Variant report

Variant	esv3407482
Chromosome Location	chr7:71756266-71758764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:71752349..71754126-chr7:71756443..71759399,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189061027	chr7:71756304-71756305	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs538696025	chr7:71756387-71756388	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs547688360	chr7:71756406-71756407	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs553606832	chr7:71756420-71756421	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs571962007	chr7:71756439-71756440	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs207468077	chr7:71756541-71756542	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs10277004	chr7:71756548-71756549	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs554834161	chr7:71756737-71756738	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs576374210	chr7:71756755-71756756	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs543587466	chr7:71756758-71756759	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs370753743	chr7:71756768-71756769	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs565171580	chr7:71756793-71756794	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs370064314	chr7:71756799-71756800	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs142228339	chr7:71756810-71756811	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs145908966	chr7:71756817-71756818	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs559593510	chr7:71756824-71756825	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534511724	chr7:71756845-71756846	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs147973473	chr7:71756870-71756871	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs377671474	chr7:71756879-71756880	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs554750758	chr7:71756882-71756883	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs7782391	chr7:71756887-71756888	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543756686	chr7:71756890-71756891	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs10244856	chr7:71756897-71756898	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs180933977	chr7:71756900-71756901	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs538458686	chr7:71756917-71756918	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs547428881	chr7:71756940-71756941	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs529982715	chr7:71756945-71756946	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs377211733	chr7:71756948-71756949	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs6460711	chr7:71756949-71756950	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs576312816	chr7:71756950-71756951	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533928666	chr7:71756967-71756968	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs141637172	chr7:71756973-71756974	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs78463452	chr7:71756986-71756987	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs10244985	chr7:71756998-71756999	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565224843	chr7:71757023-71757024	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577319366	chr7:71757024-71757025	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185452388	chr7:71757070-71757071	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150525040	chr7:71757082-71757083	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574865855	chr7:71757103-71757104	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62459264	chr7:71757124-71757125	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563641641	chr7:71757128-71757129	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556512916	chr7:71757135-71757136	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139516860	chr7:71757145-71757146	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375914724	chr7:71757169-71757170	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142777377	chr7:71757200-71757201	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532326557	chr7:71757208-71757209	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547324206	chr7:71757243-71757244	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561545213	chr7:71757264-71757265	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190954044	chr7:71757298-71757299	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182087360	chr7:71757316-71757317	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71732600-71760600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:71732800-71758000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:71755200-71756600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:71755400-71756400	Weak transcription	Thymus	Thymus
5	chr7:71755600-71756400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:71755600-71756800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:71756000-71757000	ZNF genes & repeats	Fetal Thymus	thymus
8	chr7:71756400-71756600	ZNF genes & repeats	Thymus	Thymus
9	chr7:71756400-71756800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr7:71756600-71757200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:71756600-71757200	Weak transcription	Thymus	Thymus
12	chr7:71756600-71757800	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:71756800-71757000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:71756800-71757800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:71757000-71757200	Strong transcription	Fetal Thymus	thymus
16	chr7:71757000-71758000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:71757200-71757400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:71757200-71757400	Genic enhancers	Fetal Thymus	thymus
19	chr7:71757200-71758400	Enhancers	Dnd41	blood
20	chr7:71757200-71758800	Enhancers	Thymus	Thymus
21	chr7:71757400-71757800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:71757400-71758800	Enhancers	Fetal Thymus	thymus
23	chr7:71757800-71758600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr7:71757800-71758600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:71757800-71758600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:71758000-71758200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:71758000-71758200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr7:71758200-71758400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr7:71758400-71758600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr7:71758600-71758800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr7:71758600-71759000	Enhancers	Primary hematopoietic stem cells	blood
32	chr7:71758600-71760200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:71758600-71760200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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