Variant report

Variant	esv3504005
Chromosome Location	chr7:100348216-100351814
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: 246 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:246 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201666374	chr7:100348276-100348277	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199863487	chr7:100348277-100348278	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150170459	chr7:100348282-100348283	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs221833	chr7:100348288-100348289	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368207969	chr7:100348317-100348318	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546327738	chr7:100348320-100348321	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	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
8	rs374891408	chr7:100348336-100348337	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536117367	chr7:100348343-100348344	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368078446	chr7:100348345-100348346	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575878761	chr7:100348370-100348371	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540055019	chr7:100348383-100348384	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2293768	chr7:100348384-100348385	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs200060641	chr7:100348389-100348390	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374695881	chr7:100348393-100348394	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369072360	chr7:100348394-100348395	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138563581	chr7:100348416-100348417	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375877589	chr7:100348428-100348429	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376862546	chr7:100348429-100348430	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369617762	chr7:100348431-100348432	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373196932	chr7:100348445-100348446	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377496556	chr7:100348447-100348448	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369132205	chr7:100348448-100348449	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373977197	chr7:100348457-100348458	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563263050	chr7:100348460-100348461	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530582579	chr7:100348477-100348478	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377386627	chr7:100348478-100348479	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552117958	chr7:100348550-100348551	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149298108	chr7:100348561-100348562	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528218446	chr7:100348579-100348580	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546686334	chr7:100348600-100348601	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562416418	chr7:100348605-100348606	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568014116	chr7:100348669-100348670	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144573538	chr7:100348703-100348704	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551263116	chr7:100348743-100348744	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375392253	chr7:100348789-100348790	Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569606145	chr7:100348826-100348827	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201142260	chr7:100348831-100348832	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558114024	chr7:100348837-100348838	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148531950	chr7:100348847-100348848	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533995551	chr7:100348864-100348865	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371539323	chr7:100348882-100348883	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200690150	chr7:100348890-100348891	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368410154	chr7:100348902-100348903	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371614551	chr7:100348906-100348907	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573667489	chr7:100348907-100348908	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374110160	chr7:100348922-100348923	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2075669	chr7:100348940-100348941	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs79952076	chr7:100348960-100348961	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187916993	chr7:100348971-100348972	Bivalent Enhancer 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:17 , 50 per page) page: 1

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

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