Variant report

Variant	esv2032253
Chromosome Location	chr4:2827145-2827149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:62)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:2827092-2827249	GM12891	blood:	n/a	n/a
2	POLR2A	chr4:2827054-2827331	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr4:2827013-2827422	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:2827117-2827580	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr4:2827028-2827383	GM12878	blood:	n/a	n/a
6	POLR2A	chr4:2826998-2827411	GM12892	blood:	n/a	n/a
7	POLR2A	chr4:2826971-2827382	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr4:2826826-2827528	GM12892	blood:	n/a	n/a
9	POLR2A	chr4:2827128-2827372	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr4:2827002-2827497	GM12891	blood:	n/a	n/a
11	POLR2A	chr4:2827022-2827486	GM12891	blood:	n/a	n/a
12	POLR2A	chr4:2826390-2827515	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:2827050-2827433	GM12891	blood:	n/a	n/a
14	POLR2A	chr4:2827091-2827324	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr4:2827029-2827381	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:2827033-2827418	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr4:2827039-2827404	GM12878	blood:	n/a	n/a
18	POU2F2	chr4:2827066-2827428	GM12878	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:2827126-2827176	BJ	skin:	n/a
2	chr4:2827126-2827176	BJ	skin:	n/a
3	chr4:2827126-2827176	AG09309	skin:	n/a
4	chr4:2827126-2827176	GM06990	blood:	n/a
5	chr4:2827126-2827176	MCF10A-Er-Src	breast:	n/a
6	chr4:2827126-2827176	HMEC	breast:	n/a
7	chr4:2827126-2827176	Hepatocyte	liver:	n/a
8	chr4:2827126-2827176	HNPCEpiC	eye:	n/a
9	chr4:2827126-2827176	A549	lung:	n/a
10	chr4:2827126-2827176	U87	brain:	n/a
11	chr4:2827126-2827176	NB4	blood:	n/a
12	chr4:2827126-2827176	AG09319	gingival:	n/a
13	chr4:2827126-2827176	IMR90	lung:	fetal
14	chr4:2827126-2827176	PFSK-1	brain:	n/a
15	chr4:2827126-2827176	AoSMC	blood vessel:	n/a
16	chr4:2827126-2827176	GM12891	blood:	n/a
17	chr4:2827126-2827176	RPTEC	kidney:	n/a
18	chr4:2827126-2827176	HPAEpiC	pulmonary alveolar:	n/a
19	chr4:2827126-2827176	AG04450	lung:	fetal
20	chr4:2827126-2827176	NT2-D1	testis:	n/a
21	chr4:2827126-2827176	HEK293	kidney:	embryo
22	chr4:2827126-2827176	HCPEpiC	choroid plexus:	n/a
23	chr4:2827126-2827176	HAEpiC	amniotic membrane:	n/a
24	chr4:2827126-2827176	LNCaP	prostate:	n/a
25	chr4:2827126-2827176	PrEC	prostate:	n/a
26	chr4:2827126-2827176	BE2_C	brain:	n/a
27	chr4:2827126-2827176	PANC-1	pancreas:	n/a
28	chr4:2827126-2827176	K562	blood:	n/a
29	chr4:2827126-2827176	HCM	heart:	n/a
30	chr4:2827126-2827176	ECC-1	luminal epithelium:	n/a
31	chr4:2827126-2827176	NHBE	bronchial:	n/a
32	chr4:2827126-2827176	ProgFib	skin:	n/a
33	chr4:2827126-2827176	HRE	kidney:	n/a
34	chr4:2827126-2827176	SK-N-SH_RA	brain:	n/a
35	chr4:2827126-2827176	SK-N-SH	brain:	n/a
36	chr4:2827126-2827176	SAEC	small airway:	n/a
37	chr4:2827126-2827176	AG10803	skin:	n/a
38	chr4:2827126-2827176	T-47D	breast:	n/a
39	chr4:2827126-2827176	HRPEpiC	eye:	n/a
40	chr4:2827126-2827176	NHDF-neo	bronchial:	n/a
41	chr4:2827126-2827176	GM12892	blood:	n/a
42	chr4:2827126-2827176	HCF	heart:	n/a
43	chr4:2827126-2827176	GM19239	blood:	n/a
44	chr4:2827126-2827176	NH-A	brain:	n/a
45	chr4:2827126-2827176	Jurkat	blood:	n/a
46	chr4:2827126-2827176	HCT-116	colon:	n/a
47	chr4:2827126-2827176	CMK	blood:	n/a
48	chr4:2827126-2827176	AG04449	skin:	fetal
49	chr4:2827126-2827176	HEEpiC	esophagus:	n/a
50	chr4:2827126-2827176	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:2824402..2830718-chr4:2842859..2847645,11	MCF-7	breast:
2	chr4:2824960..2827685-chr4:2829062..2834190,6	MCF-7	breast:
3	chr4:2826806..2829298-chr4:2829987..2832015,2	MCF-7	breast:
4	chr4:2822103..2824509-chr4:2824545..2827389,5	MCF-7	breast:
5	chr4:2794820..2799191-chr4:2824314..2827597,4	MCF-7	breast:

No data

Variant related genes	Relation type
SH3BP2	TF binding region
SH3BP2	CpG island
ENSG00000087274	chromatin interactions
ENSG00000087266	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 64 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146926935	chr4:2827145-2827146	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Breast cancer	21785460	CNVD
Ependymoma	20639864	CNVD
Facial dysmorphism	22438245	CNVD
Wolf-Hirschhorn syndrome	22438245	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2820400-2827600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:2820600-2827200	Weak transcription	Aorta	Aorta
3	chr4:2820600-2827200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:2820600-2832400	Weak transcription	NHDF-Ad	bronchial
5	chr4:2820600-2839000	Weak transcription	Right Atrium	heart
6	chr4:2820600-2839200	Weak transcription	Brain Angular Gyrus	brain
7	chr4:2820600-2844600	Weak transcription	Psoas Muscle	Psoas
8	chr4:2820800-2828200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:2820800-2835200	Weak transcription	HUVEC	blood vessel
10	chr4:2820800-2835400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr4:2820800-2839600	Weak transcription	NHEK	skin
12	chr4:2821000-2844400	Weak transcription	HMEC	breast
13	chr4:2821200-2831400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:2821200-2834200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:2821200-2835400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:2821400-2828600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:2821400-2836200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:2821400-2837800	Weak transcription	Small Intestine	intestine
19	chr4:2821600-2827400	Strong transcription	Fetal Stomach	stomach
20	chr4:2821600-2835400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:2821800-2828600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:2821800-2828600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:2821800-2835800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:2821800-2835800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:2821800-2838000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:2821800-2838000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:2821800-2838200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:2821800-2838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:2821800-2838800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:2821800-2844200	Weak transcription	Hela-S3	cervix
31	chr4:2822000-2827200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr4:2822000-2831600	Weak transcription	NH-A	brain
33	chr4:2822000-2833600	Strong transcription	Primary B cells from cord blood	blood
34	chr4:2822000-2835200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:2822000-2835600	Strong transcription	Colonic Mucosa	Colon
36	chr4:2822000-2836000	Strong transcription	Primary T cells from cord blood	blood
37	chr4:2822000-2837200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:2822000-2837600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:2822200-2836400	Strong transcription	Thymus	Thymus
40	chr4:2822200-2837600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr4:2822400-2828200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:2822400-2835800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:2822400-2838200	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:2822600-2827600	Strong transcription	Ovary	ovary
45	chr4:2822600-2833400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr4:2822600-2835800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr4:2822600-2835800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr4:2822600-2835800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:2822600-2836200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr4:2822600-2836600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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