Variant report

Variant	esv3338691
Chromosome Location	chr4:8479502-8482000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:8480935-8481344	K562	blood:	n/a	n/a
2	ATF1	chr4:8480845-8481295	K562	blood:	n/a	n/a
3	ATF3	chr4:8480871-8481309	K562	blood:	n/a	n/a
4	BHLHE40	chr4:8480685-8481485	K562	blood:	n/a	n/a
5	CCNT2	chr4:8480458-8481230	K562	blood:	n/a	n/a
6	CEBPB	chr4:8480894-8481315	K562	blood:	n/a	chr4:8481098-8481109
7	CEBPB	chr4:8480875-8481311	K562	blood:	n/a	chr4:8481098-8481109
8	CEBPB	chr4:8480909-8481222	K562	blood:	n/a	chr4:8481098-8481109
9	CEBPB	chr4:8480954-8481243	HepG2	liver:	n/a	chr4:8481098-8481109
10	CEBPB	chr4:8481050-8481183	H1-hESC	embryonic stem cell:	n/a	chr4:8481098-8481109
11	CEBPB	chr4:8480973-8481252	A549	lung:	n/a	chr4:8481098-8481109
12	CEBPB	chr4:8480931-8481291	IMR90	lung:	n/a	chr4:8481098-8481109
13	CEBPB	chr4:8480970-8481239	Hela-S3	cervix:	n/a	chr4:8481098-8481109
14	CHD2	chr4:8481041-8481287	K562	blood:	n/a	n/a
15	CREB1	chr4:8480937-8481388	K562	blood:	n/a	n/a
16	CUX1	chr4:8480888-8481551	K562	blood:	n/a	n/a
17	E2F6	chr4:8480606-8481481	K562	blood:	n/a	n/a
18	EP300	chr4:8481850-8482048	K562	blood:	n/a	n/a
19	EP300	chr4:8480734-8481524	K562	blood:	n/a	n/a
20	HCFC1	chr4:8480978-8481421	K562	blood:	n/a	n/a
21	HCFC1	chr4:8481990-8482071	K562	blood:	n/a	n/a
22	HEY1	chr4:8481027-8481322	K562	blood:	n/a	n/a
23	HMGN3	chr4:8480483-8481257	K562	blood:	n/a	n/a
24	JUN	chr4:8479875-8481512	K562	blood:	n/a	n/a
25	JUND	chr4:8480730-8481427	K562	blood:	n/a	n/a
26	MAFF	chr4:8480885-8481217	K562	blood:	n/a	n/a
27	MAFK	chr4:8480826-8481415	K562	blood:	n/a	n/a
28	MAX	chr4:8480865-8481465	K562	blood:	n/a	n/a
29	MAX	chr4:8480667-8481546	K562	blood:	n/a	n/a
30	MAZ	chr4:8480737-8481478	K562	blood:	n/a	n/a
31	MYC	chr4:8481006-8481231	K562	blood:	n/a	n/a
32	MYC	chr4:8480845-8481494	K562	blood:	n/a	n/a
33	MYC	chr4:8480892-8481536	K562	blood:	n/a	n/a
34	MYC	chr4:8480688-8481557	K562	blood:	n/a	n/a
35	MYC	chr4:8481133-8481173	MCF-7	breast:	n/a	n/a
36	PML	chr4:8480900-8481235	K562	blood:	n/a	n/a
37	POLR2A	chr4:8480639-8480651	IMR90	lung:	n/a	n/a
38	POLR2A	chr4:8480455-8480476	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr4:8481683-8481803	K562	blood:	n/a	n/a
40	POLR2A	chr4:8480418-8480544	A549	lung:	n/a	n/a
41	POLR2A	chr4:8479786-8480902	HepG2	liver:	n/a	n/a
42	POLR2A	chr4:8480690-8480938	HepG2	liver:	n/a	n/a
43	POLR2A	chr4:8480673-8480686	HepG2	liver:	n/a	n/a
44	POLR2A	chr4:8481184-8481210	GM12878	blood:	n/a	n/a
45	POLR2A	chr4:8480437-8480455	MCF-7	breast:	n/a	n/a
46	POLR2A	chr4:8479181-8480551	K562	blood:	n/a	n/a
47	POLR2A	chr4:8479870-8480945	GM12878	blood:	n/a	n/a
48	POLR2A	chr4:8480078-8481680	K562	blood:	n/a	n/a
49	POLR2A	chr4:8478856-8480731	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr4:8480598-8480623	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8479557..8483754-chr4:8505033..8507334,3	K562	blood:
2	chr4:8481028..8483192-chr4:8493835..8495709,2	K562	blood:
3	chr4:8480343..8482118-chr4:8533933..8535799,2	MCF-7	breast:
4	chr4:8474636..8476895-chr4:8480359..8482946,2	K562	blood:
5	chr4:8473752..8477708-chr4:8479447..8482230,3	K562	blood:
6	chr4:8479058..8480948-chr4:8481115..8485111,3	MCF-7	breast:
7	chr4:8478212..8480998-chr4:8552903..8554781,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205959	TF binding region
ENSG00000205959	chromatin interactions
ENSG00000155275	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 55 )

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	rs563388260	chr4:8479504-8479505	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs531022540	chr4:8479519-8479520	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148274675	chr4:8479568-8479569	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs141239250	chr4:8479575-8479576	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs147410594	chr4:8479641-8479642	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546876349	chr4:8479677-8479678	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568392342	chr4:8479678-8479679	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs3796763	chr4:8479687-8479688	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs200035182	chr4:8479688-8479689	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs536476426	chr4:8479698-8479699	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs373870535	chr4:8479710-8479711	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs2631738	chr4:8479754-8479755	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs371508646	chr4:8479764-8479765	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562800986	chr4:8479816-8479817	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs139117820	chr4:8479876-8479877	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs558748727	chr4:8479882-8479883	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs374982698	chr4:8479897-8479898	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs77033502	chr4:8479900-8479901	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs114965510	chr4:8479932-8479933	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559593208	chr4:8479965-8479966	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs201118251	chr4:8479976-8479977	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs369447239	chr4:8479992-8479993	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs112197548	chr4:8480027-8480028	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs376686855	chr4:8480094-8480095	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs141655658	chr4:8480097-8480098	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374170220	chr4:8480102-8480103	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs544987836	chr4:8480132-8480133	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541769865	chr4:8480169-8480170	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs528537005	chr4:8480188-8480189	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs143145188	chr4:8480199-8480200	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs183190523	chr4:8480245-8480246	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs147455236	chr4:8480246-8480247	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs546785874	chr4:8480268-8480269	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs528642608	chr4:8480279-8480280	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs546937715	chr4:8480330-8480331	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs568431301	chr4:8480332-8480333	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs1106591	chr4:8480339-8480340	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs139278818	chr4:8480342-8480343	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569470558	chr4:8480347-8480348	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs368148595	chr4:8480380-8480381	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs569265247	chr4:8480383-8480384	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs550839280	chr4:8480407-8480408	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs115422481	chr4:8480416-8480417	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs111656846	chr4:8480434-8480435	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs188108268	chr4:8480472-8480473	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs11734212	chr4:8480473-8480474	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs190889876	chr4:8480484-8480485	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs574630500	chr4:8480496-8480497	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs73223254	chr4:8480511-8480512	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs556883051	chr4:8480514-8480515	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8447000-8480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:8447200-8480200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:8447400-8482200	Strong transcription	Primary T cells from cord blood	blood
4	chr4:8465200-8482200	Strong transcription	Brain Germinal Matrix	brain
5	chr4:8465400-8480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:8467600-8482200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:8467800-8480400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:8468400-8479600	Weak transcription	Psoas Muscle	Psoas
9	chr4:8471200-8480600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:8471400-8479600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:8471400-8480200	Weak transcription	HMEC	breast
12	chr4:8471800-8479600	Weak transcription	NHEK	skin
13	chr4:8471800-8480000	Weak transcription	GM12878-XiMat	blood
14	chr4:8471800-8480800	Weak transcription	HepG2	liver
15	chr4:8471800-8483200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:8472000-8480200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr4:8472200-8480800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:8472400-8479800	Weak transcription	Primary B cells from cord blood	blood
19	chr4:8472600-8480000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:8473600-8501400	Weak transcription	Brain Substantia Nigra	brain
21	chr4:8474600-8480600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:8474800-8479800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:8475000-8480200	Weak transcription	K562	blood
24	chr4:8475200-8480000	Weak transcription	HSMM	muscle
25	chr4:8475400-8480400	Strong transcription	Spleen	Spleen
26	chr4:8475600-8481400	Strong transcription	Fetal Brain Female	brain
27	chr4:8475600-8491400	Weak transcription	Aorta	Aorta
28	chr4:8475800-8480200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:8475800-8480400	Weak transcription	Small Intestine	intestine
30	chr4:8475800-8481200	Weak transcription	NHLF	lung
31	chr4:8475800-8491800	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:8476000-8480800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:8476000-8481400	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:8476200-8480600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:8476200-8480600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:8476200-8481800	Strong transcription	Fetal Stomach	stomach
37	chr4:8476400-8480200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:8476400-8481400	Strong transcription	Right Ventricle	heart
39	chr4:8476600-8481200	Genic enhancers	Placenta	Placenta
40	chr4:8476600-8481400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:8476600-8481400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:8476600-8481400	Strong transcription	Lung	lung
43	chr4:8476600-8481800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr4:8476800-8479600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:8476800-8479600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:8476800-8479600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr4:8476800-8479600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:8476800-8479600	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr4:8476800-8480000	Strong transcription	Gastric	stomach
50	chr4:8476800-8480200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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