Variant report

Variant	esv2754315
Chromosome Location	chr8:113736824-114048824
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:113753759..113755315-chr8:113758540..113760790,2	MCF-7	breast:
2	chr8:113948637..113951504-chr8:113954981..113956955,2	K562	blood:
3	chr3:185653287..185655288-chr8:113877614..113879705,2	MCF-7	breast:
4	chr8:113730328..113732083-chr8:113748434..113750301,2	K562	blood:
5	chr8:113948637..113951504-chr8:113954981..113956955,2	K562	blood:
6	chr8:113774024..113774627-chr8:114390471..114391174,2	MCF-7	breast:
7	chr8:114019427..114021246-chr8:114025016..114027910,2	K562	blood:
8	chr8:113773910..113774788-chr8:114210759..114211408,2	MCF-7	breast:
9	chr8:113882423..113884756-chr8:114016772..114018870,2	K562	blood:
10	chr8:113753759..113755315-chr8:113758540..113760790,2	MCF-7	breast:
11	chr8:113774045..113774707-chr8:114449888..114450422,3	MCF-7	breast:
12	chr8:113773909..113774597-chr8:114183855..114184506,4	MCF-7	breast:
13	chr8:114019427..114021246-chr8:114025016..114027910,2	K562	blood:
14	chr8:113774348..113777140-chr8:114064225..114066718,2	K562	blood:
15	chr8:113982822..113985286-chr8:113988301..113991083,2	K562	blood:
16	chr8:113812991..113814473-chr8:114449636..114450437,5	MCF-7	breast:
17	chr8:113812932..113813631-chr8:114183972..114184626,2	MCF-7	breast:
18	chr8:113813041..113814009-chr8:114183692..114184450,5	MCF-7	breast:
19	chr8:113982822..113985286-chr8:113988301..113991083,2	K562	blood:
20	chr8:113882423..113884756-chr8:114016772..114018870,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136527	chromatin interactions

Extended variants
information (count: 4104 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:4104 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143345533	chr8:113736859-113736860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185738758	chr8:113736873-113736874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559973731	chr8:113736934-113736935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148363845	chr8:113736951-113736952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534268696	chr8:113736973-113736974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568482901	chr8:113736976-113736977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190202074	chr8:113737003-113737004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141855141	chr8:113737049-113737050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556346339	chr8:113737082-113737083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576489167	chr8:113737158-113737159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368768396	chr8:113737160-113737161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561908372	chr8:113737251-113737252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551075161	chr8:113737320-113737321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575941301	chr8:113737376-113737377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs67594301	chr8:113737415-113737416	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541375144	chr8:113737422-113737423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181703221	chr8:113737434-113737435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184078601	chr8:113737476-113737477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549766148	chr8:113737541-113737542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113108187	chr8:113737555-113737556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73700802	chr8:113737562-113737563	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557953804	chr8:113737563-113737564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73702203	chr8:113737570-113737571	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573252661	chr8:113737574-113737575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188741572	chr8:113737651-113737652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534199004	chr8:113737727-113737728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369803820	chr8:113737750-113737751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113352717	chr8:113737753-113737754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553256927	chr8:113737801-113737802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571137648	chr8:113737815-113737816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539409069	chr8:113737836-113737837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147124572	chr8:113737853-113737854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2194597	chr8:113737867-113737868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs35065385	chr8:113737876-113737877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370036066	chr8:113737911-113737912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535787842	chr8:113737975-113737976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555587910	chr8:113737986-113737987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12540989	chr8:113737999-113738000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541251577	chr8:113738000-113738001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564193468	chr8:113738025-113738026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73338152	chr8:113738052-113738053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs112545066	chr8:113738067-113738068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150527425	chr8:113738077-113738078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563343139	chr8:113738142-113738143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528946530	chr8:113738214-113738215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548696040	chr8:113738294-113738295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369995783	chr8:113738326-113738327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565459339	chr8:113738337-113738338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79635617	chr8:113738376-113738377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547978359	chr8:113738384-113738385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	22014070	CNVD
Renal cell carcinoma	21215367	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113736600-113737000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:113736800-113738000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:113737000-113737200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:113737000-113737400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:113737000-113739000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:113737200-113737600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:113737200-113747600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:113739000-113739200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:113739200-113739600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:113739600-113739800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:113739800-113741400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:113741400-113742800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:113742000-113742200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:113742800-113748200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:113744200-113744600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:113747600-113748200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:113747800-113748600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr8:113748200-113748600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:113748200-113748800	Enhancers	Brain Substantia Nigra	brain
20	chr8:113748200-113749200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:113748600-113749000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:113749000-113749200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:113749200-113750400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:113750400-113755800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:113755800-113757200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:113757200-113758200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:113758200-113758600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:113762600-113763200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:113762600-113763400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:113762800-113763600	Enhancers	HMEC	breast
31	chr8:113765600-113766600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:113765800-113767000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:113766200-113767000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:113772200-113773400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr8:113772800-113773000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr8:113772800-113773200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:113772800-113773200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:113772800-113773400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:113772800-113774200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:113772800-113774200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr8:113773000-113773400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:113773000-113773600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr8:113773200-113774400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr8:113773200-113783400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:113773400-113783400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:113773600-113783400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:113774200-113783400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:113774400-113775000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr8:113778800-113779200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr8:113779000-113779200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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