Variant report

Variant	esv3422938
Chromosome Location	chr5:177674596-177677094
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177665861..177669287-chr5:177672890..177677511,4	MCF-7	breast:
2	chr5:177663620..177664167-chr5:177676965..177677513,2	MCF-7	breast:
3	chr5:177674663..177677489-chr5:177694652..177697569,3	K562	blood:
4	chr5:177673184..177676409-chr5:177679568..177684017,5	K562	blood:
5	chr5:177667122..177671581-chr5:177672725..177675759,6	K562	blood:
6	chr5:177543150..177544003-chr5:177676886..177677587,2	MCF-7	breast:
7	chr5:177675640..177677996-chr5:177730945..177733479,2	K562	blood:
8	chr5:177674781..177677713-chr5:177688724..177690382,2	MCF-7	breast:
9	chr5:177671586..177674457-chr5:177675153..177677148,2	MCF-7	breast:
10	chr5:177676650..177677786-chr5:177737259..177738171,4	MCF-7	breast:
11	chr5:177637291..177640571-chr5:177674983..177676979,3	K562	blood:
12	chr5:177664512..177669563-chr5:177672713..177676620,5	K562	blood:

No data

Extended variants
information (count: 138 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565178164	chr5:177674603-177674604	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs544175624	chr5:177674617-177674618	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs562803521	chr5:177674671-177674672	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs575583155	chr5:177674681-177674682	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs10036819	chr5:177674686-177674687	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs374284253	chr5:177674698-177674699	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs542021165	chr5:177674723-177674724	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs370109953	chr5:177674743-177674744	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs373549007	chr5:177674767-177674768	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs78984764	chr5:177674779-177674780	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs536306999	chr5:177674780-177674781	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs200034990	chr5:177674785-177674786	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs547148502	chr5:177674800-177674801	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs200475672	chr5:177674821-177674822	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs199761348	chr5:177674824-177674825	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs373149786	chr5:177674835-177674836	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs201872854	chr5:177674837-177674838	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs377585635	chr5:177674844-177674845	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs537101470	chr5:177674887-177674888	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs370402757	chr5:177674888-177674889	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs550948985	chr5:177674894-177674895	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs569545792	chr5:177674902-177674903	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs536411938	chr5:177674917-177674918	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs554764519	chr5:177674930-177674931	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs566753970	chr5:177674938-177674939	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs11746830	chr5:177674995-177674996	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs558277055	chr5:177675026-177675027	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs140421388	chr5:177675030-177675031	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs150343336	chr5:177675118-177675119	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs201113695	chr5:177675163-177675164	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs2913852	chr5:177675174-177675175	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs184631227	chr5:177675180-177675181	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs111981167	chr5:177675185-177675186	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs201886177	chr5:177675193-177675194	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs374620212	chr5:177675202-177675203	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs2913851	chr5:177675217-177675218	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs188226394	chr5:177675222-177675223	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs200471849	chr5:177675223-177675224	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs111363480	chr5:177675264-177675265	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs374679924	chr5:177675273-177675274	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs368049371	chr5:177675289-177675290	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs200248352	chr5:177675407-177675408	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs181784413	chr5:177675417-177675418	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs550968940	chr5:177675427-177675428	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs569421673	chr5:177675459-177675460	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs530400337	chr5:177675463-177675464	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs6894255	chr5:177675465-177675466	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs566719008	chr5:177675467-177675468	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs2973755	chr5:177675493-177675494	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs551814995	chr5:177675495-177675496	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177662200-177674800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:177666400-177675800	Weak transcription	Esophagus	oesophagus
3	chr5:177668400-177674600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:177668600-177674600	Weak transcription	Thymus	Thymus
5	chr5:177669000-177676000	Weak transcription	GM12878-XiMat	blood
6	chr5:177669200-177674800	Weak transcription	Primary B cells from cord blood	blood
7	chr5:177669200-177677000	Weak transcription	Right Atrium	heart
8	chr5:177669400-177674800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr5:177669600-177676200	Weak transcription	Liver	Liver
10	chr5:177669800-177674600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:177669800-177699200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:177670000-177675600	Weak transcription	Spleen	Spleen
13	chr5:177670000-177679200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:177671800-177675600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr5:177672800-177676000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:177673000-177676000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr5:177673400-177676000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:177673400-177676200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr5:177673400-177677800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:177673400-177678000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr5:177673400-177678000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:177673800-177677400	Enhancers	Fetal Thymus	thymus
23	chr5:177674000-177681200	Weak transcription	Fetal Stomach	stomach
24	chr5:177674000-177682400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:177674200-177675600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:177674200-177677600	Enhancers	Primary B cells from peripheral blood	blood
27	chr5:177674400-177674600	Enhancers	Colonic Mucosa	Colon
28	chr5:177674400-177675000	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr5:177674400-177677600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:177674400-177689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:177674600-177674800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr5:177674600-177675200	Enhancers	Thymus	Thymus
33	chr5:177674600-177676000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr5:177674600-177677400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr5:177674600-177677800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr5:177674800-177675200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:177674800-177675600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr5:177674800-177676000	Enhancers	Primary B cells from cord blood	blood
39	chr5:177674800-177677200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr5:177674800-177677600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:177675000-177675200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:177675000-177675400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:177675000-177675400	Enhancers	Fetal Muscle Leg	muscle
44	chr5:177675200-177676000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:177675200-177677000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:177675400-177677200	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:177675400-177677600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr5:177675600-177676400	Enhancers	Spleen	Spleen
49	chr5:177675600-177677200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr5:177675600-177677600	Enhancers	Primary T helper cells fromperipheralblood	blood

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