Variant report

Variant	esv3446413
Chromosome Location	chr8:95444376-95448274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:95434502..95438276-chr8:95441146..95446197,5	K562	blood:
2	chr8:95437761..95439579-chr8:95445352..95447331,2	MCF-7	breast:
3	chr8:95446159..95448906-chr8:95449268..95451697,2	K562	blood:
4	chr8:95443110..95445447-chr8:95447774..95450176,4	K562	blood:
5	chr8:95426007..95427555-chr8:95444022..95446517,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RAD54B	hsa-miR-215-5p	chr8:95444577-95444598
2	RAD54B	hsa-miR-192-5p	chr8:95444577-95444598

Variant related genes	Relation type
ENSG00000265817	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79346983	chr8:95444400-95444401	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs549737241	chr8:95444436-95444437	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs3136422	chr8:95444582-95444583	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
4	rs193096842	chr8:95444597-95444598	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
5	rs556977816	chr8:95444607-95444608	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570469619	chr8:95444644-95444645	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536357242	chr8:95444714-95444715	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539394238	chr8:95444754-95444755	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565065352	chr8:95444759-95444760	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147698302	chr8:95444933-95444934	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572541899	chr8:95444936-95444937	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556109698	chr8:95444949-95444950	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556672597	chr8:95444953-95444954	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs541714085	chr8:95444966-95444967	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185859044	chr8:95445052-95445053	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs367802047	chr8:95445063-95445064	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576584612	chr8:95445190-95445191	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562488102	chr8:95445204-95445205	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555243542	chr8:95445290-95445291	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs3136421	chr8:95445329-95445330	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs374912226	chr8:95445406-95445407	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544089222	chr8:95445437-95445438	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564574476	chr8:95445443-95445444	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190426869	chr8:95445452-95445453	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs3136420	chr8:95445459-95445460	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs3136419	chr8:95445462-95445463	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs181374885	chr8:95445501-95445502	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs2930962	chr8:95445505-95445506	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184416594	chr8:95445522-95445523	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs531907235	chr8:95445615-95445616	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs551711872	chr8:95445619-95445620	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs3136418	chr8:95445620-95445621	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188415998	chr8:95445627-95445628	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs181281326	chr8:95445658-95445659	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs3136428	chr8:95445660-95445661	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs573631312	chr8:95445787-95445788	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs535089069	chr8:95445836-95445837	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs531433369	chr8:95445848-95445849	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs191187671	chr8:95445875-95445876	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs142392716	chr8:95445886-95445887	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs544523361	chr8:95445892-95445893	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs542378260	chr8:95445904-95445905	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs3136417	chr8:95445908-95445909	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs577807994	chr8:95445917-95445918	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs540366710	chr8:95445920-95445921	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs3136427	chr8:95445930-95445931	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs369744426	chr8:95445937-95445938	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs531570616	chr8:95445994-95445995	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs373167090	chr8:95446147-95446148	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs180892612	chr8:95446162-95446163	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95393200-95447000	Weak transcription	K562	blood
2	chr8:95412200-95447200	Weak transcription	Fetal Thymus	thymus
3	chr8:95416800-95445200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:95429600-95446200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:95430400-95447200	Weak transcription	Fetal Intestine Small	intestine
6	chr8:95430600-95446400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:95430600-95447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:95430600-95447400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:95430800-95446400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:95431000-95445400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:95431000-95446800	Weak transcription	HMEC	breast
12	chr8:95431000-95447400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:95431000-95447400	Weak transcription	HSMM	muscle
14	chr8:95431000-95447400	Weak transcription	NHDF-Ad	bronchial
15	chr8:95431000-95448600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:95431000-95448600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:95432400-95478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:95433600-95446400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:95433800-95444400	Weak transcription	Primary T cells from cord blood	blood
20	chr8:95433800-95447200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:95434000-95447400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:95438200-95447600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:95439000-95445200	Weak transcription	HepG2	liver
24	chr8:95441400-95446400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:95441400-95446400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:95441400-95446400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:95441600-95445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:95441800-95446400	Weak transcription	Brain Germinal Matrix	brain
29	chr8:95441800-95448600	Weak transcription	Hela-S3	cervix
30	chr8:95442000-95447600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:95442200-95447200	Weak transcription	Right Ventricle	heart
32	chr8:95442200-95447200	Weak transcription	HUVEC	blood vessel
33	chr8:95442400-95445200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:95442400-95447200	Weak transcription	Fetal Kidney	kidney
35	chr8:95442600-95465400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:95443000-95444800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:95443000-95445600	Strong transcription	Dnd41	blood
38	chr8:95443200-95444600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:95443200-95445000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr8:95443200-95446000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:95443200-95446400	Weak transcription	Fetal Lung	lung
42	chr8:95443200-95447200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:95443200-95447200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:95443400-95444600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:95443400-95446000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:95443600-95444600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:95443600-95446400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:95443600-95446600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:95443800-95444800	ZNF genes & repeats	GM12878-XiMat	blood
50	chr8:95443800-95445200	Strong transcription	A549	lung

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