Variant report

Variant	nsv824281
Chromosome Location	chr7:116808632-116809265
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	POLR2A	chr7:116808874-116809038	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:116805094..116807764-chr7:116809060..116811331,2	MCF-7	breast:
2	chr7:116804900..116807792-chr7:116808693..116811016,2	K562	blood:
3	chr7:116807557..116811257-chr7:116811969..116815908,5	K562	blood:

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

Extended variants
information (count: 29 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193555	chr7:116808667-116808668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76147346	chr7:116808669-116808670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554470984	chr7:116808710-116808711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572426083	chr7:116808716-116808717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545831360	chr7:116808717-116808718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10487359	chr7:116808773-116808774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs576498718	chr7:116808817-116808818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184862497	chr7:116808824-116808825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs140910744	chr7:116808853-116808854	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200747292	chr7:116808961-116808962	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs377763076	chr7:116808977-116808978	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs548650699	chr7:116809010-116809011	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs144624484	chr7:116809011-116809012	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs114243728	chr7:116809020-116809021	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs187722182	chr7:116809026-116809027	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs193556	chr7:116809030-116809031	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560301185	chr7:116809060-116809061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs375830719	chr7:116809064-116809065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191203626	chr7:116809081-116809082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183531520	chr7:116809136-116809137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs193557	chr7:116809158-116809159	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549084913	chr7:116809171-116809172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200377962	chr7:116809173-116809174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376568751	chr7:116809180-116809181	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200145208	chr7:116809181-116809182	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548071623	chr7:116809182-116809183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs199667377	chr7:116809190-116809191	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200640833	chr7:116809191-116809192	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs36088347	chr7:116809207-116809208	Weak transcription	Chromatin interactive region	1 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:76 , 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	chr7:116779600-116811200	Weak transcription	Fetal Brain Female	brain
3	chr7:116783400-116811000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:116785200-116856600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:116787200-116830200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:116787400-116834000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:116793200-116811400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:116793400-116830600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:116793800-116811200	Weak transcription	HepG2	liver
10	chr7:116795400-116811000	Weak transcription	GM12878-XiMat	blood
11	chr7:116795400-116812200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:116795600-116811000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:116795600-116814600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:116795600-116830200	Weak transcription	Fetal Intestine Small	intestine
15	chr7:116796000-116811200	Weak transcription	Fetal Intestine Large	intestine
16	chr7:116796800-116829400	Weak transcription	Fetal Brain Male	brain
17	chr7:116798000-116811000	Weak transcription	Brain Germinal Matrix	brain
18	chr7:116798000-116811000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:116798000-116811000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:116798000-116811200	Weak transcription	Lung	lung
21	chr7:116798000-116811200	Weak transcription	Ovary	ovary
22	chr7:116798000-116811200	Weak transcription	K562	blood
23	chr7:116798000-116829800	Weak transcription	Gastric	stomach
24	chr7:116798000-116850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:116798200-116811200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:116798200-116813200	Weak transcription	Aorta	Aorta
27	chr7:116798200-116866600	Weak transcription	HMEC	breast
28	chr7:116798400-116849800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:116798600-116811200	Weak transcription	Right Ventricle	heart
30	chr7:116798600-116812000	Weak transcription	Fetal Stomach	stomach
31	chr7:116798600-116830000	Weak transcription	Brain Angular Gyrus	brain
32	chr7:116798800-116811000	Weak transcription	Brain Substantia Nigra	brain
33	chr7:116798800-116811200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:116798800-116811200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:116798800-116811200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:116799000-116811200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:116799000-116812600	Weak transcription	Brain Anterior Caudate	brain
38	chr7:116799200-116811200	Weak transcription	HSMMtube	muscle
39	chr7:116799200-116813600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:116800200-116830000	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:116801200-116811200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:116802400-116816400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr7:116803400-116809400	Weak transcription	A549	lung
44	chr7:116804800-116811000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:116805000-116813400	Weak transcription	Esophagus	oesophagus
46	chr7:116805200-116809800	Weak transcription	NH-A	brain
47	chr7:116805200-116810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:116805200-116811000	Weak transcription	HSMM	muscle
49	chr7:116805200-116811000	Weak transcription	NHDF-Ad	bronchial
50	chr7:116805200-116811200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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