Variant report

Variant	esv3431044
Chromosome Location	chr4:104179397-104249650
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:104181685..104183408-chr4:104209717..104212156,2	K562	blood:
2	chr4:104213569..104215673-chr4:104223134..104225892,2	MCF-7	breast:
3	chr4:104180046..104181574-chr4:104181582..104183273,2	K562	blood:
4	chr4:104243719..104245643-chr4:104247001..104248713,2	K562	blood:
5	chr4:104243719..104245643-chr4:104247001..104248713,2	K562	blood:
6	chr4:104213569..104215673-chr4:104223134..104225892,2	MCF-7	breast:
7	chr4:104180046..104181574-chr4:104181582..104183273,2	K562	blood:
8	chr4:104181685..104183408-chr4:104209717..104212156,2	K562	blood:
9	chr4:104117492..104119427-chr4:104178040..104180048,2	K562	blood:
10	chr4:104246786..104248754-chr4:104256476..104258038,2	K562	blood:

No data

Extended variants
information (count: 2017 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:2017 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528756406	chr4:104179431-104179432	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537112050	chr4:104179432-104179433	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11455411	chr4:104179435-104179436	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77779703	chr4:104179450-104179451	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1159713	chr4:104179459-104179460	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182917334	chr4:104179530-104179531	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7686331	chr4:104179541-104179542	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs17033496	chr4:104179569-104179570	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs540003067	chr4:104179574-104179575	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558034363	chr4:104179579-104179580	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146186446	chr4:104179606-104179607	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543462960	chr4:104179664-104179665	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578080730	chr4:104179665-104179666	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561790478	chr4:104179679-104179680	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186320312	chr4:104179713-104179714	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545621921	chr4:104179730-104179731	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117579268	chr4:104179737-104179738	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559574423	chr4:104179775-104179776	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138989763	chr4:104179779-104179780	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149444151	chr4:104179848-104179849	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs191620036	chr4:104179871-104179872	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs530627153	chr4:104179915-104179916	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs557463345	chr4:104179950-104179951	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs17033498	chr4:104179961-104179962	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs534585134	chr4:104179998-104179999	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs116669405	chr4:104180045-104180046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566377670	chr4:104180103-104180104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182494972	chr4:104180164-104180165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574997349	chr4:104180172-104180173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542311404	chr4:104180174-104180175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563896452	chr4:104180189-104180190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144835595	chr4:104180190-104180191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576225431	chr4:104180192-104180193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113340595	chr4:104180209-104180210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555973779	chr4:104180225-104180226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573722647	chr4:104180273-104180274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188013762	chr4:104180277-104180278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559456117	chr4:104180323-104180324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148566845	chr4:104180324-104180325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191499504	chr4:104180341-104180342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544929888	chr4:104180383-104180384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183273624	chr4:104180456-104180457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530717660	chr4:104180493-104180494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28553985	chr4:104180511-104180512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187898225	chr4:104180564-104180565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376545916	chr4:104180568-104180569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546215679	chr4:104180585-104180586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201882372	chr4:104180586-104180587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191985681	chr4:104180594-104180595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546584073	chr4:104180618-104180619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic lymphocytic leukemia	21215367	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104176600-104179800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr4:104177200-104179400	Active TSS	HepG2	liver
3	chr4:104177200-104180000	Active TSS	K562	blood
4	chr4:104177600-104179400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr4:104177800-104179400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr4:104178800-104179800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:104178800-104180400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:104179000-104183000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:104179200-104180200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:104179400-104181000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:104179600-104180000	Enhancers	HepG2	liver
12	chr4:104179800-104180200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:104179800-104180600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:104180200-104180400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:104180400-104180800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:104180600-104181000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:104180800-104183000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:104181000-104183200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:104183000-104183400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:104183000-104183600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:104183200-104183600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:104189600-104193800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:104192600-104192800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:104192600-104193000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:104192800-104193000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:104192800-104200800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:104193000-104193400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:104193000-104194400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:104193000-104194400	Enhancers	HMEC	breast
30	chr4:104193000-104194600	Enhancers	Gastric	stomach
31	chr4:104193400-104193800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr4:104193400-104194200	Enhancers	Pancreas	Pancrea
33	chr4:104193800-104194200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr4:104194200-104194600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr4:104194400-104194600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
36	chr4:104194600-104202600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:104197800-104198200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:104197800-104198200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:104198000-104198200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:104209400-104229400	Weak transcription	Right Atrium	heart
41	chr4:104210200-104210600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr4:104213400-104214400	Enhancers	HMEC	breast
43	chr4:104213600-104213800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:104214200-104214600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:104214600-104214800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr4:104214800-104223800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr4:104215000-104216800	Enhancers	HepG2	liver
48	chr4:104215400-104216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:104215800-104216800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:104216000-104220200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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