Variant report

Variant	esv3427437
Chromosome Location	chr7:6453629-6454039
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6450208..6453839-chr7:6454159..6457397,3	MCF-7	breast:
2	chr7:6446943..6448782-chr7:6451434..6453838,3	K562	blood:
3	chr7:6447073..6448617-chr7:6452912..6454425,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164535	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549777681	chr7:6453631-6453632	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144789118	chr7:6453670-6453671	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533490054	chr7:6453672-6453673	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs836497	chr7:6453673-6453674	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569746562	chr7:6453674-6453675	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs13237316	chr7:6453681-6453682	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537026094	chr7:6453685-6453686	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535522232	chr7:6453692-6453693	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs193096335	chr7:6453693-6453694	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553630252	chr7:6453695-6453696	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs836498	chr7:6453699-6453700	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs185856992	chr7:6453773-6453774	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188099740	chr7:6453776-6453777	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539784650	chr7:6453798-6453799	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs4724803	chr7:6453808-6453809	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs191361825	chr7:6453843-6453844	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs4724804	chr7:6453845-6453846	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs561493483	chr7:6453862-6453863	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs573682187	chr7:6453863-6453864	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs577093174	chr7:6453886-6453887	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs375326958	chr7:6453929-6453930	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs369356125	chr7:6453936-6453937	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs551685723	chr7:6453937-6453938	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs80215464	chr7:6453941-6453942	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs532628215	chr7:6453943-6453944	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs563660543	chr7:6453949-6453950	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs531075846	chr7:6453967-6453968	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs549366447	chr7:6453995-6453996	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs544506352	chr7:6454012-6454013	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs836499	chr7:6454020-6454021	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs114566061	chr7:6454038-6454039	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Ependymoma	20639864	CNVD
Autism	20685689	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6426000-6456400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:6426400-6457400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:6437400-6457400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:6437400-6457400	Strong transcription	Dnd41	blood
6	chr7:6437600-6470400	Strong transcription	Fetal Brain Female	brain
7	chr7:6437800-6456400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:6437800-6457200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:6437800-6457400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr7:6438000-6457400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr7:6438000-6458000	Strong transcription	Osteobl	bone
12	chr7:6438000-6462400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:6438600-6457200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:6438600-6457400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:6438600-6475600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:6438800-6457400	Strong transcription	Primary T cells from cord blood	blood
17	chr7:6438800-6457600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:6438800-6462800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:6439000-6456400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:6439200-6456000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:6439200-6456800	Strong transcription	NHDF-Ad	bronchial
22	chr7:6439200-6457200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:6439200-6457400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:6439400-6454200	Strong transcription	Spleen	Spleen
25	chr7:6439400-6457200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:6439400-6457400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr7:6439400-6457400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr7:6439400-6458000	Strong transcription	Fetal Muscle Leg	muscle
29	chr7:6439600-6456000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:6439600-6456600	Strong transcription	HUVEC	blood vessel
31	chr7:6439600-6456800	Strong transcription	Aorta	Aorta
32	chr7:6439600-6457000	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:6439600-6457000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:6439600-6457200	Strong transcription	Fetal Lung	lung
35	chr7:6439600-6457400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:6439600-6472400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:6439800-6454800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr7:6439800-6457400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:6439800-6457400	Strong transcription	Liver	Liver
40	chr7:6439800-6457400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:6439800-6477400	Strong transcription	Fetal Intestine Small	intestine
44	chr7:6440200-6456200	Strong transcription	A549	lung
45	chr7:6440200-6456400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:6440200-6457400	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr7:6440200-6461400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:6440200-6464600	Weak transcription	Right Atrium	heart
49	chr7:6440400-6457200	Strong transcription	Gastric	stomach
50	chr7:6440400-6457400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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