Variant report

Variant	esv3350370
Chromosome Location	chr7:120688071-120688457
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr7:120688267-120688269	K562	blood:	n/a	n/a
2	CBX3	chr7:120687406-120688159	K562	blood:	n/a	n/a
3	JUND	chr7:120688168-120688506	K562	blood:	n/a	n/a
4	MYC	chr7:120688146-120688157	K562	blood:	n/a	n/a
5	POLR2A	chr7:120688159-120688300	K562	blood:	n/a	n/a
6	RCOR1	chr7:120688341-120688464	K562	blood:	n/a	n/a
7	RCOR1	chr7:120688081-120688088	K562	blood:	n/a	n/a
8	ZBTB33	chr7:120687670-120688119	K562	blood:	n/a	n/a
9	ZC3H11A	chr7:120688360-120688467	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120659278..120662150-chr7:120687240..120689583,2	K562	blood:
2	chr7:120685095..120691151-chr7:120712234..120720635,10	K562	blood:
3	chr7:120688105..120689645-chr7:120709795..120712085,2	K562	blood:
4	chr7:120688120..120689909-chr7:120713674..120716576,3	K562	blood:
5	chr7:120687520..120689259-chr7:120697389..120698977,2	K562	blood:

No data

Variant related genes	Relation type
HMGN1P18	TF binding region
ENSG00000106034	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79509559	chr7:120688093-120688094	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs533636649	chr7:120688098-120688099	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs112836726	chr7:120688135-120688136	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs549948437	chr7:120688175-120688176	Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs569711935	chr7:120688256-120688257	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112423405	chr7:120688265-120688266	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549052702	chr7:120688267-120688268	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565805031	chr7:120688307-120688308	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs147133293	chr7:120688346-120688347	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs138636416	chr7:120688379-120688380	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs553886836	chr7:120688392-120688393	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs2538485	chr7:120688407-120688408	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs539714585	chr7:120688419-120688420	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120673400-120689200	Weak transcription	HSMMtube	muscle
2	chr7:120673800-120694200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:120682000-120689200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:120682000-120689400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:120682000-120689400	Weak transcription	Osteobl	bone
6	chr7:120682200-120695800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:120682400-120719600	Weak transcription	Fetal Lung	lung
8	chr7:120682600-120692000	Weak transcription	Fetal Stomach	stomach
9	chr7:120682800-120700800	Weak transcription	Fetal Kidney	kidney
10	chr7:120683200-120689400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:120683200-120689400	Weak transcription	Right Ventricle	heart
12	chr7:120683800-120689400	Weak transcription	Ovary	ovary
13	chr7:120683800-120689400	Weak transcription	Psoas Muscle	Psoas
14	chr7:120683800-120690800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:120684000-120694000	Weak transcription	Small Intestine	intestine
16	chr7:120684200-120689400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:120684400-120689200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:120684400-120689200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:120684400-120689400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:120684400-120689400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:120684400-120689600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:120685000-120689600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:120685600-120688200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:120685600-120690000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr7:120686800-120688400	Transcr. at gene 5' and 3'	K562	blood
26	chr7:120686800-120690000	Weak transcription	Placenta	Placenta
27	chr7:120687000-120688200	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:120687000-120688400	Strong transcription	Colon Smooth Muscle	Colon
29	chr7:120687000-120688400	Strong transcription	NHDF-Ad	bronchial
30	chr7:120687000-120689600	Strong transcription	Adipose Nuclei	Adipose
31	chr7:120687000-120689800	Strong transcription	HSMM	muscle
32	chr7:120687200-120688600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:120687400-120689400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:120687400-120689400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:120687600-120688400	Strong transcription	Liver	Liver
36	chr7:120687600-120689200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:120687600-120689400	Weak transcription	Hela-S3	cervix
38	chr7:120687800-120688400	Strong transcription	Aorta	Aorta
39	chr7:120687800-120689200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:120687800-120689400	Strong transcription	Left Ventricle	heart
41	chr7:120687800-120689800	Strong transcription	NHLF	lung
42	chr7:120687800-120706600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:120688000-120688600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:120688000-120688600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:120688000-120689000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:120688000-120690200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr7:120688200-120688400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr7:120688200-120689000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
49	chr7:120688400-120689000	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:120688400-120689000	Genic enhancers	K562	blood

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