Variant report

Variant	esv18220
Chromosome Location	chr8:103288097-103288853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr8:103288396-103288403	GM12878	blood:	n/a	n/a
2	CTCF	chr8:103288600-103288750	NHLF	lung:	n/a	n/a
3	CTCF	chr8:103288280-103288430	NHDF-neo	bronchial:	n/a	n/a
4	MAFF	chr8:103288826-103288859	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:103288821-103288879	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:103288222-103288796	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:103288157-103288890	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103249898..103252019-chr8:103287250..103289010,2	MCF-7	breast:
2	chr8:103286886..103288922-chr8:103301773..103304069,2	MCF-7	breast:
3	chr8:103283887..103286372-chr8:103287473..103290307,2	K562	blood:

No data

Variant related genes	Relation type
UBR5	TF binding region
ENSG00000048392	chromatin interactions
ENSG00000104517	chromatin interactions
ENSG00000246263	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75315137	chr8:103288104-103288105	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs2247235	chr8:103288154-103288155	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567798170	chr8:103288194-103288195	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs578165641	chr8:103288205-103288206	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs546007639	chr8:103288274-103288275	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs28607273	chr8:103288286-103288287	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs557708891	chr8:103288304-103288305	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs2853238	chr8:103288343-103288344	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs543356040	chr8:103288346-103288347	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs561685698	chr8:103288347-103288348	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs182634395	chr8:103288355-103288356	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs540696513	chr8:103288375-103288376	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs139028385	chr8:103288395-103288396	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs560913384	chr8:103288401-103288402	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs532897769	chr8:103288420-103288421	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs187007042	chr8:103288471-103288472	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs61179172	chr8:103288475-103288476	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531185647	chr8:103288489-103288490	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs549419185	chr8:103288516-103288517	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs145039781	chr8:103288536-103288537	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs147154180	chr8:103288541-103288542	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs3018532	chr8:103288563-103288564	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs368246198	chr8:103288571-103288572	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs538803104	chr8:103288595-103288596	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs192173966	chr8:103288646-103288647	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs576167484	chr8:103288647-103288648	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs144791170	chr8:103288651-103288652	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs555394774	chr8:103288655-103288656	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs562493129	chr8:103288698-103288699	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs573625993	chr8:103288699-103288700	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs540607965	chr8:103288739-103288740	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs145806768	chr8:103288790-103288791	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs570379796	chr8:103288830-103288831	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs60142605	chr8:103288836-103288837	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189128036	chr8:103288842-103288843	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Autism	22495309	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22844521	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103252200-103292800	Weak transcription	Gastric	stomach
2	chr8:103252200-103318800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:103252400-103292400	Weak transcription	Psoas Muscle	Psoas
4	chr8:103256000-103299000	Strong transcription	Primary B cells from peripheral blood	blood
5	chr8:103256000-103299000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:103256000-103299600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr8:103256200-103299600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr8:103257400-103299400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:103262400-103299400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:103262600-103288200	Strong transcription	GM12878-XiMat	blood
11	chr8:103262600-103299600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:103262600-103329800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:103262800-103296000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:103262800-103299600	Strong transcription	HSMM	muscle
15	chr8:103263000-103294000	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:103263000-103299000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:103263000-103299000	Strong transcription	Liver	Liver
18	chr8:103263000-103299000	Strong transcription	Fetal Thymus	thymus
19	chr8:103263200-103292800	Strong transcription	Placenta	Placenta
20	chr8:103263200-103298800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr8:103263400-103295600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr8:103263400-103298200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:103263400-103299000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:103263400-103299000	Strong transcription	Dnd41	blood
25	chr8:103263400-103327800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:103263400-103327800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:103264000-103299000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:103264200-103299000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr8:103264800-103298800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr8:103266200-103299400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:103266800-103329000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:103267400-103327800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:103267400-103329000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:103267600-103327800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:103268000-103327200	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr8:103268200-103298400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:103268200-103327600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:103268200-103328000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:103268800-103308400	Strong transcription	Fetal Muscle Leg	muscle
40	chr8:103269400-103293800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr8:103269400-103299200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:103270200-103292800	Weak transcription	Fetal Heart	heart
43	chr8:103270200-103293800	Strong transcription	A549	lung
44	chr8:103271800-103294400	Strong transcription	Left Ventricle	heart
45	chr8:103272800-103297000	Weak transcription	Small Intestine	intestine
46	chr8:103274000-103289200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:103275800-103294600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:103275800-103299600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr8:103277200-103294200	Strong transcription	K562	blood
50	chr8:103277400-103293000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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