Variant report

Variant	esv3384729
Chromosome Location	chr7:56037943-56038362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:56031968..56033633-chr7:56035445..56039126,3	MCF-7	breast:
2	chr7:56035559..56038065-chr7:56131631..56133555,2	MCF-7	breast:
3	chr7:56030496..56032605-chr7:56035800..56038513,2	MCF-7	breast:
4	chr7:56036722..56038681-chr7:56040095..56042469,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129103	chromatin interactions
ENSG00000146729	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117111459	chr7:56037945-56037946	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs35160834	chr7:56037951-56037952	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs563391751	chr7:56037965-56037966	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs531495688	chr7:56037967-56037968	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs377609516	chr7:56037972-56037973	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562021608	chr7:56037980-56037981	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs36009676	chr7:56038002-56038003	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs398004845	chr7:56038019-56038020	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs190748960	chr7:56038062-56038063	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs529051246	chr7:56038088-56038089	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547584686	chr7:56038126-56038127	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565765084	chr7:56038127-56038128	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183177430	chr7:56038165-56038166	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs62456648	chr7:56038257-56038258	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs569706889	chr7:56038281-56038282	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs537058118	chr7:56038297-56038298	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555735397	chr7:56038313-56038314	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567968908	chr7:56038327-56038328	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140026650	chr7:56038342-56038343	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56033000-56039200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:56033200-56045400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:56033200-56045600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:56033200-56045600	Weak transcription	Aorta	Aorta
5	chr7:56033200-56045800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:56033200-56048600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:56033200-56050400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:56033200-56081400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:56033400-56040400	Weak transcription	Small Intestine	intestine
10	chr7:56033400-56045200	Weak transcription	HUVEC	blood vessel
11	chr7:56033400-56045600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:56033400-56045600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr7:56033400-56047000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:56033400-56047600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:56033600-56045600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:56033800-56038200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr7:56033800-56038400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:56033800-56038400	Weak transcription	HSMMtube	muscle
19	chr7:56033800-56038600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:56033800-56038600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:56033800-56038600	Weak transcription	Stomach Mucosa	stomach
22	chr7:56033800-56039000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:56033800-56039400	Strong transcription	Fetal Intestine Small	intestine
24	chr7:56033800-56045400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:56033800-56045400	Weak transcription	Hela-S3	cervix
26	chr7:56033800-56045400	Weak transcription	HSMM	muscle
27	chr7:56033800-56045600	Weak transcription	Placenta	Placenta
28	chr7:56033800-56045800	Weak transcription	Fetal Thymus	thymus
29	chr7:56033800-56045800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:56033800-56046000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:56033800-56046800	Weak transcription	GM12878-XiMat	blood
32	chr7:56033800-56046800	Weak transcription	NHLF	lung
33	chr7:56033800-56047200	Weak transcription	Colonic Mucosa	Colon
34	chr7:56033800-56047800	Weak transcription	HMEC	breast
35	chr7:56033800-56063000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:56033800-56065800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:56034000-56038200	Weak transcription	Brain Angular Gyrus	brain
38	chr7:56034000-56038400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:56034000-56038400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:56034000-56038400	Weak transcription	Brain Anterior Caudate	brain
41	chr7:56034000-56038400	Enhancers	Fetal Heart	heart
42	chr7:56034000-56038600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:56034000-56038800	Weak transcription	NH-A	brain
44	chr7:56034000-56045400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:56034000-56045400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:56034000-56045600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:56034000-56046000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:56034000-56046200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr7:56034000-56046400	Weak transcription	Fetal Kidney	kidney
50	chr7:56034000-56046800	Weak transcription	NHEK	skin

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