Variant report

Variant	esv1812409
Chromosome Location	chr7:70187264-70206903
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	ATF2	chr7:70193730-70194787	GM12878	blood:	n/a	n/a
2	ATF2	chr7:70194222-70194708	GM12878	blood:	n/a	n/a
3	ATF2	chr7:70191802-70192414	GM12878	blood:	n/a	n/a
4	ATF2	chr7:70191740-70192428	GM12878	blood:	n/a	n/a
5	BATF	chr7:70195779-70196118	GM12878	blood:	n/a	chr7:70195970-70195981
6	BATF	chr7:70191842-70192464	GM12878	blood:	n/a	n/a
7	BATF	chr7:70195849-70196064	GM12878	blood:	n/a	chr7:70195970-70195981
8	BATF	chr7:70192129-70192402	GM12878	blood:	n/a	n/a
9	BCL11A	chr7:70192090-70192386	GM12878	blood:	n/a	n/a
10	BCL11A	chr7:70191921-70192224	GM12878	blood:	n/a	chr7:70191981-70191990
11	BCL11A	chr7:70194287-70194666	GM12878	blood:	n/a	n/a
12	BCL11A	chr7:70193763-70194026	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL3	chr7:70191822-70192406	GM12878	blood:	n/a	chr7:70191981-70191990
14	BCL3	chr7:70194233-70194787	GM12878	blood:	n/a	n/a
15	BCL3	chr7:70191976-70192347	GM12878	blood:	n/a	chr7:70191981-70191990
16	BCLAF1	chr7:70194201-70194815	GM12878	blood:	n/a	n/a
17	BCLAF1	chr7:70191621-70192431	GM12878	blood:	n/a	chr7:70191981-70191990
18	BCLAF1	chr7:70191843-70192358	GM12878	blood:	n/a	chr7:70191981-70191990
19	BHLHE40	chr7:70191415-70192356	GM12878	blood:	n/a	n/a
20	BHLHE40	chr7:70201669-70201693	GM12878	blood:	n/a	n/a
21	BHLHE40	chr7:70193857-70194815	GM12878	blood:	n/a	n/a
22	CEBPB	chr7:70201763-70201984	A549	lung:	n/a	chr7:70201840-70201851 chr7:70201841-70201850 chr7:70201841-70201850 chr7:70201839-70201850 chr7:70201841-70201850 chr7:70201839-70201852 chr7:70201841-70201850
23	CEBPB	chr7:70201664-70202020	A549	lung:	n/a	chr7:70201840-70201851 chr7:70201841-70201850 chr7:70201841-70201850 chr7:70201839-70201850 chr7:70201841-70201850 chr7:70201839-70201852 chr7:70201841-70201850
24	CEBPB	chr7:70201659-70202017	HepG2	liver:	n/a	chr7:70201840-70201851 chr7:70201841-70201850 chr7:70201841-70201850 chr7:70201839-70201850 chr7:70201841-70201850 chr7:70201839-70201852 chr7:70201841-70201850
25	CEBPB	chr7:70201595-70202106	A549	lung:	n/a	chr7:70201840-70201851 chr7:70201841-70201850 chr7:70201841-70201850 chr7:70201839-70201850 chr7:70201841-70201850 chr7:70201839-70201852 chr7:70201841-70201850
26	CEBPB	chr7:70201625-70202591	IMR90	lung:	n/a	chr7:70201840-70201851 chr7:70201841-70201850 chr7:70201841-70201850 chr7:70201839-70201850 chr7:70201841-70201850 chr7:70201839-70201852 chr7:70201841-70201850
27	CEBPB	chr7:70194793-70195081	HepG2	liver:	n/a	chr7:70194924-70194935
28	CEBPB	chr7:70198141-70198507	IMR90	lung:	n/a	n/a
29	CEBPB	chr7:70201668-70201974	K562	blood:	n/a	chr7:70201840-70201851 chr7:70201841-70201850 chr7:70201841-70201850 chr7:70201839-70201850 chr7:70201841-70201850 chr7:70201839-70201852 chr7:70201841-70201850
30	CEBPB	chr7:70201715-70202034	H1-hESC	embryonic stem cell:	n/a	chr7:70201840-70201851 chr7:70201841-70201850 chr7:70201841-70201850 chr7:70201839-70201850 chr7:70201841-70201850 chr7:70201839-70201852 chr7:70201841-70201850
31	CEBPB	chr7:70194815-70195004	HepG2	liver:	n/a	chr7:70194924-70194935
32	CEBPB	chr7:70201697-70201948	Hela-S3	cervix:	n/a	chr7:70201840-70201851 chr7:70201841-70201850 chr7:70201841-70201850 chr7:70201839-70201850 chr7:70201841-70201850 chr7:70201839-70201852 chr7:70201841-70201850
33	CEBPB	chr7:70201772-70201910	HepG2	liver:	n/a	chr7:70201840-70201851 chr7:70201841-70201850 chr7:70201841-70201850 chr7:70201839-70201850 chr7:70201841-70201850 chr7:70201839-70201852 chr7:70201841-70201850
34	CHD1	chr7:70193869-70194679	GM12878	blood:	n/a	n/a
35	CHD2	chr7:70193835-70194085	GM12878	blood:	n/a	n/a
36	CHD2	chr7:70191637-70192400	GM12878	blood:	n/a	n/a
37	CTBP2	chr7:70193894-70194317	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr7:70202259-70202355	GM12878	blood:	n/a	n/a
39	CTCF	chr7:70203038-70203358	GM12878	blood:	n/a	n/a
40	CTCF	chr7:70203033-70203308	T-47D	breast:	n/a	n/a
41	CTCF	chr7:70191868-70192139	GM12878	blood:	n/a	n/a
42	CTCF	chr7:70203160-70203230	MCF-7	breast:	n/a	n/a
43	CTCF	chr7:70203160-70203310	A549	lung:	n/a	n/a
44	CTCF	chr7:70203220-70203370	HMEC	breast:	n/a	n/a
45	CTCF	chr7:70203040-70203190	RPTEC	kidney:	n/a	n/a
46	CTCF	chr7:70203120-70203270	AG09319	gingival:	n/a	n/a
47	CTCF	chr7:70203120-70203270	MCF-7	breast:	n/a	n/a
48	CTCF	chr7:70203120-70203270	SAEC	small airway:	n/a	n/a
49	CTCF	chr7:70203031-70203349	MCF-7	breast:	n/a	n/a
50	CTCF	chr7:70203174-70203241	Fibrobl	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:70200532-70200582	NT2-D1	testis:	n/a
2	chr7:70198123-70198173	BE2_C	brain:	n/a
3	chr7:70194602-70194652	NHDF-neo	bronchial:	n/a
4	chr7:70200532-70200582	IMR90	lung:	fetal
5	chr7:70203221-70203271	HNPCEpiC	eye:	n/a
6	chr7:70203221-70203271	GM12891	blood:	n/a
7	chr7:70200532-70200582	SAEC	small airway:	n/a
8	chr7:70203221-70203271	HL-60	blood:	n/a
9	chr7:70194602-70194652	GM06990	blood:	n/a
10	chr7:70203221-70203271	ProgFib	skin:	n/a
11	chr7:70203221-70203271	HCF	heart:	n/a
12	chr7:70203221-70203271	HCM	heart:	n/a
13	chr7:70198123-70198173	A549	lung:	n/a
14	chr7:70198123-70198173	Jurkat	blood:	n/a
15	chr7:70200532-70200582	HRE	kidney:	n/a
16	chr7:70203221-70203271	BE2_C	brain:	n/a
17	chr7:70194602-70194652	SK-N-MC	brain:	n/a
18	chr7:70200532-70200582	BJ	skin:	n/a
19	chr7:70203221-70203271	AG04449	skin:	fetal
20	chr7:70198123-70198173	HRE	kidney:	n/a
21	chr7:70203221-70203271	HIPEpiC	eye:	n/a
22	chr7:70200532-70200582	HPAEpiC	pulmonary alveolar:	n/a
23	chr7:70203221-70203271	Jurkat	blood:	n/a
24	chr7:70194602-70194652	K562	blood:	n/a
25	chr7:70198123-70198173	NT2-D1	testis:	n/a
26	chr7:70203221-70203271	HRE	kidney:	n/a
27	chr7:70194602-70194652	CMK	blood:	n/a
28	chr7:70198123-70198173	RPTEC	kidney:	n/a
29	chr7:70198123-70198173	MCF10A-Er-Src	breast:	n/a
30	chr7:70198123-70198173	ECC-1	luminal epithelium:	n/a
31	chr7:70200532-70200582	SKMC	muscle:	n/a
32	chr7:70200532-70200582	SK-N-SH_RA	brain:	n/a
33	chr7:70203221-70203271	HCPEpiC	choroid plexus:	n/a
34	chr7:70203221-70203271	HepG2	liver:	n/a
35	chr7:70203221-70203271	PrEC	prostate:	n/a
36	chr7:70198123-70198173	HRPEpiC	eye:	n/a
37	chr7:70194602-70194652	ovcar-3	ovarian:	n/a
38	chr7:70194602-70194652	IMR90	lung:	fetal
39	chr7:70194602-70194652	AG04449	skin:	fetal
40	chr7:70203221-70203271	ECC-1	luminal epithelium:	n/a
41	chr7:70203221-70203271	HEEpiC	esophagus:	n/a
42	chr7:70198123-70198173	GM06990	blood:	n/a
43	chr7:70194602-70194652	HEK293	kidney:	embryo
44	chr7:70194602-70194652	HIPEpiC	eye:	n/a
45	chr7:70198123-70198173	HCF	heart:	n/a
46	chr7:70194602-70194652	RPTEC	kidney:	n/a
47	chr7:70203221-70203271	GM06990	blood:	n/a
48	chr7:70198123-70198173	PrEC	prostate:	n/a
49	chr7:70200532-70200582	RPTEC	kidney:	n/a
50	chr7:70198123-70198173	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr7:70182197..70184832-chr7:70191535..70193515,2	MCF-7	breast:
2	chr6:39278169..39279933-chr7:70204739..70207119,2	MCF-7	breast:
3	chr7:70174321..70176691-chr7:70186792..70188789,2	MCF-7	breast:
4	chr7:70184183..70185798-chr7:70197589..70200298,2	MCF-7	breast:

Variant related genes	Relation type
AUTS2	TF binding region
AUTS2	CpG island

Extended variants
information (count: 816 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:816 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66632906	chr7:70187278-70187279	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368019985	chr7:70187281-70187282	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75974466	chr7:70187346-70187347	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561386612	chr7:70187361-70187362	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57823154	chr7:70187369-70187370	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558786276	chr7:70187421-70187422	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577039674	chr7:70187428-70187429	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61348062	chr7:70187436-70187437	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs552882511	chr7:70187450-70187451	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574729827	chr7:70187453-70187454	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376846083	chr7:70187529-70187530	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181549781	chr7:70187555-70187556	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs55782022	chr7:70187574-70187575	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548071680	chr7:70187639-70187640	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35858938	chr7:70187677-70187678	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs538791116	chr7:70187724-70187725	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533374840	chr7:70187748-70187749	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73443090	chr7:70187756-70187757	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547312128	chr7:70187772-70187773	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185959798	chr7:70187773-70187774	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371401143	chr7:70187823-70187824	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115471528	chr7:70187827-70187828	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73165383	chr7:70187835-70187836	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs17684167	chr7:70187836-70187837	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs376499632	chr7:70187890-70187891	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530548019	chr7:70187955-70187956	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145217732	chr7:70188049-70188050	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149138058	chr7:70188050-70188051	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534607447	chr7:70188054-70188055	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553233017	chr7:70188055-70188056	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568218571	chr7:70188074-70188075	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10280261	chr7:70188086-70188087	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557465020	chr7:70188119-70188120	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575789103	chr7:70188136-70188137	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138171979	chr7:70188174-70188175	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368911238	chr7:70188221-70188222	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554051618	chr7:70188229-70188230	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149215693	chr7:70188235-70188236	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190475401	chr7:70188248-70188249	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199706895	chr7:70188250-70188251	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540524848	chr7:70188257-70188258	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562055303	chr7:70188326-70188327	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12698920	chr7:70188336-70188337	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs114894309	chr7:70188353-70188354	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10265371	chr7:70188375-70188376	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541404957	chr7:70188421-70188422	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530511146	chr7:70188426-70188427	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552295579	chr7:70188434-70188435	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76948375	chr7:70188674-70188675	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570304335	chr7:70188676-70188677	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:889 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70161800-70191200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:70162200-70201600	Weak transcription	Primary B cells from cord blood	blood
3	chr7:70176200-70201600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:70176400-70189800	Weak transcription	Fetal Intestine Large	intestine
5	chr7:70176400-70192000	Weak transcription	HMEC	breast
6	chr7:70176400-70193800	Weak transcription	NH-A	brain
7	chr7:70179800-70190200	Weak transcription	Brain Angular Gyrus	brain
8	chr7:70179800-70192000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:70179800-70201600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:70180000-70188200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:70180000-70192200	Weak transcription	Aorta	Aorta
12	chr7:70180200-70190400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:70180200-70193800	Weak transcription	Fetal Intestine Small	intestine
14	chr7:70182600-70190400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:70182600-70194000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:70183000-70194000	Weak transcription	Fetal Stomach	stomach
17	chr7:70183000-70201600	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:70183200-70188400	Weak transcription	Lung	lung
19	chr7:70183200-70190000	Weak transcription	Brain Substantia Nigra	brain
20	chr7:70183200-70190200	Weak transcription	Esophagus	oesophagus
21	chr7:70183200-70191800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:70183200-70193800	Weak transcription	Thymus	Thymus
23	chr7:70183200-70194000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:70183200-70200200	Weak transcription	Ovary	ovary
25	chr7:70183200-70201800	Weak transcription	Pancreas	Pancrea
26	chr7:70183400-70188200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:70183400-70193800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:70183400-70194000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:70183400-70195400	Weak transcription	HSMM	muscle
30	chr7:70183600-70197600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:70184200-70190200	Weak transcription	Gastric	stomach
32	chr7:70184400-70189600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:70184400-70195200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:70184600-70193000	Enhancers	Liver	Liver
35	chr7:70185600-70190200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:70185800-70187400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:70185800-70187800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:70185800-70187800	Weak transcription	NHEK	skin
39	chr7:70185800-70188000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:70185800-70188000	Weak transcription	Brain Anterior Caudate	brain
41	chr7:70185800-70188200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:70185800-70189600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:70185800-70189800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:70185800-70190200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:70185800-70190200	Weak transcription	Fetal Lung	lung
46	chr7:70185800-70191600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:70185800-70191600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:70185800-70192000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:70185800-70197600	Weak transcription	HSMMtube	muscle
50	chr7:70186000-70187400	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links