Variant report

Variant	esv3436716
Chromosome Location	chr7:100347416-100352414
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	chr7:100349143..100350800-chr7:100355026..100357418,2	K562	blood:
2	chr7:100348273..100350219-chr7:100392224..100395029,2	K562	blood:

Extended variants
information (count: 308 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531075261	chr7:100347445-100347446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62483592	chr7:100347449-100347450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs564465057	chr7:100347458-100347459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528481598	chr7:100347463-100347464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547641764	chr7:100347483-100347484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565852600	chr7:100347561-100347562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576910565	chr7:100347565-100347566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181406581	chr7:100347623-100347624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185520749	chr7:100347651-100347652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190235462	chr7:100347660-100347661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569409096	chr7:100347661-100347662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369297807	chr7:100347681-100347682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373704697	chr7:100347682-100347683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368023601	chr7:100347683-100347684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535918075	chr7:100347710-100347711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113074658	chr7:100347715-100347716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113362714	chr7:100347723-100347724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146926766	chr7:100347795-100347796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540818804	chr7:100347815-100347816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570379138	chr7:100347820-100347821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113977512	chr7:100347828-100347829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553617266	chr7:100347833-100347834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192426167	chr7:100347836-100347837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558745552	chr7:100347852-100347853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565296187	chr7:100347885-100347886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536055801	chr7:100347923-100347924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183752345	chr7:100347943-100347944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575920387	chr7:100347947-100347948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113006844	chr7:100347949-100347950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56998721	chr7:100348009-100348010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368995769	chr7:100348010-100348011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112205120	chr7:100348047-100348048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540302530	chr7:100348048-100348049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369185312	chr7:100348057-100348058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191304194	chr7:100348058-100348059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529983557	chr7:100348108-100348109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs3847057	chr7:100348129-100348130	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs143700425	chr7:100348137-100348138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544892404	chr7:100348147-100348148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376868280	chr7:100348163-100348164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552219433	chr7:100348185-100348186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201666374	chr7:100348276-100348277	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199863487	chr7:100348277-100348278	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150170459	chr7:100348282-100348283	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs221833	chr7:100348288-100348289	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368207969	chr7:100348317-100348318	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546327738	chr7:100348320-100348321	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17162410	chr7:100348327-100348328	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs374891408	chr7:100348336-100348337	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536117367	chr7:100348343-100348344	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100343200-100348200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:100343200-100356000	Weak transcription	Right Atrium	heart
3	chr7:100346200-100348000	Weak transcription	HepG2	liver
4	chr7:100348000-100348200	Enhancers	HepG2	liver
5	chr7:100348200-100348400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:100348200-100348600	Bivalent Enhancer	Placenta	Placenta
7	chr7:100348200-100348600	Bivalent Enhancer	HepG2	liver
8	chr7:100348200-100348800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr7:100348200-100348800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:100348600-100348800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr7:100348800-100349000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr7:100348800-100349000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:100349000-100349200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:100349000-100349200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr7:100349000-100355800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:100349200-100351000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:100350600-100350800	Enhancers	Hela-S3	cervix
18	chr7:100350800-100351600	Weak transcription	Hela-S3	cervix
19	chr7:100351600-100351800	Enhancers	Hela-S3	cervix
20	chr7:100351800-100354000	Weak transcription	Hela-S3	cervix

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