Variant report

Variant	esv20618
Chromosome Location	chr7:136936404-136937641
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	chr7:136930142..136933282-chr7:136935160..136937647,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79997103	chr7:136936408-136936409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544497316	chr7:136936473-136936474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs137896464	chr7:136936525-136936526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377179118	chr7:136936596-136936597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557999977	chr7:136936614-136936615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35674801	chr7:136936639-136936640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149443798	chr7:136936640-136936641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545984415	chr7:136936649-136936650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186110376	chr7:136936694-136936695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190531589	chr7:136936695-136936696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143793666	chr7:136936770-136936771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117680505	chr7:136936785-136936786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556822235	chr7:136936796-136936797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117063723	chr7:136936810-136936811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111533414	chr7:136936820-136936821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576680294	chr7:136936838-136936839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537395500	chr7:136936839-136936840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148142325	chr7:136936853-136936854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542322528	chr7:136936868-136936869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143954710	chr7:136936893-136936894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11970870	chr7:136936942-136936943	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546877593	chr7:136936959-136936960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566603054	chr7:136936964-136936965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535186454	chr7:136936972-136936973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369651183	chr7:136937037-136937038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372491640	chr7:136937074-136937075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541417681	chr7:136937095-136937096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548991735	chr7:136937103-136937104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374197494	chr7:136937155-136937156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs322296	chr7:136937189-136937190	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375353504	chr7:136937313-136937314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538147274	chr7:136937352-136937353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185836731	chr7:136937354-136937355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559578580	chr7:136937423-136937424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12535816	chr7:136937427-136937428	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs17169003	chr7:136937464-136937465	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs573312036	chr7:136937495-136937496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147278254	chr7:136937524-136937525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561765670	chr7:136937584-136937585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575197360	chr7:136937585-136937586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544508428	chr7:136937628-136937629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564489336	chr7:136937641-136937642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136909800-136943000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:136913400-136937200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:136920200-136939000	Weak transcription	Fetal Kidney	kidney
4	chr7:136923200-136939600	Weak transcription	Brain Angular Gyrus	brain
5	chr7:136923200-136940200	Weak transcription	Brain Substantia Nigra	brain
6	chr7:136923600-136937800	Weak transcription	Brain Germinal Matrix	brain
7	chr7:136923800-136937600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:136924000-136936800	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:136924000-136939800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:136924000-136939800	Weak transcription	Fetal Intestine Small	intestine
11	chr7:136924400-136939200	Weak transcription	Aorta	Aorta
12	chr7:136924600-136941400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:136926600-136943400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:136927000-136942600	Weak transcription	Fetal Brain Male	brain
15	chr7:136927200-136950000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:136927400-136939200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:136927400-136944000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:136928600-136940000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:136929600-136943000	Weak transcription	Liver	Liver
20	chr7:136931200-136939200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:136931600-136943000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:136932600-136938600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:136933400-136938200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:136933800-136938000	Strong transcription	Brain Anterior Caudate	brain
25	chr7:136934200-136939600	Weak transcription	Fetal Brain Female	brain
26	chr7:136934600-136938000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:136934800-136937200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:136935400-136940600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:136935600-136938400	Strong transcription	Placenta	Placenta
30	chr7:136935800-136936800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:136935800-136943000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:136936200-136937600	Weak transcription	Fetal Stomach	stomach
33	chr7:136936200-136939800	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:136936400-136937200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:136936800-136938000	Strong transcription	Brain Hippocampus Middle	brain
36	chr7:136936800-136951600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:136937200-136938200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:136937200-136941200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:136937600-136938400	Strong transcription	Brain Cingulate Gyrus	brain
40	chr7:136937600-136939000	Strong transcription	Fetal Stomach	stomach

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