Variant report

Variant	nsv822677
Chromosome Location	chr4:103554695-103555214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103552180..103554817-chr4:103747906..103750209,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246560	chromatin interactions
ENSG00000109332	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5026469	chr4:103554713-103554714	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
2	rs547814092	chr4:103554715-103554716	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs386677937	chr4:103554722-103554723	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs539710458	chr4:103554732-103554733	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs5026471	chr4:103554733-103554734	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
6	rs5026472	chr4:103554773-103554774	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs536881484	chr4:103554775-103554776	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370817809	chr4:103554779-103554780	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs5026473	chr4:103554793-103554794	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs573406795	chr4:103554809-103554810	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs5026474	chr4:103554810-103554811	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs5026475	chr4:103554821-103554822	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs78253661	chr4:103554822-103554823	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191365267	chr4:103554826-103554827	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs5026476	chr4:103554910-103554911	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs33969351	chr4:103554931-103554932	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75707396	chr4:103554932-103554933	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371061318	chr4:103554942-103554943	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375122909	chr4:103554943-103554944	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78622752	chr4:103554952-103554953	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13106304	chr4:103554975-103554976	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs13106325	chr4:103554992-103554993	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs77280761	chr4:103555061-103555062	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562115864	chr4:103555184-103555185	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376793528	chr4:103555201-103555202	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103536200-103595400	Weak transcription	Colonic Mucosa	Colon
2	chr4:103536600-103562600	Weak transcription	Brain Germinal Matrix	brain
3	chr4:103536600-103595800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:103538200-103555600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:103538200-103555600	Weak transcription	Gastric	stomach
6	chr4:103538200-103555800	Weak transcription	Esophagus	oesophagus
7	chr4:103538800-103555600	Weak transcription	Right Ventricle	heart
8	chr4:103538800-103555800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:103541800-103562400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:103541800-103571000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:103542200-103555400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:103542200-103555400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:103542200-103555600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:103542200-103555600	Weak transcription	Brain Anterior Caudate	brain
15	chr4:103542400-103555400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:103542400-103555600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:103542400-103557200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:103542400-103560800	Weak transcription	Brain Substantia Nigra	brain
19	chr4:103542400-103562200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:103542400-103578800	Weak transcription	Psoas Muscle	Psoas
21	chr4:103542400-103594400	Weak transcription	K562	blood
22	chr4:103542400-103617400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:103542600-103555800	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:103542800-103557200	Weak transcription	Brain Angular Gyrus	brain
25	chr4:103542800-103563800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:103544200-103555400	Weak transcription	Pancreas	Pancrea
27	chr4:103545200-103555600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:103545200-103557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:103545200-103559800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:103545200-103592000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:103545800-103555400	Weak transcription	Fetal Stomach	stomach
32	chr4:103547000-103658200	Weak transcription	Small Intestine	intestine
33	chr4:103549000-103570400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:103549600-103555600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:103549600-103558600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:103549600-103561600	Weak transcription	NHDF-Ad	bronchial
37	chr4:103549800-103561600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr4:103549800-103561600	Weak transcription	Osteobl	bone
39	chr4:103549800-103572000	Weak transcription	Placenta	Placenta
40	chr4:103550200-103582800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:103550400-103573000	Weak transcription	Fetal Kidney	kidney
42	chr4:103551000-103562600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr4:103551000-103563000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:103551000-103565000	Strong transcription	Primary B cells from cord blood	blood
45	chr4:103551000-103607600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr4:103551000-103607800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr4:103551600-103564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:103551800-103563200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:103552000-103561000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr4:103552000-103562800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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