Variant report

Variant	nsv608335
Chromosome Location	chr7:121749963-121779485
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	ATF1	chr7:121768589-121768594	K562	blood:	n/a	n/a
2	ATF2	chr7:121759596-121760262	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr7:121758615-121759301	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr7:121758296-121758564	GM12878	blood:	n/a	n/a
5	BRCA1	chr7:121758940-121759186	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr7:121759804-121759975	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr7:121766838-121767094	H1-hESC	embryonic stem cell:	n/a	chr7:121766964-121766975
8	CEBPB	chr7:121775451-121775693	H1-hESC	embryonic stem cell:	n/a	chr7:121775569-121775580 chr7:121775571-121775580
9	CEBPB	chr7:121768220-121768571	HepG2	liver:	n/a	chr7:121768467-121768478
10	CEBPB	chr7:121770335-121770502	A549	lung:	n/a	n/a
11	CEBPB	chr7:121766837-121767140	HepG2	liver:	n/a	chr7:121766964-121766975
12	CEBPB	chr7:121775501-121775696	HepG2	liver:	n/a	chr7:121775569-121775580 chr7:121775571-121775580
13	CEBPB	chr7:121758782-121759370	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr7:121766820-121767124	Hela-S3	cervix:	n/a	chr7:121766964-121766975
15	CEBPB	chr7:121770414-121770673	HepG2	liver:	n/a	n/a
16	CHD1	chr7:121774120-121774209	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr7:121777560-121778807	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr7:121776148-121776349	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr7:121779100-121779666	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr7:121778551-121778733	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr7:121759560-121759699	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr7:121758884-121759158	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr7:121777140-121777290	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr7:121762980-121763130	HPF	lung:	n/a	n/a
25	CTCF	chr7:121760047-121760072	Lung_OC	lung:	n/a	n/a
26	CTCF	chr7:121775840-121775990	AG09309	skin:	n/a	n/a
27	CTCF	chr7:121776240-121776390	HPF	lung:	n/a	n/a
28	E2F4	chr7:121777717-121777915	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr7:121776568-121776691	MCF10A-Er-Src	breast:	n/a	n/a
30	EP300	chr7:121758863-121759161	Hela-S3	cervix:	n/a	n/a
31	FOS	chr7:121776709-121776856	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr7:121772384-121772681	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr7:121772446-121772651	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr7:121772463-121772704	MCF10A-Er-Src	breast:	n/a	n/a
35	FOXA1	chr7:121768198-121768543	HepG2	liver:	n/a	n/a
36	FOXA2	chr7:121768234-121768472	HepG2	liver:	n/a	n/a
37	GATA1	chr7:121777348-121778240	PBDE	blood:	n/a	chr7:121777960-121777969 chr7:121777545-121777555
38	GATA2	chr7:121777362-121778107	HUVEC	blood vessel:	n/a	chr7:121777960-121777969 chr7:121777545-121777555
39	GATA2	chr7:121778558-121778921	HUVEC	blood vessel:	n/a	chr7:121778713-121778734 chr7:121778720-121778727 chr7:121778720-121778727 chr7:121778720-121778729 chr7:121778720-121778727
40	GTF2F1	chr7:121758932-121759131	Hela-S3	cervix:	n/a	n/a
41	IRF1	chr7:121776924-121777296	K562	blood:	n/a	chr7:121777104-121777115 chr7:121777100-121777110 chr7:121777105-121777116 chr7:121777098-121777118 chr7:121777099-121777112 chr7:121777096-121777110 chr7:121777099-121777112 chr7:121777102-121777116 chr7:121777106-121777116 chr7:121777105-121777117 chr7:121777099-121777112 chr7:121777098-121777109 chr7:121777105-121777118 chr7:121777100-121777114 chr7:121777094-121777111 chr7:121777099-121777113 chr7:121777106-121777120 chr7:121777104-121777118 chr7:121777099-121777110 chr7:121777100-121777117 chr7:121777098-121777112
42	JUN	chr7:121757522-121757633	K562	blood:	n/a	n/a
43	MAFK	chr7:121758999-121759290	Hela-S3	cervix:	n/a	n/a
44	MAFK	chr7:121750016-121750185	HepG2	liver:	n/a	n/a
45	MAFK	chr7:121758506-121758642	HepG2	liver:	n/a	chr7:121758545-121758556 chr7:121758544-121758558 chr7:121758546-121758557 chr7:121758546-121758557
46	MAFK	chr7:121776440-121776518	HepG2	liver:	n/a	n/a
47	MAX	chr7:121776716-121776882	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr7:121758930-121759197	Hela-S3	cervix:	n/a	n/a
49	MAX	chr7:121777373-121777603	NB4	blood:	n/a	n/a
50	MAZ	chr7:121752307-121752312	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:121773889-121773939	Hela-S3	cervix:	n/a
2	chr7:121773889-121773939	Hela-S3	cervix:	n/a
3	chr7:121773889-121773939	SAEC	small airway:	n/a
4	chr7:121773889-121773939	HRPEpiC	eye:	n/a
5	chr7:121773889-121773939	AG04449	skin:	fetal
6	chr7:121773889-121773939	NT2-D1	testis:	n/a
7	chr7:121773889-121773939	HEEpiC	esophagus:	n/a
8	chr7:121767187-121767237	SAEC	small airway:	n/a
9	chr7:121767187-121767237	H1-hESC	embryonic stem cell:	embryo
10	chr7:121773889-121773939	SK-N-MC	brain:	n/a
11	chr7:121755577-121755627	NT2-D1	testis:	n/a
12	chr7:121767187-121767237	NB4	blood:	n/a
13	chr7:121755577-121755627	HMEC	breast:	n/a
14	chr7:121755577-121755627	SAEC	small airway:	n/a
15	chr7:121767187-121767237	AG10803	skin:	n/a
16	chr7:121773889-121773939	HepG2	liver:	n/a
17	chr7:121773889-121773939	PANC-1	pancreas:	n/a
18	chr7:121767187-121767237	AoSMC	blood vessel:	n/a
19	chr7:121773889-121773939	NB4	blood:	n/a
20	chr7:121755577-121755627	MCF-7	breast:	n/a
21	chr7:121755577-121755627	SK-N-MC	brain:	n/a
22	chr7:121767187-121767237	HCPEpiC	choroid plexus:	n/a
23	chr7:121767187-121767237	HUVEC	blood vessel:	n/a
24	chr7:121767187-121767237	Caco-2	colon:	n/a
25	chr7:121773889-121773939	GM12891	blood:	n/a
26	chr7:121767187-121767237	ECC-1	luminal epithelium:	n/a
27	chr7:121773889-121773939	AG04450	lung:	fetal
28	chr7:121755577-121755627	HCM	heart:	n/a
29	chr7:121767187-121767237	PANC-1	pancreas:	n/a
30	chr7:121767187-121767237	LNCaP	prostate:	n/a
31	chr7:121773889-121773939	Jurkat	blood:	n/a
32	chr7:121755577-121755627	HL-60	blood:	n/a
33	chr7:121755577-121755627	ProgFib	skin:	n/a
34	chr7:121767187-121767237	AG09309	skin:	n/a
35	chr7:121767187-121767237	U87	brain:	n/a
36	chr7:121755577-121755627	HNPCEpiC	eye:	n/a
37	chr7:121773889-121773939	HEK293	kidney:	embryo
38	chr7:121773889-121773939	HRE	kidney:	n/a
39	chr7:121755577-121755627	HEK293	kidney:	embryo
40	chr7:121755577-121755627	SKMC	muscle:	n/a
41	chr7:121767187-121767237	HCF	heart:	n/a
42	chr7:121755577-121755627	BE2_C	brain:	n/a
43	chr7:121767187-121767237	ovcar-3	ovarian:	n/a
44	chr7:121767187-121767237	Hela-S3	cervix:	n/a
45	chr7:121767187-121767237	HPAEpiC	pulmonary alveolar:	n/a
46	chr7:121773889-121773939	SKMC	muscle:	n/a
47	chr7:121773889-121773939	ovcar-3	ovarian:	n/a
48	chr7:121773889-121773939	IMR90	lung:	fetal
49	chr7:121767187-121767237	HRPEpiC	eye:	n/a
50	chr7:121755577-121755627	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type
1	chr7:121755276..121758622-chr7:121759872..121762000,3	K562	blood:
2	chr7:121766737..121769191-chr7:121770279..121772578,2	K562	blood:
3	chr7:121768771..121771920-chr7:121774258..121777646,3	K562	blood:
4	chr7:121777883..121779429-chr7:121782207..121783905,2	K562	blood:
5	chr7:121777186..121779429-chr7:121782405..121785136,2	K562	blood:
6	chr7:121768771..121771920-chr7:121774258..121777646,3	K562	blood:
7	chr7:121766737..121769191-chr7:121770279..121772578,2	K562	blood:
8	chr7:121755276..121758622-chr7:121759872..121762000,3	K562	blood:
9	chr7:121779239..121781681-chr7:121799360..121802322,2	K562	blood:

Variant related genes	Relation type
AASS	TF binding region
AASS	CpG island
ENSG00000008311	chromatin interactions

Extended variants
information (count: 975 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:975 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12113399	chr7:121749963-121749964	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552169318	chr7:121749977-121749978	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs187672781	chr7:121749979-121749980	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs569146077	chr7:121749981-121749982	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs190209932	chr7:121750000-121750001	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs117360498	chr7:121750026-121750027	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs567365690	chr7:121750031-121750032	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs536344675	chr7:121750057-121750058	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs553080140	chr7:121750058-121750059	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs180925937	chr7:121750163-121750164	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs367596391	chr7:121750188-121750189	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs371470691	chr7:121750190-121750191	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs76314060	chr7:121750264-121750265	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs558957406	chr7:121750265-121750266	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs146162487	chr7:121750369-121750370	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs35879326	chr7:121750442-121750443	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs575377712	chr7:121750457-121750458	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs34360736	chr7:121750469-121750470	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs537402153	chr7:121750478-121750479	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs576586517	chr7:121750575-121750576	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs184932159	chr7:121750600-121750601	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs190181607	chr7:121750722-121750723	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs540307221	chr7:121750761-121750762	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs375736052	chr7:121750774-121750775	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs11771234	chr7:121750775-121750776	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544830258	chr7:121750804-121750805	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs138252913	chr7:121750822-121750823	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs545985414	chr7:121750823-121750824	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs561461422	chr7:121750839-121750840	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs562603658	chr7:121750852-121750853	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs531626691	chr7:121750866-121750867	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs279667	chr7:121750897-121750898	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs34852879	chr7:121750908-121750909	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs80187415	chr7:121751102-121751103	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs116510086	chr7:121751257-121751258	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs192053254	chr7:121751318-121751319	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183423676	chr7:121751333-121751334	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs55833461	chr7:121751339-121751340	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs79098734	chr7:121751346-121751347	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs189068341	chr7:121751356-121751357	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs552747071	chr7:121751451-121751452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569390505	chr7:121751490-121751491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150716014	chr7:121751538-121751539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs279668	chr7:121751567-121751568	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs138995792	chr7:121751571-121751572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145137748	chr7:121751585-121751586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553872671	chr7:121751604-121751605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs279669	chr7:121751674-121751675	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs545622915	chr7:121751698-121751699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562702276	chr7:121751702-121751703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:789 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121685000-121772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:121703400-121755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:121715400-121752000	Weak transcription	NH-A	brain
4	chr7:121716000-121772000	Weak transcription	Osteobl	bone
5	chr7:121716000-121775600	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:121716200-121758200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:121718000-121754200	Weak transcription	Placenta	Placenta
8	chr7:121718000-121754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:121718000-121754800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:121718000-121756200	Weak transcription	Pancreas	Pancrea
11	chr7:121718200-121755000	Weak transcription	NHDF-Ad	bronchial
12	chr7:121719200-121751800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:121722000-121755000	Weak transcription	HUVEC	blood vessel
14	chr7:121725800-121758400	Weak transcription	HSMMtube	muscle
15	chr7:121726000-121774400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:121726000-121776000	Weak transcription	Fetal Stomach	stomach
17	chr7:121730400-121754600	Weak transcription	Aorta	Aorta
18	chr7:121731800-121753600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:121731800-121770400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:121732000-121773600	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr7:121739800-121760400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:121742200-121753400	Weak transcription	HSMM	muscle
23	chr7:121742600-121754200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:121742600-121756200	Weak transcription	Right Ventricle	heart
25	chr7:121743000-121770200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:121743800-121776200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:121744600-121753200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:121744600-121783200	Weak transcription	Lung	lung
29	chr7:121744800-121754400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:121744800-121760400	Strong transcription	Liver	Liver
31	chr7:121744800-121775200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:121744800-121776800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:121745000-121752000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:121745600-121774000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:121746000-121750200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr7:121746600-121754200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:121746800-121751400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:121747200-121750000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr7:121747200-121757000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:121747200-121762400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:121747600-121754600	Weak transcription	Ovary	ovary
42	chr7:121747800-121751000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:121747800-121751600	Weak transcription	Left Ventricle	heart
44	chr7:121747800-121753000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:121747800-121755000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:121747800-121756200	Weak transcription	Brain Angular Gyrus	brain
47	chr7:121747800-121756200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:121747800-121760000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:121747800-121760000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr7:121747800-121775800	Strong transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links