Variant report

Variant	esv3345200
Chromosome Location	chr4:7782455-7782660
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	POLR2A	chr4:7782132-7782692	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr4:7775971-7782690	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7782182..7784812-chr4:7794360..7796536,2	K562	blood:

Variant related genes	Relation type
AFAP1	TF binding region
ENSG00000196526	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 54 )

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	rs544085652	chr4:7782464-7782465	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs563753260	chr4:7782473-7782474	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs375884135	chr4:7782481-7782482	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs573368168	chr4:7782511-7782512	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs10018256	chr4:7782515-7782516	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562045530	chr4:7782529-7782530	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs11737614	chr4:7782559-7782560	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs75367934	chr4:7782565-7782566	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369641525	chr4:7782576-7782577	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs562952122	chr4:7782585-7782586	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112942938	chr4:7782610-7782611	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs564456959	chr4:7782617-7782618	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs181344377	chr4:7782620-7782621	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7758200-7783200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:7758400-7795400	Weak transcription	Hela-S3	cervix
3	chr4:7759400-7790400	Weak transcription	Psoas Muscle	Psoas
4	chr4:7760000-7783000	Strong transcription	HSMMtube	muscle
5	chr4:7760000-7783200	Strong transcription	HSMM	muscle
6	chr4:7761400-7784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:7762000-7788000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:7762000-7805800	Weak transcription	Stomach Mucosa	stomach
9	chr4:7770800-7828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:7772000-7783000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr4:7773600-7782800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:7773600-7783000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:7773600-7783600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:7773800-7783400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:7774000-7782800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:7774000-7783400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:7774600-7783000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:7774600-7783400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:7775400-7783400	Weak transcription	Small Intestine	intestine
20	chr4:7776000-7784400	Strong transcription	Fetal Intestine Small	intestine
21	chr4:7776400-7787200	Weak transcription	Fetal Brain Male	brain
22	chr4:7776400-7790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:7776400-7799000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:7776400-7800000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr4:7776400-7806800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:7776600-7783000	Weak transcription	Right Ventricle	heart
27	chr4:7776600-7783200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr4:7776600-7785400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:7777000-7783600	Strong transcription	HMEC	breast
30	chr4:7777000-7785800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:7777200-7783400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:7777400-7784200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:7778000-7783000	Weak transcription	Left Ventricle	heart
34	chr4:7778000-7784400	Strong transcription	Fetal Brain Female	brain
35	chr4:7779200-7783600	Strong transcription	Brain Germinal Matrix	brain
36	chr4:7779400-7783200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr4:7779800-7782800	Weak transcription	Primary T cells from cord blood	blood
38	chr4:7779800-7782800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:7780200-7783400	Weak transcription	Aorta	Aorta
40	chr4:7780200-7794400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:7780400-7784200	Genic enhancers	Fetal Muscle Leg	muscle
42	chr4:7780600-7782800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:7780600-7783000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr4:7780600-7783200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:7780600-7785800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:7780600-7788000	Genic enhancers	Osteobl	bone
47	chr4:7780600-7800200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:7780800-7783000	Enhancers	Adipose Nuclei	Adipose
49	chr4:7780800-7784800	Genic enhancers	NH-A	brain
50	chr4:7780800-7790600	Weak transcription	Pancreas	Pancrea

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