Variant report

Variant	esv1824479
Chromosome Location	chr8:104961899-105032765
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:105017671..105019829-chr8:105023153..105025730,2	K562	blood:
2	chr21:43298446..43300680-chr8:105016509..105018812,2	MCF-7	breast:
3	chr7:104653295..104654961-chr8:105016847..105019762,2	MCF-7	breast:
4	chr15:65595403..65597555-chr8:105009307..105011419,2	MCF-7	breast:
5	chr8:104945753..104947544-chr8:104999072..105000833,2	K562	blood:
6	chr8:105001334..105003003-chr8:105007381..105009092,2	K562	blood:
7	chr8:105017671..105019829-chr8:105023153..105025730,2	K562	blood:
8	chr8:105001334..105003003-chr8:105007381..105009092,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200156	chromatin interactions
ENSG00000141956	chromatin interactions
ENSG00000005483	chromatin interactions
ENSG00000239569	chromatin interactions
ENSG00000228393	chromatin interactions

Extended variants
information (count: 2469 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:2469 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2023030	chr8:104961899-104961900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188662199	chr8:104961930-104961931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115092537	chr8:104962001-104962002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534046930	chr8:104962049-104962050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552425690	chr8:104962064-104962065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192548317	chr8:104962065-104962066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557997744	chr8:104962106-104962107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539013817	chr8:104962129-104962130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72681397	chr8:104962133-104962134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs184226650	chr8:104962215-104962216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536366978	chr8:104962272-104962273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35326607	chr8:104962315-104962316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533175634	chr8:104962334-104962335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149960010	chr8:104962345-104962346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34252490	chr8:104962348-104962349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62527126	chr8:104962361-104962362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs28873475	chr8:104962384-104962385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs565571741	chr8:104962391-104962392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55933208	chr8:104962406-104962407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs532463803	chr8:104962408-104962409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6986875	chr8:104962473-104962474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562120803	chr8:104962503-104962504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562471593	chr8:104962510-104962511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78695749	chr8:104962559-104962560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552687179	chr8:104962567-104962568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537894333	chr8:104962575-104962576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143855710	chr8:104962673-104962674	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186675238	chr8:104962693-104962694	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs56275097	chr8:104962726-104962727	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs372450946	chr8:104962794-104962795	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs552128062	chr8:104962825-104962826	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs570683865	chr8:104962899-104962900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551102435	chr8:104963027-104963028	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs369816496	chr8:104963097-104963098	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375690919	chr8:104963165-104963166	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs77733097	chr8:104963204-104963205	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs538670946	chr8:104963238-104963239	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs191335468	chr8:104963340-104963341	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs13264010	chr8:104963377-104963378	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536279012	chr8:104963396-104963397	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs183920628	chr8:104963438-104963439	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs573050273	chr8:104963464-104963465	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs534396307	chr8:104963470-104963471	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs12156323	chr8:104963476-104963477	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577421648	chr8:104963545-104963546	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs375339704	chr8:104963595-104963596	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs148618217	chr8:104963596-104963597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556161648	chr8:104963607-104963608	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574468952	chr8:104963625-104963626	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116176104	chr8:104963651-104963652	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Sezary syndrome	18413736	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
Developmental delay	21147756	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104948200-104965200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:104951800-104964000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:104952000-104977000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:104955600-104969600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:104959800-104963600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:104960000-104963000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:104960400-104962800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:104960400-104975800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:104960600-104964000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:104960800-104962600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:104960800-104967000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:104960800-104975600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:104961000-104976000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:104962600-104964400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:104962800-104963400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr8:104963000-104963600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:104963000-104964600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:104963400-104963600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:104963400-104966000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:104963600-104963800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:104963600-104964000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:104963600-104964000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:104963600-104964000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr8:104963800-104964200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
25	chr8:104964000-104964200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:104964000-104964800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:104964000-104974800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:104964200-104975800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:104964600-104965800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:104968200-104973200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:104969400-104974800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:104969600-104970000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:104970000-104987600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:104973200-104974200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:104974200-104975400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:104974800-104975000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:104974800-104977600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
38	chr8:104975000-104976200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:104975000-104993600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:104975400-104977800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:104975600-104976400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr8:104975600-104976800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:104975800-104976200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr8:104975800-104977000	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr8:104976000-104977400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
46	chr8:104976000-104977400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
47	chr8:104977000-104977400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:104977000-104978000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
49	chr8:104977400-104989600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:104977400-104991800	Weak transcription	H9 Cell Line	embryonic stem cell

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