Variant report

Variant	esv3476154
Chromosome Location	chr7:56005771-56006482
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	chr20:46414042..46416464-chr7:56004649..56007435,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196562	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538666975	chr7:56005779-56005780	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs536936961	chr7:56005821-56005822	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558600322	chr7:56005825-56005826	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs573757885	chr7:56005837-56005838	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534483622	chr7:56005838-56005839	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553155316	chr7:56005846-56005847	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs577620399	chr7:56005849-56005850	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184103533	chr7:56005858-56005859	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368953223	chr7:56005875-56005876	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563266364	chr7:56005892-56005893	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs372408981	chr7:56005894-56005895	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78456101	chr7:56005913-56005914	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187607974	chr7:56005931-56005932	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs192893373	chr7:56005932-56005933	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs13243072	chr7:56005991-56005992	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs17172505	chr7:56006006-56006007	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs151114791	chr7:56006015-56006016	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs140093776	chr7:56006076-56006077	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532458905	chr7:56006117-56006118	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553777488	chr7:56006118-56006119	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78107571	chr7:56006143-56006144	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs185840137	chr7:56006144-56006145	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35855265	chr7:56006280-56006281	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs190213980	chr7:56006291-56006292	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs150285833	chr7:56006322-56006323	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75166881	chr7:56006383-56006384	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552853706	chr7:56006385-56006386	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577810289	chr7:56006386-56006387	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538736116	chr7:56006441-56006442	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs144954438	chr7:56006456-56006457	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Esophageal squamous carcinoma	21637470	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Breast cancer	17142309	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55975800-56006800	Weak transcription	Fetal Kidney	kidney
2	chr7:55982600-56006200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:55986600-56006800	Weak transcription	Fetal Brain Male	brain
4	chr7:55996600-56006800	Weak transcription	Fetal Heart	heart
5	chr7:55999800-56006200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:56001200-56006000	ZNF genes & repeats	Fetal Stomach	stomach
7	chr7:56003200-56007800	ZNF genes & repeats	Fetal Lung	lung
8	chr7:56004000-56007600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr7:56004000-56007800	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr7:56004000-56008400	ZNF genes & repeats	Brain Germinal Matrix	brain
11	chr7:56004000-56009400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr7:56004000-56009400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:56004000-56010600	ZNF genes & repeats	Liver	Liver
14	chr7:56004200-56005800	Weak transcription	Fetal Brain Female	brain
15	chr7:56004400-56005800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:56004600-56006600	Weak transcription	Brain Substantia Nigra	brain
17	chr7:56004600-56006800	Weak transcription	Brain Angular Gyrus	brain
18	chr7:56004800-56006200	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:56005400-56006600	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:56005600-56007800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:56005800-56006000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:56005800-56006600	Weak transcription	Fetal Intestine Large	intestine
23	chr7:56005800-56008600	ZNF genes & repeats	Fetal Brain Female	brain
24	chr7:56006000-56007600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:56006000-56007600	ZNF genes & repeats	Brain Anterior Caudate	brain
26	chr7:56006000-56007600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
27	chr7:56006000-56007800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:56006000-56007800	Weak transcription	Fetal Stomach	stomach
29	chr7:56006200-56007600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:56006200-56007600	ZNF genes & repeats	Aorta	Aorta
31	chr7:56006200-56007600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:56006200-56007600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr7:56006200-56007800	ZNF genes & repeats	Brain Hippocampus Middle	brain
34	chr7:56006200-56007800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
35	chr7:56006200-56007800	ZNF genes & repeats	Ovary	ovary
36	chr7:56006200-56008400	ZNF genes & repeats	Left Ventricle	heart
37	chr7:56006400-56007600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:56006400-56007600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
39	chr7:56006400-56008400	ZNF genes & repeats	Fetal Muscle Trunk	muscle

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