Variant report

Variant	esv2764076
Chromosome Location	chr8:103719596-103729209
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103728137..103730648-chr8:103739686..103741368,2	MCF-7	breast:
2	chr8:103728869..103730949-chr8:103820340..103823063,2	MCF-7	breast:
3	chr8:103723398..103725039-chr8:103816927..103818427,2	MCF-7	breast:
4	chr8:103722346..103725936-chr8:103727118..103730483,4	MCF-7	breast:
5	chr17:39568250..39571054-chr8:103727034..103729511,2	MCF-7	breast:
6	chr8:103724627..103726716-chr8:103817998..103821829,3	MCF-7	breast:
7	chr8:103666641..103669163-chr8:103717327..103720317,3	MCF-7	breast:
8	chr8:103666605..103670321-chr8:103721192..103725237,7	MCF-7	breast:
9	chr8:103728701..103730461-chr8:103733855..103737197,3	MCF-7	breast:
10	chr8:103725181..103726869-chr8:103817366..103820357,2	MCF-7	breast:
11	chr8:103719078..103722031-chr8:103723688..103726019,2	MCF-7	breast:
12	chr8:103664415..103670172-chr8:103727152..103730542,7	MCF-7	breast:
13	chr8:103722346..103725936-chr8:103727118..103730483,4	MCF-7	breast:
14	chr8:103725029..103726872-chr8:103728215..103730220,2	K562	blood:
15	chr8:103729046..103731484-chr8:103733329..103735923,3	MCF-7	breast:
16	chr8:103699466..103701294-chr8:103718183..103720042,2	MCF-7	breast:
17	chr8:103721548..103724506-chr8:103725385..103726893,2	MCF-7	breast:
18	chr8:103729020..103731875-chr8:103736686..103738865,2	K562	blood:
19	chr8:103721548..103724506-chr8:103725385..103726893,2	MCF-7	breast:
20	chr8:103714684..103716234-chr8:103723186..103724695,2	MCF-7	breast:
21	chr8:103723648..103727078-chr8:103749495..103752302,3	MCF-7	breast:
22	chr8:103725029..103726872-chr8:103728215..103730220,2	K562	blood:
23	chr8:103719078..103722031-chr8:103723688..103726019,2	MCF-7	breast:
24	chr8:103666685..103668584-chr8:103721436..103722966,2	MCF-7	breast:
25	chr8:103728412..103729988-chr8:103738738..103740812,2	MCF-7	breast:
26	chr8:103727672..103730639-chr8:103766988..103768842,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155090	chromatin interactions
ENSG00000250684	chromatin interactions
ENSG00000253669	chromatin interactions

Extended variants
information (count: 404 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570527736	chr8:103719614-103719615	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs538018754	chr8:103719632-103719633	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs60113460	chr8:103719635-103719636	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568356052	chr8:103719675-103719676	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs185564206	chr8:103719697-103719698	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535492978	chr8:103719702-103719703	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567403668	chr8:103719723-103719724	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs553754062	chr8:103719733-103719734	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs375971322	chr8:103719754-103719755	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535957567	chr8:103719861-103719862	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs558350222	chr8:103719888-103719889	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs576588227	chr8:103719906-103719907	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543593415	chr8:103719909-103719910	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574991249	chr8:103719962-103719963	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs190278280	chr8:103719973-103719974	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs573991279	chr8:103719985-103719986	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs541036695	chr8:103720013-103720014	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559454024	chr8:103720020-103720021	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs369452029	chr8:103720038-103720039	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs13248825	chr8:103720040-103720041	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576713214	chr8:103720086-103720087	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs139333110	chr8:103720119-103720120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs563789874	chr8:103720120-103720121	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143344523	chr8:103720121-103720122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537550247	chr8:103720122-103720123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568363473	chr8:103720129-103720130	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs180674744	chr8:103720164-103720165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547383564	chr8:103720172-103720173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs13249179	chr8:103720185-103720186	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs62523325	chr8:103720238-103720239	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs147542264	chr8:103720254-103720255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569722683	chr8:103720291-103720292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs7002590	chr8:103720341-103720342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs4734062	chr8:103720436-103720437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs574009960	chr8:103720440-103720441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4734063	chr8:103720486-103720487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574732846	chr8:103720493-103720494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543551879	chr8:103720503-103720504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371617967	chr8:103720533-103720534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367653925	chr8:103720564-103720565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553609278	chr8:103720609-103720610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185934780	chr8:103720610-103720611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561404392	chr8:103720614-103720615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545378778	chr8:103720621-103720622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373306581	chr8:103720665-103720666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563411575	chr8:103720709-103720710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191177486	chr8:103720719-103720720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530982945	chr8:103720727-103720728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543649652	chr8:103720776-103720777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528944068	chr8:103720785-103720786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
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
Bladder cancer	21909424	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103713200-103733600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:103719200-103721600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:103722800-103723000	Enhancers	A549	lung
4	chr8:103723000-103723200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:103723000-103723400	Flanking Active TSS	A549	lung
6	chr8:103723000-103723600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:103723000-103723600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:103723000-103723600	Enhancers	NHDF-Ad	bronchial
9	chr8:103723000-103723600	Enhancers	NHEK	skin
10	chr8:103723400-103723800	Enhancers	A549	lung
11	chr8:103723600-103733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:103724800-103725200	Enhancers	Fetal Thymus	thymus
13	chr8:103724800-103725400	Enhancers	Lung	lung
14	chr8:103724800-103725600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:103724800-103725600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:103724800-103725800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr8:103725000-103725200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:103725200-103729000	Weak transcription	Fetal Thymus	thymus
19	chr8:103725600-103728400	Weak transcription	Lung	lung
20	chr8:103725600-103728400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:103727600-103730200	Enhancers	Placenta	Placenta
22	chr8:103728200-103729400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr8:103728400-103728600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr8:103728400-103728800	Enhancers	Esophagus	oesophagus
25	chr8:103728400-103729000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:103728400-103729200	Enhancers	Lung	lung
27	chr8:103728400-103729200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr8:103728400-103729400	Enhancers	NHEK	skin
29	chr8:103728600-103729000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:103728600-103729000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr8:103728600-103729200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:103728600-103729200	Enhancers	Psoas Muscle	Psoas
33	chr8:103728800-103733600	Weak transcription	Esophagus	oesophagus
34	chr8:103729000-103729200	Enhancers	Fetal Thymus	thymus
35	chr8:103729000-103729200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:103729000-103729200	Enhancers	HMEC	breast
37	chr8:103729000-103729400	Enhancers	Stomach Mucosa	stomach
38	chr8:103729000-103729800	Weak transcription	Thymus	Thymus
39	chr8:103729000-103730400	Enhancers	K562	blood
40	chr8:103729000-103731400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:103729000-103733200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:103729200-103733600	Weak transcription	Placenta Amnion	Placenta Amnion

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