Variant report

Variant	esv3448888
Chromosome Location	chr7:66404726-66404921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66395155..66398077-chr7:66403876..66405793,2	MCF-7	breast:
2	chr7:66403915..66405990-chr7:66414278..66417036,2	K562	blood:
3	chr7:66403410..66405393-chr7:66457555..66459835,2	K562	blood:
4	chr7:66404078..66407158-chr7:66408723..66411794,4	K562	blood:

Variant related genes	Relation type
ENSG00000106609	chromatin interactions
ENSG00000126524	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10264873	chr7:66404770-66404771	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546009037	chr7:66404772-66404773	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs528377812	chr7:66404776-66404777	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs545021188	chr7:66404782-66404783	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190840828	chr7:66404793-66404794	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375067890	chr7:66404819-66404820	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs533325836	chr7:66404843-66404844	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs550215931	chr7:66404867-66404868	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs570138782	chr7:66404880-66404881	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66387600-66407200	Weak transcription	NH-A	brain
2	chr7:66387600-66409800	Weak transcription	Fetal Kidney	kidney
3	chr7:66387600-66428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:66388200-66406800	Weak transcription	NHLF	lung
5	chr7:66388400-66406800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:66388400-66406800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:66388600-66406800	Weak transcription	NHDF-Ad	bronchial
8	chr7:66389000-66406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:66389400-66405400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:66391200-66409800	Weak transcription	Brain Germinal Matrix	brain
11	chr7:66393000-66406600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:66393400-66411800	Weak transcription	Stomach Mucosa	stomach
13	chr7:66393800-66422200	Weak transcription	Fetal Heart	heart
14	chr7:66394200-66405400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:66394200-66408000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:66394400-66405400	Weak transcription	HMEC	breast
17	chr7:66394400-66405600	Weak transcription	Colonic Mucosa	Colon
18	chr7:66395400-66406800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:66395400-66406800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:66395600-66405400	Weak transcription	Right Atrium	heart
21	chr7:66395600-66407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:66395800-66405400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:66395800-66406400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:66395800-66406800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:66395800-66406800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:66395800-66406800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:66395800-66408000	Weak transcription	Esophagus	oesophagus
28	chr7:66395800-66412800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:66396000-66405400	Weak transcription	Spleen	Spleen
30	chr7:66396000-66406600	Weak transcription	Liver	Liver
31	chr7:66396000-66406600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:66396000-66406800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:66396000-66408200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:66396000-66409800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:66396000-66415800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:66396400-66406800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:66396800-66408000	Weak transcription	Small Intestine	intestine
38	chr7:66398400-66406400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:66398400-66406600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:66398400-66406800	Weak transcription	Placenta	Placenta
41	chr7:66398400-66406800	Weak transcription	Left Ventricle	heart
42	chr7:66398400-66410000	Weak transcription	Right Ventricle	heart
43	chr7:66398800-66405400	Weak transcription	Brain Anterior Caudate	brain
44	chr7:66398800-66405400	Weak transcription	Ovary	ovary
45	chr7:66398800-66405400	Weak transcription	Pancreas	Pancrea
46	chr7:66398800-66405400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:66398800-66406800	Weak transcription	Colon Smooth Muscle	Colon
48	chr7:66398800-66406800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:66398800-66407800	Weak transcription	Psoas Muscle	Psoas
50	chr7:66398800-66409800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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