Variant report

Variant	esv3406683
Chromosome Location	chr4:20714554-20718752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:20717531-20717757	MCF10A-Er-Src	breast:	n/a	n/a
2	SP1	chr4:20715925-20716184	HepG2	liver:	n/a	n/a
3	STAT3	chr4:20714714-20714854	MCF10A-Er-Src	breast:	n/a	n/a
4	ZBTB33	chr4:20716001-20716231	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20699912..20701731-chr4:20714831..20716673,2	K562	blood:

Variant related genes	Relation type
PACRGL	TF binding region

Extended variants
information (count: 234 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369127231	chr4:20714557-20714558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201793641	chr4:20714588-20714589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531048426	chr4:20714591-20714592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3764964	chr4:20714642-20714643	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs538301736	chr4:20714651-20714652	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs3764965	chr4:20714653-20714654	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs574936549	chr4:20714657-20714658	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs3764966	chr4:20714684-20714685	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561272160	chr4:20714698-20714699	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs573024534	chr4:20714705-20714706	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs540423690	chr4:20714710-20714711	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs76626420	chr4:20714714-20714715	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs3764967	chr4:20714719-20714720	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569703634	chr4:20714747-20714748	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs143159419	chr4:20714753-20714754	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs562221574	chr4:20714762-20714763	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs529673651	chr4:20714764-20714765	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs12331962	chr4:20714769-20714770	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs3815872	chr4:20714788-20714789	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534181275	chr4:20714812-20714813	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs552747222	chr4:20714827-20714828	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs571000955	chr4:20714834-20714835	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs372007011	chr4:20714862-20714863	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs538440630	chr4:20714874-20714875	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs556724378	chr4:20714886-20714887	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs574972844	chr4:20714907-20714908	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs12331966	chr4:20714924-20714925	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs569083774	chr4:20714946-20714947	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs148284824	chr4:20714949-20714950	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs556623009	chr4:20714952-20714953	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs573099667	chr4:20714977-20714978	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs368991028	chr4:20715015-20715016	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs373467968	chr4:20715026-20715027	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs376463363	chr4:20715027-20715028	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs371298912	chr4:20715038-20715039	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs373074413	chr4:20715062-20715063	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs150745546	chr4:20715106-20715107	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs371117257	chr4:20715114-20715115	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs183601092	chr4:20715115-20715116	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs367817884	chr4:20715119-20715120	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs370151568	chr4:20715120-20715121	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs576654808	chr4:20715136-20715137	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs188440053	chr4:20715138-20715139	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs139070230	chr4:20715142-20715143	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs145119411	chr4:20715151-20715152	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs548171843	chr4:20715163-20715164	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs367968114	chr4:20715183-20715184	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs372493610	chr4:20715187-20715188	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs73240290	chr4:20715189-20715190	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs201014342	chr4:20715194-20715195	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20702400-20722600	Weak transcription	Spleen	Spleen
2	chr4:20702600-20717200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:20703000-20717200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:20703000-20717400	Weak transcription	Fetal Heart	heart
5	chr4:20703000-20721800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:20703000-20722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:20703000-20741400	Weak transcription	Stomach Mucosa	stomach
8	chr4:20703200-20715000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:20703200-20722800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:20703200-20741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:20703400-20722800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:20703400-20722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:20703400-20723600	Weak transcription	Pancreas	Pancrea
14	chr4:20703400-20724000	Weak transcription	A549	lung
15	chr4:20703600-20715000	Weak transcription	Ovary	ovary
16	chr4:20703600-20716200	Weak transcription	Hela-S3	cervix
17	chr4:20703600-20717200	Weak transcription	Brain Germinal Matrix	brain
18	chr4:20703800-20714800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:20705000-20718200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:20705400-20718200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:20705600-20715400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:20706000-20715200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:20706000-20715400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:20706000-20717400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:20706200-20715200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:20706200-20715400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr4:20706200-20715600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:20706200-20715600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:20706600-20722600	Weak transcription	Gastric	stomach
30	chr4:20706800-20738600	Weak transcription	Psoas Muscle	Psoas
31	chr4:20707200-20714600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:20707200-20714600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:20707200-20714800	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:20707200-20716800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:20707200-20717400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:20707200-20717400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:20707200-20722800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:20707200-20722800	Weak transcription	Thymus	Thymus
39	chr4:20707200-20723200	Weak transcription	Esophagus	oesophagus
40	chr4:20707200-20723400	Weak transcription	Colonic Mucosa	Colon
41	chr4:20707200-20724000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:20707200-20739400	Weak transcription	HepG2	liver
43	chr4:20707400-20714600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr4:20707400-20717200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr4:20707400-20722600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr4:20707600-20717200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr4:20707600-20717200	Weak transcription	Left Ventricle	heart
48	chr4:20707600-20717200	Weak transcription	Lung	lung
49	chr4:20707600-20717200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr4:20707600-20717400	Weak transcription	HSMMtube	muscle

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