	liver:	n/a
2	chr1:104096621-104096671	H1-hESC	embryonic stem cell:	embryo
3	chr1:104068419-104068469	HEEpiC	esophagus:	n/a
4	chr1:104068935-104068985	MCF-7	breast:	n/a
5	chr1:104068121-104068171	ECC-1	luminal epithelium:	n/a
6	chr1:104068312-104068362	ECC-1	luminal epithelium:	n/a
7	chr1:104112143-104112193	BE2_C	brain:	n/a
8	chr1:104113039-104113089	HCT-116	colon:	n/a
9	chr1:104068603-104068653	PANC-1	pancreas:	n/a
10	chr1:104068488-104068538	MCF10A-Er-Src	breast:	n/a
11	chr1:104068664-104068714	AG04450	lung:	fetal
12	chr1:104068419-104068469	SAEC	small airway:	n/a
13	chr1:104097670-104097720	PrEC	prostate:	n/a
14	chr1:104068301-104068351	SK-N-SH	brain:	n/a
15	chr1:104097670-104097720	AG09319	gingival:	n/a
16	chr1:104096517-104096567	HAEpiC	amniotic membrane:	n/a
17	chr1:104097670-104097720	HepG2	liver:	n/a
18	chr1:104096517-104096567	HCT-116	colon:	n/a
19	chr1:104068603-104068653	PrEC	prostate:	n/a
20	chr1:104097670-104097720	MCF-7	breast:	n/a
21	chr1:104068121-104068171	HAEpiC	amniotic membrane:	n/a
22	chr1:104068118-104068168	NT2-D1	testis:	n/a
23	chr1:104097670-104097720	RPTEC	kidney:	n/a
24	chr1:104068935-104068985	NT2-D1	testis:	n/a
25	chr1:104096517-104096567	AoSMC	blood vessel:	n/a
26	chr1:104068704-104068754	PFSK-1	brain:	n/a
27	chr1:104068664-104068714	SKMC	muscle:	n/a
28	chr1:104068301-104068351	GM19239	blood:	n/a
29	chr1:104113039-104113089	HRPEpiC	eye:	n/a
30	chr1:104068567-104068617	MCF10A-Er-Src	breast:	n/a
31	chr1:104068935-104068985	HPAEpiC	pulmonary alveolar:	n/a
32	chr1:104068121-104068171	MCF-7	breast:	n/a
33	chr1:104096517-104096567	PANC-1	pancreas:	n/a
34	chr1:104068118-104068168	ECC-1	luminal epithelium:	n/a
35	chr1:104068488-104068538	ovcar-3	ovarian:	n/a
36	chr1:104068312-104068362	HPAEpiC	pulmonary alveolar:	n/a
37	chr1:104068490-104068540	HCT-116	colon:	n/a
38	chr1:104111877-104111927	NHBE	bronchial:	n/a
39	chr1:104112143-104112193	HepG2	liver:	n/a
40	chr1:104111877-104111927	HUVEC	blood vessel:	n/a
41	chr1:104068312-104068362	AG04450	lung:	fetal
42	chr1:104097670-104097720	IMR90	lung:	fetal
43	chr1:104096517-104096567	HUVEC	blood vessel:	n/a
44	chr1:104068301-104068351	H1-hESC	embryonic stem cell:	embryo
45	chr1:104113039-104113089	BJ	skin:	n/a
46	chr1:104068488-104068538	HRPEpiC	eye:	n/a
47	chr1:104068490-104068540	MCF10A-Er-Src	breast:	n/a
48	chr1:104111877-104111927	HEEpiC	esophagus:	n/a
49	chr1:104097670-104097720	HRCEpiC	kidney:	n/a
50	chr1:104068419-104068469	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:104067350..104070075-chr1:104070516..104073483,5	K562	blood:
2	chr1:104084688..104087612-chr1:104092885..104095420,2	K562	blood:
3	chr1:104067752..104069863-chr1:104085885..104087467,2	MCF-7	breast:
4	chr1:104120354..104123298-chr1:104128850..104131166,2	K562	blood:
5	chr1:104067221..104069850-chr1:104074751..104077723,3	MCF-7	breast:
6	chr1:104120354..104123298-chr1:104128850..104131166,2	K562	blood:
7	chr1:104067350..104071361-chr1:104071688..104074634,4	K562	blood:
8	chr1:104087556..104090106-chr1:104096002..104097509,2	K562	blood:
9	chr1:104068563..104070409-chr1:104091369..104094625,4	MCF-7	breast:
10	chr1:104087556..104090106-chr1:104096002..104097509,2	K562	blood:
11	chr1:104075755..104077597-chr1:104090154..104091919,2	K562	blood:
12	chr1:104075755..104077597-chr1:104090154..104091919,2	K562	blood:
13	chr1:104068373..104071907-chr1:104081557..104086760,7	K562	blood:
14	chr1:104067956..104068800-chr18:9474823..9475445,2	Hela-S3	cervix:
15	chr1:104068373..104071907-chr1:104081557..104086760,7	K562	blood:
16	chr1:104068563..104070409-chr1:104091369..104094625,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMY1B-1	chr1:104068018-104068105	XLOC_000945
2	lnc-AMY1B-1	chr1:104068018-104068139	XLOC_000945
3	lnc-AMY1B-1	chr1:104068018-104068083	ENSG00000224613.2
4	lnc-AMY1B-1	chr1:104068018-104068139	XLOC_000945
5	lnc-AMY1B-1	chr1:104068018-104068139	XLOC_000945
6	lnc-AMY1B-1	chr1:104068018-104068115	XLOC_000945

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RNPC3	hsa-miR-192-5p	chr1:104096163-104096184

Variant related genes	Relation type
ACTG1P4	TF binding region
ENSG00000224613	TF binding region
RNPC3	TF binding region
AMY2A	TF binding region
AMY2B	TF binding region
ACTG1P4	CpG island
ENSG00000224613	CpG island
RNPC3	CpG island
AMY2A	CpG island
AMY2B	CpG island
ENSG00000240038	chromatin interactions
ENSG00000017797	chromatin interactions
ENSG00000185946	chromatin interactions
ENSG00000224613	chromatin interactions
TOMM34	miRNA target sites

Extended variants
information (count: 2473 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:2473 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142814924	chr1:104066898-104066899	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs531069506	chr1:104066931-104066932	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs549654312	chr1:104066951-104066952	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs147394836	chr1:104066957-104066958	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs528652855	chr1:104066963-104066964	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112737181	chr1:104066969-104066970	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs7529144	chr1:104067000-104067001	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539143165	chr1:104067076-104067077	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs550664030	chr1:104067085-104067086	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs199897711	chr1:104067098-104067099	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs371231260	chr1:104067107-104067108	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs569245367	chr1:104067122-104067123	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs536903681	chr1:104067123-104067124	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs148060455	chr1:104067136-104067137	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs189674432	chr1:104067171-104067172	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs574024680	chr1:104067238-104067239	Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs534795252	chr1:104067246-104067247	Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs553232730	chr1:104067321-104067322	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7538379	chr1:104067356-104067357	Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575987483	chr1:104067374-104067375	Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs115681068	chr1:104067387-104067388	Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs182353164	chr1:104067398-104067399	Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs150519907	chr1:104067425-104067426	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs561950172	chr1:104067444-104067445	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs575173414	chr1:104067455-104067456	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs542298635	chr1:104067500-104067501	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs187679635	chr1:104067542-104067543	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs528784899	chr1:104067564-104067565	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs547589598	chr1:104067582-104067583	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs546759891	chr1:104067595-104067596	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs192633388	chr1:104067600-104067601	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs532461147	chr1:104067604-104067605	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs551058807	chr1:104067606-104067607	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs28558115	chr1:104067608-104067609	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs538656276	chr1:104067722-104067723	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs200968943	chr1:104067737-104067738	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs368947863	chr1:104067738-104067739	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs202090325	chr1:104067739-104067740	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs201687120	chr1:104067750-104067751	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs542601987	chr1:104067758-104067759	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs533017819	chr1:104067767-104067768	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs536643962	chr1:104067789-104067790	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs116635881	chr1:104067864-104067865	Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs370747438	chr1:104067865-104067866	Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs76324549	chr1:104067877-104067878	Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs185133672	chr1:104067891-104067892	Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs571421240	chr1:104067917-104067918	Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs538502990	chr1:104067964-104067965	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs78290040	chr1:104068029-104068030	Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs557008491	chr1:104068038-104068039	Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	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
Papillary thyroid carcinoma	21436994	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
Breast cancer	17603634	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
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Schizophrenia	20967226	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1503 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104043200-104067400	Weak transcription	Aorta	Aorta
2	chr1:104050000-104067400	Weak transcription	Left Ventricle	heart
3	chr1:104059800-104067400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:104059800-104067400	Weak transcription	Osteobl	bone
5	chr1:104060400-104067400	Weak transcription	Fetal Heart	heart
6	chr1:104060600-104067200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:104060600-104067400	Weak transcription	HUVEC	blood vessel
8	chr1:104061000-104067400	Weak transcription	GM12878-XiMat	blood
9	chr1:104062400-104067400	Weak transcription	Right Ventricle	heart
10	chr1:104064200-104067200	Weak transcription	Hela-S3	cervix
11	chr1:104064800-104067400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:104065000-104067400	Weak transcription	Pancreas	Pancrea
13	chr1:104065200-104067800	Enhancers	Fetal Intestine Large	intestine
14	chr1:104065800-104067800	Weak transcription	Fetal Stomach	stomach
15	chr1:104066200-104067400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:104066400-104067200	Weak transcription	Fetal Intestine Small	intestine
17	chr1:104066400-104067400	Active TSS	Psoas Muscle	Psoas
18	chr1:104066400-104067400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:104066600-104067000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:104066600-104067600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:104066800-104067400	Enhancers	Dnd41	blood
22	chr1:104066800-104067400	Enhancers	K562	blood
23	chr1:104067000-104067400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:104067000-104067400	Enhancers	HepG2	liver
25	chr1:104067000-104067400	Enhancers	NHEK	skin
26	chr1:104067000-104067600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:104067200-104067400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:104067200-104067400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:104067200-104067400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:104067200-104067400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr1:104067200-104067400	Enhancers	Hela-S3	cervix
32	chr1:104067200-104067400	Enhancers	HMEC	breast
33	chr1:104067200-104067600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:104067200-104067800	Enhancers	Fetal Intestine Small	intestine
35	chr1:104067200-104067800	Enhancers	Placenta	Placenta
36	chr1:104067200-104071400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:104067400-104067600	Enhancers	H9 Cell Line	embryonic stem cell
38	chr1:104067400-104067600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:104067400-104067600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:104067400-104067600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr1:104067400-104067600	Enhancers	Primary B cells from peripheral blood	blood
42	chr1:104067400-104067600	Enhancers	Primary T cells from cord blood	blood
43	chr1:104067400-104067600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:104067400-104067600	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr1:104067400-104067600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:104067400-104067600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr1:104067400-104067600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr1:104067400-104067600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:104067400-104067600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:104067400-104067600	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links