Variant report

Variant	esv3407878
Chromosome Location	chr7:116819066-116819550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr7:116819034-116819072	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116815451..116817275-chr7:116818297..116820072,2	K562	blood:
2	7:115890993-115892266..7:116815356-116819789	H1-hESC	embryonic stem cell:	embryo
3	chr7:116810203..116814227-chr7:116814859..116819852,6	K562	blood:

Variant related genes	Relation type
ST7	TF binding region
ENSG00000004866	chromatin interactions
ENSG00000135269	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575313219	chr7:116819089-116819090	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536202363	chr7:116819116-116819117	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs147225165	chr7:116819128-116819129	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs38867	chr7:116819135-116819136	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs38868	chr7:116819152-116819153	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553569994	chr7:116819157-116819158	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559555466	chr7:116819169-116819170	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs139823218	chr7:116819172-116819173	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs545299723	chr7:116819200-116819201	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs563601037	chr7:116819233-116819234	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs145358002	chr7:116819241-116819242	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs565740387	chr7:116819244-116819245	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs535980150	chr7:116819284-116819285	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs537938294	chr7:116819286-116819287	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs554689050	chr7:116819311-116819312	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549407148	chr7:116819318-116819319	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs374432332	chr7:116819334-116819335	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs561107905	chr7:116819335-116819336	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs528622866	chr7:116819461-116819462	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs38869	chr7:116819510-116819511	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571485588	chr7:116819522-116819523	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs145218459	chr7:116819527-116819528	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Squamous cell cancer	20885788	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	21569311	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116776400-116830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:116785200-116856600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:116787200-116830200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:116787400-116834000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:116793400-116830600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:116795600-116830200	Weak transcription	Fetal Intestine Small	intestine
7	chr7:116796800-116829400	Weak transcription	Fetal Brain Male	brain
8	chr7:116798000-116829800	Weak transcription	Gastric	stomach
9	chr7:116798000-116850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:116798200-116866600	Weak transcription	HMEC	breast
11	chr7:116798400-116849800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:116798600-116830000	Weak transcription	Brain Angular Gyrus	brain
13	chr7:116800200-116830000	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:116805200-116830000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:116805200-116850000	Weak transcription	Psoas Muscle	Psoas
16	chr7:116805400-116826200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:116806600-116820600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:116807600-116857800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:116808400-116871800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:116809800-116829600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:116810200-116829400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:116810200-116830200	Weak transcription	Spleen	Spleen
23	chr7:116810200-116832400	Weak transcription	A549	lung
24	chr7:116810200-116850000	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:116810400-116826200	Weak transcription	NH-A	brain
26	chr7:116811400-116829600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr7:116811400-116830200	Weak transcription	Right Ventricle	heart
28	chr7:116811600-116829600	Weak transcription	Ovary	ovary
29	chr7:116811600-116838400	Weak transcription	Pancreas	Pancrea
30	chr7:116811800-116828200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:116811800-116830200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:116811800-116833200	Weak transcription	NHDF-Ad	bronchial
33	chr7:116812000-116829400	Weak transcription	Placenta	Placenta
34	chr7:116812200-116829400	Weak transcription	Brain Substantia Nigra	brain
35	chr7:116812200-116830000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:116812200-116850000	Weak transcription	Hela-S3	cervix
37	chr7:116812400-116830000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr7:116812400-116830800	Weak transcription	HSMM	muscle
39	chr7:116812800-116829200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:116813000-116826200	Weak transcription	Osteobl	bone
41	chr7:116813400-116829200	Weak transcription	Fetal Heart	heart
42	chr7:116813400-116829800	Weak transcription	Lung	lung
43	chr7:116813600-116824400	Weak transcription	K562	blood
44	chr7:116813600-116829400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:116813600-116829600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:116813800-116822600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:116813800-116826400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:116813800-116829200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:116813800-116829400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:116813800-116829400	Weak transcription	Aorta	Aorta

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