Variant report

Variant	esv3340217
Chromosome Location	chr7:31116477-31119275
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	chr7:31118458..31121423-chr7:31132674..31135156,2	K562	blood:

Extended variants
information (count: 145 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555500004	chr7:31116574-31116575	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569466508	chr7:31116616-31116617	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536923697	chr7:31116617-31116618	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547881717	chr7:31116624-31116625	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2267728	chr7:31116637-31116638	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533536705	chr7:31116638-31116639	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558279435	chr7:31116641-31116642	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576510877	chr7:31116671-31116672	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190199914	chr7:31116674-31116675	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556280144	chr7:31116726-31116727	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs57939237	chr7:31116730-31116731	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143873383	chr7:31116732-31116733	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373045741	chr7:31116773-31116774	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560173529	chr7:31116783-31116784	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181303929	chr7:31116789-31116790	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540629228	chr7:31116846-31116847	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs56706006	chr7:31116863-31116864	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs118010198	chr7:31116895-31116896	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs185273733	chr7:31116947-31116948	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370365291	chr7:31116957-31116958	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs201562542	chr7:31117012-31117013	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs79270924	chr7:31117023-31117024	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs386711788	chr7:31117024-31117025	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs111211337	chr7:31117025-31117026	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs111069885	chr7:31117026-31117027	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs547116160	chr7:31117032-31117033	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs563070164	chr7:31117044-31117045	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs530342600	chr7:31117091-31117092	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs200310151	chr7:31117096-31117097	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs3076572	chr7:31117107-31117108	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs373809822	chr7:31117129-31117130	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs569405557	chr7:31117143-31117144	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs543382648	chr7:31117183-31117184	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs548895926	chr7:31117185-31117186	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs377605492	chr7:31117218-31117219	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs567029139	chr7:31117246-31117247	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs534263872	chr7:31117299-31117300	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs533586328	chr7:31117302-31117303	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs551743516	chr7:31117307-31117308	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs200781845	chr7:31117313-31117314	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs570218719	chr7:31117327-31117328	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs537521536	chr7:31117328-31117329	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs574388779	chr7:31117332-31117333	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs35868152	chr7:31117411-31117412	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs386711789	chr7:31117416-31117417	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs368731400	chr7:31117421-31117422	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs574610483	chr7:31117422-31117423	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs371806270	chr7:31117423-31117424	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs111558685	chr7:31117447-31117448	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs377696577	chr7:31117449-31117450	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
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
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:31101000-31137600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:31101200-31119200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:31102000-31126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:31102000-31134600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:31102400-31131800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:31110200-31117200	Weak transcription	Spleen	Spleen
7	chr7:31110800-31116800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:31112400-31124000	Weak transcription	Brain Anterior Caudate	brain
9	chr7:31113400-31131800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:31114400-31116600	Strong transcription	Fetal Stomach	stomach
11	chr7:31114400-31117000	Weak transcription	Fetal Brain Male	brain
12	chr7:31114400-31117000	Weak transcription	Pancreas	Pancrea
13	chr7:31114400-31119000	Weak transcription	HUVEC	blood vessel
14	chr7:31114600-31124800	Weak transcription	Brain Angular Gyrus	brain
15	chr7:31115000-31122200	Weak transcription	Right Atrium	heart
16	chr7:31115200-31116800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:31115200-31116800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:31115200-31117000	Weak transcription	Brain Substantia Nigra	brain
19	chr7:31115400-31118000	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:31115600-31116600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr7:31115800-31116800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:31116000-31117400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:31116200-31116600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:31116200-31116800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:31116200-31116800	Enhancers	Fetal Muscle Leg	muscle
26	chr7:31116400-31117200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:31116400-31117400	Genic enhancers	Fetal Brain Female	brain
28	chr7:31116400-31117800	Weak transcription	Brain Germinal Matrix	brain
29	chr7:31116600-31116800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:31116600-31116800	Enhancers	Fetal Muscle Trunk	muscle
31	chr7:31116600-31117600	Weak transcription	Fetal Stomach	stomach
32	chr7:31116800-31117000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:31116800-31117400	Active TSS	Fetal Lung	lung
34	chr7:31116800-31117600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:31116800-31117600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
36	chr7:31116800-31117600	ZNF genes & repeats	Fetal Kidney	kidney
37	chr7:31116800-31117800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr7:31116800-31117800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:31116800-31118600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:31116800-31119000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:31116800-31121600	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:31117000-31117200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
43	chr7:31117000-31117400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:31117000-31117600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:31117000-31117600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:31117000-31117600	Strong transcription	Fetal Brain Male	brain
47	chr7:31117000-31117600	ZNF genes & repeats	Pancreas	Pancrea
48	chr7:31117000-31118800	Strong transcription	Brain Substantia Nigra	brain
49	chr7:31117200-31117400	Genic enhancers	Spleen	Spleen
50	chr7:31117200-31118000	Enhancers	Right Ventricle	heart

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