Variant report

Variant	esv994067
Chromosome Location	chr7:83749438-83759598
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:83743073..83745524-chr7:83752305..83754687,2	MCF-7	breast:
2	chr7:83719585..83722365-chr7:83758101..83759838,2	K562	blood:
3	chr7:83754771..83757226-chr7:83760360..83762151,2	MCF-7	breast:

Extended variants
information (count: 339 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:339 , 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	rs546121779	chr7:83749468-83749469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191358712	chr7:83749482-83749483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182825331	chr7:83749526-83749527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531300029	chr7:83749577-83749578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543478583	chr7:83749602-83749603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75865153	chr7:83749608-83749609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529045624	chr7:83749669-83749670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373734127	chr7:83749750-83749751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188349022	chr7:83749753-83749754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191096856	chr7:83749762-83749763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113117733	chr7:83749772-83749773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569648205	chr7:83749812-83749813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147638628	chr7:83749831-83749832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555385146	chr7:83749843-83749844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567410597	chr7:83749845-83749846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12707620	chr7:83749943-83749944	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553437734	chr7:83749989-83749990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs118101726	chr7:83750028-83750029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183641405	chr7:83750039-83750040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6977306	chr7:83750053-83750054	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs78139620	chr7:83750058-83750059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576604307	chr7:83750082-83750083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550466927	chr7:83750095-83750096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561707561	chr7:83750104-83750105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13233962	chr7:83750151-83750152	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs373073895	chr7:83750159-83750160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540741562	chr7:83750162-83750163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187716939	chr7:83750203-83750204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6964546	chr7:83750271-83750272	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs551578524	chr7:83750273-83750274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569609315	chr7:83750279-83750280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192684892	chr7:83750284-83750285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547600247	chr7:83750313-83750314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184253379	chr7:83750315-83750316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142278757	chr7:83750332-83750333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535043309	chr7:83750338-83750339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144174132	chr7:83750356-83750357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115631650	chr7:83750391-83750392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77962955	chr7:83750427-83750428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79480803	chr7:83750430-83750431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72101825	chr7:83750431-83750432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61436871	chr7:83750434-83750435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76030873	chr7:83750437-83750438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189862295	chr7:83750468-83750469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112813002	chr7:83750502-83750503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557580680	chr7:83750574-83750575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111290093	chr7:83750575-83750576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543296217	chr7:83750613-83750614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535208718	chr7:83750652-83750653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575378129	chr7:83750658-83750659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83734400-83762800	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:83741400-83753400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:83743000-83750400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:83743000-83756400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:83743200-83751800	Weak transcription	NHDF-Ad	bronchial
6	chr7:83743200-83752600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:83743400-83752400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:83743800-83752200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:83743800-83753200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:83744000-83752000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:83744400-83753400	Weak transcription	NHLF	lung
12	chr7:83745000-83769400	Weak transcription	Fetal Stomach	stomach
13	chr7:83746200-83753200	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:83746800-83749800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:83747000-83752000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:83747200-83752000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:83747200-83752400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:83747200-83753200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:83747400-83752800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:83748000-83751800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:83748000-83753200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:83748400-83752000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:83748400-83752400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:83748800-83753200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:83749800-83751800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:83750400-83750800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:83750800-83751800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:83751800-83752200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:83751800-83753200	Enhancers	NHDF-Ad	bronchial
30	chr7:83751800-83753400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:83751800-83753400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:83751800-83753800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:83752000-83753200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:83752000-83753400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:83752000-83753800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:83752000-83753800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:83752000-83753800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:83752000-83754000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr7:83752200-83752400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:83752200-83752400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:83752200-83752400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:83752200-83752400	Enhancers	Brain Cingulate Gyrus	brain
43	chr7:83752200-83752400	Enhancers	Osteobl	bone
44	chr7:83752200-83753400	Enhancers	Brain Substantia Nigra	brain
45	chr7:83752200-83753800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:83752400-83752600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:83752400-83752600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:83752400-83752600	Enhancers	A549	lung
49	chr7:83752400-83753000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:83752400-83753000	Weak transcription	HUVEC	blood vessel

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