Variant report

Variant	esv3434186
Chromosome Location	chr4:867286-867456
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	MAFF	chr4:867154-867418	HepG2	liver:	n/a	n/a
2	MAFK	chr4:867089-867408	HepG2	liver:	n/a	n/a
3	MAFK	chr4:867140-867604	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:867222-867581	K562	blood:	n/a	n/a
5	POLR2A	chr4:867385-867663	K562	blood:	n/a	n/a
6	POLR2A	chr4:867316-867375	K562	blood:	n/a	n/a
7	POLR2A	chr4:867445-867614	HepG2	liver:	n/a	n/a
8	POLR2A	chr4:867283-867500	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:867248-867307	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:867031..870950-chr4:874033..879525,7	K562	blood:

Variant related genes	Relation type
GAK	TF binding region
ENSG00000178950	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574338451	chr4:867286-867287	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs397879006	chr4:867297-867298	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs535596955	chr4:867300-867301	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs553797846	chr4:867355-867356	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs4690335	chr4:867415-867416	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs182450580	chr4:867435-867436	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs370626510	chr4:867442-867443	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs28689767	chr4:867443-867444	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:841200-872800	Strong transcription	Rectal Mucosa Donor 29	rectum
2	chr4:841200-881200	Strong transcription	Brain Germinal Matrix	brain
3	chr4:841200-881200	Strong transcription	Duodenum Mucosa	Duodenum
4	chr4:841200-898600	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:841200-898800	Strong transcription	Placenta	Placenta
6	chr4:841200-901400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:841200-906000	Strong transcription	Stomach Smooth Muscle	stomach
8	chr4:841400-870800	Strong transcription	Primary T cells from cord blood	blood
9	chr4:841400-884400	Strong transcription	Brain Hippocampus Middle	brain
10	chr4:841400-892000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:841400-907400	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:842000-881200	Strong transcription	Lung	lung
13	chr4:842000-907400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:842200-907600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:844200-907600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr4:847200-920000	Weak transcription	Right Atrium	heart
17	chr4:848200-884600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:849800-875400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:849800-885000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:849800-892200	Strong transcription	Colonic Mucosa	Colon
21	chr4:850000-878200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:850200-871400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr4:850200-872400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:850200-884200	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:850200-892000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr4:850400-868400	Strong transcription	Brain Cingulate Gyrus	brain
27	chr4:850400-896200	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:850600-870800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:850600-871400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:850600-892400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:850800-872000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr4:850800-872400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:851000-871400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:851400-871400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:851400-871600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr4:853400-891000	Weak transcription	Stomach Mucosa	stomach
37	chr4:853800-869800	Weak transcription	HUVEC	blood vessel
38	chr4:853800-872000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:853800-899400	Strong transcription	Dnd41	blood
40	chr4:856800-895600	Strong transcription	Fetal Brain Female	brain
41	chr4:857200-871600	Strong transcription	Ovary	ovary
42	chr4:857200-900200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:857400-884600	Strong transcription	Liver	Liver
44	chr4:857400-885400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:857400-899200	Strong transcription	Fetal Intestine Small	intestine
46	chr4:857400-906000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:857400-909600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr4:858000-907400	Strong transcription	Fetal Stomach	stomach
49	chr4:858200-884400	Strong transcription	Aorta	Aorta
50	chr4:859000-867400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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