Variant report

Variant	esv3378663
Chromosome Location	chr4:174149108-174149646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174146730..174148234-chr4:174148547..174151368,2	K562	blood:
2	chr4:174123757..174125470-chr4:174148883..174150972,2	K562	blood:
3	chr4:174149045..174150839-chr4:174157691..174160667,3	K562	blood:
4	chr4:174141903..174144401-chr4:174146766..174149389,2	K562	blood:
5	chr4:174089332..174093564-chr4:174145332..174150414,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245213	chromatin interactions
ENSG00000109586	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13150320	chr4:174149111-174149112	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531998516	chr4:174149227-174149228	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543305280	chr4:174149228-174149229	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563559572	chr4:174149241-174149242	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs191746916	chr4:174149288-174149289	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs55699453	chr4:174149292-174149293	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs182434613	chr4:174149301-174149302	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs528182595	chr4:174149357-174149358	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs17323530	chr4:174149363-174149364	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs199689017	chr4:174149456-174149457	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200257099	chr4:174149458-174149459	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs568668942	chr4:174149498-174149499	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs186686681	chr4:174149503-174149504	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs114827608	chr4:174149584-174149585	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201050095	chr4:174149585-174149586	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Ovarian cancer	22355333	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174104000-174157200	Weak transcription	Ovary	ovary
2	chr4:174114200-174157800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:174114600-174155000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:174123600-174174200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr4:174126000-174156400	Weak transcription	Brain Anterior Caudate	brain
6	chr4:174126400-174149800	Weak transcription	Esophagus	oesophagus
7	chr4:174126600-174155200	Weak transcription	GM12878-XiMat	blood
8	chr4:174126600-174163400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr4:174127000-174163600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:174127000-174163600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:174128200-174169200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:174131800-174156400	Weak transcription	Fetal Intestine Small	intestine
13	chr4:174131800-174168600	Weak transcription	Gastric	stomach
14	chr4:174132800-174150600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr4:174136600-174158400	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:174136800-174157200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:174139000-174157600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:174140000-174150600	Weak transcription	Primary T cells from cord blood	blood
19	chr4:174140400-174158200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:174140400-174163400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:174140400-174163600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:174140400-174163600	Weak transcription	Aorta	Aorta
23	chr4:174140600-174149800	Weak transcription	Dnd41	blood
24	chr4:174140600-174150800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:174140600-174158000	Weak transcription	Hela-S3	cervix
26	chr4:174140600-174158200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:174140600-174158600	Weak transcription	HSMMtube	muscle
28	chr4:174142200-174173400	Weak transcription	Lung	lung
29	chr4:174143600-174155000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:174144200-174169000	Weak transcription	Fetal Intestine Large	intestine
31	chr4:174145200-174155000	Weak transcription	Primary B cells from cord blood	blood
32	chr4:174145800-174163800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:174145800-174163800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:174146400-174149200	Weak transcription	Spleen	Spleen
35	chr4:174146800-174150400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:174148000-174149200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:174148000-174150000	Weak transcription	K562	blood
38	chr4:174148000-174150600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:174148000-174150800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:174148000-174151200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:174148000-174152400	Weak transcription	Thymus	Thymus
42	chr4:174148000-174153200	Weak transcription	Fetal Thymus	thymus
43	chr4:174148000-174154800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:174148000-174155200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr4:174148000-174155400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:174148000-174156400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr4:174148000-174157200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr4:174148000-174157400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr4:174148000-174173400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:174148200-174154000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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