Variant report

Variant	esv1794213
Chromosome Location	chr7:26140313-26145123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
2	chr7:26135924..26137855-chr7:26144469..26146230,4	MCF-7	breast:
3	chr7:26136960..26140512-chr7:26226454..26229545,3	K562	blood:
4	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
5	chr7:26133229..26135657-chr7:26144514..26146950,2	MCF-7	breast:
6	chr22:49929400..49929920-chr7:26140865..26141585,2	NB4	blood:
7	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
8	chr12:53436002..53436502-chr7:26140425..26141348,2	NB4	blood:
9	chr7:26140097..26142166-chr7:26224742..26227594,2	K562	blood:

No data

Extended variants
information (count: 156 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7455110	chr7:26140313-26140314	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200858333	chr7:26140335-26140336	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs546870384	chr7:26140371-26140372	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537136479	chr7:26140408-26140409	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs376230638	chr7:26140418-26140419	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs34310882	chr7:26140454-26140455	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs75675254	chr7:26140455-26140456	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs570219249	chr7:26140457-26140458	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs76151215	chr7:26140458-26140459	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs193014180	chr7:26140509-26140510	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs572427580	chr7:26140536-26140537	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144098880	chr7:26140567-26140568	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs369550322	chr7:26140600-26140601	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs554931763	chr7:26140628-26140629	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs574631806	chr7:26140639-26140640	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs145741312	chr7:26140651-26140652	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs538604369	chr7:26140686-26140687	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs552137404	chr7:26140707-26140708	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs576585945	chr7:26140730-26140731	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs372292512	chr7:26140731-26140732	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs568789956	chr7:26140749-26140750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs546093819	chr7:26140811-26140812	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs76912066	chr7:26140829-26140830	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs185583253	chr7:26140948-26140949	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs111545500	chr7:26140959-26140960	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs554410487	chr7:26140961-26140962	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs76691765	chr7:26140962-26140963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs530626762	chr7:26141008-26141009	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs550654778	chr7:26141036-26141037	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs144752915	chr7:26141054-26141055	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs10270120	chr7:26141058-26141059	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs552718033	chr7:26141067-26141068	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs114025271	chr7:26141071-26141072	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs190488589	chr7:26141092-26141093	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs554710435	chr7:26141133-26141134	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs180938862	chr7:26141183-26141184	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs10270062	chr7:26141188-26141189	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs142861126	chr7:26141195-26141196	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs537157569	chr7:26141202-26141203	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs10226943	chr7:26141244-26141245	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575590268	chr7:26141255-26141256	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs185458621	chr7:26141267-26141268	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs545706559	chr7:26141268-26141269	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs10240749	chr7:26141297-26141298	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573102433	chr7:26141350-26141351	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs542061956	chr7:26141460-26141461	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs1859304	chr7:26141486-26141487	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs76091646	chr7:26141517-26141518	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs530487759	chr7:26141524-26141525	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs116914941	chr7:26141531-26141532	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26119200-26141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:26131800-26140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:26136200-26140600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:26136200-26141000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr7:26136400-26140400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:26136400-26142400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr7:26137000-26140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:26137600-26140600	Weak transcription	Fetal Intestine Large	intestine
9	chr7:26137600-26140800	Weak transcription	HepG2	liver
10	chr7:26137800-26140400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:26137800-26141000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:26137800-26141000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:26137800-26141000	Enhancers	Primary T cells from cord blood	blood
14	chr7:26137800-26141000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:26138000-26140400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:26138000-26140400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:26138000-26140600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:26138000-26140600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:26138000-26141000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr7:26138000-26141000	Weak transcription	Thymus	Thymus
21	chr7:26138200-26140600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:26138200-26140600	Weak transcription	Fetal Thymus	thymus
23	chr7:26138200-26141400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:26138800-26143600	Enhancers	Placenta	Placenta
25	chr7:26139000-26140400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr7:26139000-26141000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:26139200-26141000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:26139200-26141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr7:26139400-26141000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:26139600-26142400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr7:26139800-26140600	Enhancers	Primary B cells from peripheral blood	blood
32	chr7:26140000-26140600	Enhancers	Primary B cells from cord blood	blood
33	chr7:26140000-26140600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr7:26140000-26140600	Enhancers	GM12878-XiMat	blood
35	chr7:26140000-26140800	Enhancers	HUVEC	blood vessel
36	chr7:26140000-26141000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr7:26140000-26141200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:26140000-26142400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:26140200-26141000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr7:26140400-26140600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:26140400-26140600	Enhancers	Primary hematopoietic stem cells	blood
42	chr7:26140400-26140600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:26140400-26140800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr7:26140400-26141000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr7:26140400-26141400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr7:26140400-26141800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:26140400-26142400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr7:26140600-26140800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:26140600-26140800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:26140600-26140800	Enhancers	Fetal Kidney	kidney

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