Variant report

Variant	nsv1017610
Chromosome Location	chr7:147523752-147806427
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	chr7:147719716-147719749	K562	blood:	n/a	n/a
2	ATF1	chr7:147528563-147528613	K562	blood:	n/a	n/a
3	ATF1	chr7:147573807-147573905	K562	blood:	n/a	n/a
4	ATF2	chr7:147717734-147718108	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr7:147717723-147718207	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr7:147746141-147746615	GM12878	blood:	n/a	n/a
7	ATF2	chr7:147757791-147758204	GM12878	blood:	n/a	n/a
8	BACH1	chr7:147707923-147708024	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr7:147606802-147607192	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr7:147746259-147746448	GM12878	blood:	n/a	chr7:147746394-147746404
11	BATF	chr7:147678607-147678799	GM12878	blood:	n/a	n/a
12	BATF	chr7:147746229-147746439	GM12878	blood:	n/a	chr7:147746394-147746404
13	BCL11A	chr7:147717705-147718100	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL11A	chr7:147717776-147718087	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL11A	chr7:147723852-147724067	GM12878	blood:	n/a	n/a
16	BRCA1	chr7:147781173-147781436	H1-hESC	embryonic stem cell:	n/a	n/a
17	BRCA1	chr7:147781223-147781423	Hela-S3	cervix:	n/a	n/a
18	CCNT2	chr7:147770222-147770402	K562	blood:	n/a	n/a
19	CEBPB	chr7:147790953-147791203	HepG2	liver:	n/a	chr7:147791040-147791051
20	CEBPB	chr7:147593185-147593356	HepG2	liver:	n/a	chr7:147593312-147593323
21	CEBPB	chr7:147790870-147791199	H1-hESC	embryonic stem cell:	n/a	chr7:147791040-147791051
22	CEBPB	chr7:147748341-147748561	A549	lung:	n/a	chr7:147748472-147748483 chr7:147748471-147748484 chr7:147748471-147748482 chr7:147748471-147748484 chr7:147748471-147748482 chr7:147748471-147748484
23	CEBPB	chr7:147678632-147678816	HepG2	liver:	n/a	chr7:147678730-147678741
24	CEBPB	chr7:147790875-147791200	A549	lung:	n/a	chr7:147791040-147791051
25	CEBPB	chr7:147754022-147754191	A549	lung:	n/a	n/a
26	CEBPB	chr7:147742701-147743069	MCF-7	breast:	n/a	chr7:147742848-147742857 chr7:147742848-147742859
27	CEBPB	chr7:147555793-147555840	HepG2	liver:	n/a	n/a
28	CEBPB	chr7:147678668-147678797	A549	lung:	n/a	chr7:147678730-147678741
29	CEBPB	chr7:147608001-147608491	H1-hESC	embryonic stem cell:	n/a	chr7:147608120-147608131
30	CEBPB	chr7:147742710-147742915	HepG2	liver:	n/a	chr7:147742848-147742857 chr7:147742848-147742859
31	CEBPB	chr7:147576494-147576783	IMR90	lung:	n/a	chr7:147576642-147576653 chr7:147576642-147576655 chr7:147576644-147576653 chr7:147576643-147576654
32	CEBPB	chr7:147583840-147584110	HepG2	liver:	n/a	n/a
33	CEBPB	chr7:147790979-147791198	K562	blood:	n/a	chr7:147791040-147791051
34	CEBPB	chr7:147576473-147576808	HepG2	liver:	n/a	chr7:147576642-147576653 chr7:147576642-147576655 chr7:147576644-147576653 chr7:147576643-147576654
35	CEBPB	chr7:147672991-147673149	A549	lung:	n/a	n/a
36	CEBPB	chr7:147672830-147673118	HepG2	liver:	n/a	n/a
37	CEBPB	chr7:147576540-147576763	A549	lung:	n/a	chr7:147576642-147576653 chr7:147576642-147576655 chr7:147576644-147576653 chr7:147576643-147576654
38	CEBPB	chr7:147571771-147571933	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr7:147805777-147805943	IMR90	lung:	n/a	chr7:147805894-147805905
40	CEBPB	chr7:147657557-147657797	A549	lung:	n/a	chr7:147657633-147657644 chr7:147657677-147657686 chr7:147657633-147657642
41	CEBPB	chr7:147658605-147658778	A549	lung:	n/a	n/a
42	CEBPB	chr7:147717109-147717387	H1-hESC	embryonic stem cell:	n/a	chr7:147717219-147717232
43	CEBPB	chr7:147668457-147668758	IMR90	lung:	n/a	n/a
44	CEBPB	chr7:147790866-147791226	IMR90	lung:	n/a	chr7:147791040-147791051
45	CEBPB	chr7:147608017-147608300	A549	lung:	n/a	chr7:147608120-147608131
46	CEBPB	chr7:147748366-147748621	K562	blood:	n/a	chr7:147748472-147748483 chr7:147748471-147748484 chr7:147748471-147748482 chr7:147748471-147748484 chr7:147748471-147748482 chr7:147748471-147748484
47	CEBPB	chr7:147748309-147748523	HepG2	liver:	n/a	chr7:147748472-147748483 chr7:147748471-147748484 chr7:147748471-147748482 chr7:147748471-147748484 chr7:147748471-147748482 chr7:147748471-147748484
48	CEBPB	chr7:147607993-147608290	HepG2	liver:	n/a	chr7:147608120-147608131
49	CEBPB	chr7:147552672-147552872	HepG2	liver:	n/a	chr7:147552735-147552746 chr7:147552796-147552807
50	CEBPB	chr7:147748295-147748672	Hela-S3	cervix:	n/a	chr7:147748472-147748483 chr7:147748471-147748484 chr7:147748471-147748482 chr7:147748471-147748484 chr7:147748471-147748482 chr7:147748471-147748484

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:147732939-147732989	HL-60	blood:	n/a
2	chr7:147732939-147732989	HL-60	blood:	n/a
3	chr7:147591551-147591601	HepG2	liver:	n/a
4	chr7:147601429-147601479	HPAEpiC	pulmonary alveolar:	n/a
5	chr7:147591462-147591512	NHBE	bronchial:	n/a
6	chr7:147591551-147591601	HCT-116	colon:	n/a
7	chr7:147591462-147591512	NB4	blood:	n/a
8	chr7:147591551-147591601	GM12892	blood:	n/a
9	chr7:147601429-147601479	PrEC	prostate:	n/a
10	chr7:147732939-147732989	HepG2	liver:	n/a
11	chr7:147718109-147718159	PANC-1	pancreas:	n/a
12	chr7:147682984-147683034	HCT-116	colon:	n/a
13	chr7:147591462-147591512	LNCaP	prostate:	n/a
14	chr7:147682984-147683034	BE2_C	brain:	n/a
15	chr7:147591551-147591601	PrEC	prostate:	n/a
16	chr7:147804524-147804574	GM12891	blood:	n/a
17	chr7:147591462-147591512	PFSK-1	brain:	n/a
18	chr7:147591462-147591512	SK-N-SH_RA	brain:	n/a
19	chr7:147727995-147728045	NB4	blood:	n/a
20	chr7:147727995-147728045	HEK293	kidney:	embryo
21	chr7:147682984-147683034	U87	brain:	n/a
22	chr7:147727995-147728045	MCF10A-Er-Src	breast:	n/a
23	chr7:147591961-147592011	MCF10A-Er-Src	breast:	n/a
24	chr7:147804524-147804574	HRPEpiC	eye:	n/a
25	chr7:147709862-147709912	HUVEC	blood vessel:	n/a
26	chr7:147718109-147718159	U87	brain:	n/a
27	chr7:147727995-147728045	IMR90	lung:	fetal
28	chr7:147591961-147592011	HUVEC	blood vessel:	n/a
29	chr7:147591897-147591947	ECC-1	luminal epithelium:	n/a
30	chr7:147804524-147804574	HIPEpiC	eye:	n/a
31	chr7:147591551-147591601	HUVEC	blood vessel:	n/a
32	chr7:147727995-147728045	NH-A	brain:	n/a
33	chr7:147601429-147601479	HEEpiC	esophagus:	n/a
34	chr7:147591462-147591512	SK-N-MC	brain:	n/a
35	chr7:147727995-147728045	MCF-7	breast:	n/a
36	chr7:147804524-147804574	HEK293	kidney:	embryo
37	chr7:147727995-147728045	HCPEpiC	choroid plexus:	n/a
38	chr7:147804524-147804574	HL-60	blood:	n/a
39	chr7:147709862-147709912	AG04450	lung:	fetal
40	chr7:147591462-147591512	HMEC	breast:	n/a
41	chr7:147591551-147591601	ovcar-3	ovarian:	n/a
42	chr7:147732939-147732989	AG04450	lung:	fetal
43	chr7:147591551-147591601	HNPCEpiC	eye:	n/a
44	chr7:147591897-147591947	HCM	heart:	n/a
45	chr7:147591961-147592011	SK-N-SH_RA	brain:	n/a
46	chr7:147804524-147804574	BJ	skin:	n/a
47	chr7:147804524-147804574	GM19239	blood:	n/a
48	chr7:147732939-147732989	HCT-116	colon:	n/a
49	chr7:147718109-147718159	K562	blood:	n/a
50	chr7:147591551-147591601	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:147545107..147547622-chr7:147549641..147552092,2	K562	blood:
2	chr7:147652480..147654051-chr7:147655733..147657360,2	K562	blood:
3	chr7:147128910..147129532-chr7:147781183..147781749,2	MCF-7	breast:
4	chr7:146947046..146947712-chr7:147780872..147781389,2	MCF-7	breast:
5	chr7:147781106..147781743-chr7:147939284..147939995,2	MCF-7	breast:
6	chr7:147672050..147673576-chr7:147678851..147681091,2	K562	blood:
7	chr7:147244064..147244645-chr7:147780823..147781941,3	MCF-7	breast:
8	chr11:39750814..39753511-chr7:147523706..147526586,2	MCF-7	breast:
9	chr7:147634284..147636297-chr7:147811524..147814125,2	K562	blood:
10	chr7:147793900..147797120-chr7:147797974..147800235,3	K562	blood:
11	chr17:57913327..57915370-chr7:147799081..147801913,2	MCF-7	breast:
12	chr7:147790363..147792241-chr7:147792369..147794936,2	K562	blood:
13	chr7:147790363..147792241-chr7:147792369..147794936,2	K562	blood:
14	chr2:128145054..128145802-chr7:147622362..147622863,2	NB4	blood:
15	chr7:147672050..147673576-chr7:147678851..147681091,2	K562	blood:
16	chr7:147652480..147654051-chr7:147655733..147657360,2	K562	blood:
17	chr7:147734255..147736925-chr7:147737815..147740650,2	K562	blood:
18	chr7:146942052..146943007-chr7:147780653..147781865,8	MCF-7	breast:
19	chr7:146433750..146434499-chr7:147781098..147781819,2	MCF-7	breast:
20	chr7:147680486..147683075-chr7:147685305..147687818,2	MCF-7	breast:
21	chr7:147719801..147721661-chr7:147724450..147725973,2	K562	blood:
22	chr7:147244064..147245042-chr7:147780811..147781840,6	MCF-7	breast:
23	chr7:147719801..147721661-chr7:147724450..147725973,2	K562	blood:
24	chr7:147680486..147683075-chr7:147685305..147687818,2	MCF-7	breast:
25	chr7:147793900..147797120-chr7:147797974..147800235,3	K562	blood:
26	chr7:147734255..147736925-chr7:147737815..147740650,2	K562	blood:
27	chr7:147528510..147529067-chr7:147780981..147781783,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf33-6	chr7:147637096-147637393	NONHSAT123964

Variant related genes	Relation type
RN7SL456P	TF binding region
RNA5SP249	TF binding region
RNU6-1184P	TF binding region
RN7SL456P	CpG island
RNA5SP249	CpG island
RNU6-1184P	CpG island
ENSG00000169967	chromatin interactions
ENSG00000264020	chromatin interactions
ENSG00000251936	chromatin interactions
ENSG00000207318	chromatin interactions
ENSG00000062716	chromatin interactions

Extended variants
information (count: 6938 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:6938 , 50 per page) page: 1 2 3 4 5 6 7 ... 139

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372695643	chr7:147523782-147523783	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543520891	chr7:147523795-147523796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563726336	chr7:147523796-147523797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548344447	chr7:147523803-147523804	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34472591	chr7:147523822-147523823	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181625603	chr7:147523842-147523843	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549297905	chr7:147523885-147523886	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs117128938	chr7:147523909-147523910	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186596049	chr7:147523934-147523935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145906353	chr7:147523964-147523965	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs551953076	chr7:147523970-147523971	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs34322489	chr7:147524021-147524022	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs397891054	chr7:147524040-147524041	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191503316	chr7:147524045-147524046	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368210173	chr7:147524059-147524060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs183111236	chr7:147524087-147524088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs77603389	chr7:147524154-147524155	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569664543	chr7:147524155-147524156	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs116925432	chr7:147524161-147524162	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537047129	chr7:147524215-147524216	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs138709675	chr7:147524221-147524222	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs534877388	chr7:147524246-147524247	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs558848274	chr7:147524284-147524285	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs117273913	chr7:147524289-147524290	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs553148670	chr7:147524324-147524325	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574472868	chr7:147524340-147524341	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs186437070	chr7:147524393-147524394	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs557071418	chr7:147524414-147524415	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs372342269	chr7:147524435-147524436	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs17825248	chr7:147524455-147524456	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs573736746	chr7:147524459-147524460	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs142715912	chr7:147524472-147524473	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs559275424	chr7:147524485-147524486	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs199941464	chr7:147524503-147524504	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189865617	chr7:147524538-147524539	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs546437998	chr7:147524545-147524546	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs1468729	chr7:147524550-147524551	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs10246029	chr7:147524566-147524567	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs369953628	chr7:147524579-147524580	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs549889547	chr7:147524608-147524609	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs17170688	chr7:147524635-147524636	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs182184873	chr7:147524645-147524646	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs74561039	chr7:147524678-147524679	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs75033401	chr7:147524679-147524680	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs549011019	chr7:147524696-147524697	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs565646971	chr7:147524716-147524717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs146934523	chr7:147524746-147524747	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs112440647	chr7:147524789-147524790	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs10261473	chr7:147524835-147524836	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536842549	chr7:147524893-147524894	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147526200-147526600	Enhancers	Fetal Brain Male	brain
2	chr7:147530400-147530600	Enhancers	Brain Anterior Caudate	brain
3	chr7:147530400-147530600	Enhancers	Brain Substantia Nigra	brain
4	chr7:147530400-147530800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:147530400-147530800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:147530400-147530800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:147530400-147530800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:147530400-147531200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr7:147530400-147531800	Enhancers	Brain Angular Gyrus	brain
10	chr7:147530600-147530800	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr7:147530600-147530800	Flanking Active TSS	Brain Substantia Nigra	brain
12	chr7:147530600-147531000	Enhancers	Brain Hippocampus Middle	brain
13	chr7:147530600-147531200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:147530600-147531600	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:147530800-147531000	Active TSS	Brain Substantia Nigra	brain
16	chr7:147530800-147531200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:147530800-147531400	Active TSS	Brain Anterior Caudate	brain
18	chr7:147531000-147531200	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr7:147531000-147531400	Enhancers	Fetal Brain Female	brain
20	chr7:147531200-147531600	Enhancers	Brain Hippocampus Middle	brain
21	chr7:147531200-147531800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:147531400-147531800	Enhancers	Brain Anterior Caudate	brain
23	chr7:147536800-147541000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr7:147537000-147540800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:147537800-147538200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:147538200-147538400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:147538400-147538800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:147538800-147546000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:147544600-147544800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr7:147544800-147545000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr7:147546000-147546600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:147550400-147551200	Enhancers	Adipose Nuclei	Adipose
33	chr7:147555200-147555600	Enhancers	Fetal Muscle Trunk	muscle
34	chr7:147555600-147555800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:147555800-147556200	Enhancers	Fetal Muscle Leg	muscle
36	chr7:147555800-147556800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:147556000-147556200	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:147556200-147556400	Enhancers	Brain Hippocampus Middle	brain
39	chr7:147556200-147556400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr7:147556200-147557000	Enhancers	Osteobl	bone
41	chr7:147556600-147556800	Enhancers	Brain Substantia Nigra	brain
42	chr7:147556800-147557000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:147556800-147558200	Weak transcription	Brain Substantia Nigra	brain
44	chr7:147557000-147557800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:147557000-147558000	Weak transcription	Osteobl	bone
46	chr7:147557800-147558800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:147558000-147558200	Enhancers	Fetal Brain Male	brain
48	chr7:147558000-147558400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:147558000-147558600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:147558000-147558600	Enhancers	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links