Variant report

Variant	esv3401554
Chromosome Location	chr8:1732570-1735418
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:1731117..1733181-chr8:1735872..1737982,3	K562	blood:
2	chr8:1734427..1736636-chr8:1737511..1739234,2	K562	blood:
3	chr8:1730297..1733181-chr8:1733346..1737804,5	K562	blood:
4	chr8:1692732..1694940-chr8:1731254..1732794,2	MCF-7	breast:
5	chr8:1731431..1734296-chr8:1777100..1779564,2	MCF-7	breast:
6	chr8:1732905..1734705-chr8:1740621..1742810,2	K562	blood:
7	chr8:1725864..1728236-chr8:1731701..1733830,2	MCF-7	breast:
8	chr8:1728494..1731142-chr8:1732363..1735530,3	MCF-7	breast:
9	chr8:1712944..1715681-chr8:1734053..1736692,2	K562	blood:
10	chr8:1690830..1693396-chr8:1731671..1734648,2	K562	blood:
11	chr8:1727131..1730202-chr8:1731838..1734952,3	K562	blood:
12	chr8:1710662..1713548-chr8:1734331..1736456,2	MCF-7	breast:
13	chr8:1730297..1733181-chr8:1733346..1737804,5	K562	blood:
14	chr8:1717537..1720996-chr8:1730538..1734244,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253982	chromatin interactions
ENSG00000182372	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7827009	chr8:1732580-1732581	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188005643	chr8:1732599-1732600	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534619432	chr8:1732608-1732609	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568487611	chr8:1732666-1732667	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375047450	chr8:1732667-1732668	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117945019	chr8:1732684-1732685	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557092387	chr8:1732706-1732707	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113413095	chr8:1732724-1732725	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539744801	chr8:1732730-1732731	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7827285	chr8:1732756-1732757	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs145494521	chr8:1732759-1732760	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574601718	chr8:1732783-1732784	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535276198	chr8:1732799-1732800	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557057806	chr8:1732822-1732823	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs575406279	chr8:1732850-1732851	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs146813375	chr8:1732869-1732870	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs563935899	chr8:1732879-1732880	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs545866263	chr8:1732905-1732906	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs368476596	chr8:1732928-1732929	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs533207953	chr8:1732948-1732949	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs78505577	chr8:1732958-1732959	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs560476075	chr8:1732959-1732960	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs564078363	chr8:1732966-1732967	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs371079782	chr8:1732999-1733000	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs529076955	chr8:1733002-1733003	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs572839992	chr8:1733009-1733010	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs541741154	chr8:1733049-1733050	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs118000123	chr8:1733055-1733056	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs192236968	chr8:1733063-1733064	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs550903191	chr8:1733071-1733072	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs530361554	chr8:1733072-1733073	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs542056790	chr8:1733091-1733092	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs563495055	chr8:1733095-1733096	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs553233764	chr8:1733101-1733102	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs566854151	chr8:1733112-1733113	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs117588996	chr8:1733124-1733125	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs555700725	chr8:1733127-1733128	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs575260928	chr8:1733130-1733131	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs537547112	chr8:1733145-1733146	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs184340330	chr8:1733149-1733150	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs577703425	chr8:1733158-1733159	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs139270315	chr8:1733160-1733161	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs140524201	chr8:1733176-1733177	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs150391413	chr8:1733184-1733185	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs138156046	chr8:1733199-1733200	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs116856439	chr8:1733200-1733201	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs542766598	chr8:1733226-1733227	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs149632384	chr8:1733255-1733256	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs55915521	chr8:1733257-1733258	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs146897459	chr8:1733265-1733266	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1713400-1735800	Weak transcription	Fetal Brain Male	brain
2	chr8:1718000-1732800	Weak transcription	Fetal Heart	heart
3	chr8:1718000-1736000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:1718400-1733200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:1721400-1733800	Weak transcription	Hela-S3	cervix
6	chr8:1721600-1732800	Weak transcription	Right Atrium	heart
7	chr8:1721600-1734200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:1721800-1734000	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:1722000-1734000	Weak transcription	Ovary	ovary
10	chr8:1722200-1734400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:1722800-1734200	Weak transcription	Colonic Mucosa	Colon
12	chr8:1724800-1733200	Weak transcription	Brain Germinal Matrix	brain
13	chr8:1725600-1734000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:1726800-1734000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:1728000-1735200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:1728000-1736000	Weak transcription	Psoas Muscle	Psoas
17	chr8:1728200-1732800	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:1728200-1733400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:1728200-1735400	Weak transcription	Small Intestine	intestine
20	chr8:1728200-1735600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:1728400-1732800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:1728400-1733400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:1728800-1733400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:1728800-1734000	Weak transcription	NH-A	brain
25	chr8:1728800-1734000	Weak transcription	NHLF	lung
26	chr8:1729000-1733400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:1729000-1735400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:1729200-1732600	Strong transcription	Adipose Nuclei	Adipose
29	chr8:1729200-1733000	Strong transcription	Fetal Stomach	stomach
30	chr8:1729400-1734200	Weak transcription	Stomach Mucosa	stomach
31	chr8:1729400-1734800	Weak transcription	Fetal Kidney	kidney
32	chr8:1729600-1732800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:1729600-1733000	Strong transcription	Fetal Intestine Small	intestine
34	chr8:1729800-1732800	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr8:1729800-1735000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:1730000-1733000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr8:1730000-1733200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:1730000-1734800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:1730000-1735000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:1730000-1735000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:1730000-1735600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr8:1730200-1733200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:1730200-1733400	Strong transcription	Spleen	Spleen
44	chr8:1730200-1735400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr8:1730600-1732800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr8:1731000-1736200	Weak transcription	GM12878-XiMat	blood
47	chr8:1731200-1732600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:1731200-1733400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:1731200-1734000	Weak transcription	NHDF-Ad	bronchial
50	chr8:1731200-1734400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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