Variant report

Variant	esv993203
Chromosome Location	chr4:7218366-7224481
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7222332..7224319-chr4:7228549..7231092,2	K562	blood:
2	chr4:7213265..7217793-chr4:7218088..7221480,5	MCF-7	breast:
3	chr4:7221845..7224931-chr4:7225932..7229288,3	MCF-7	breast:
4	chr4:7206601..7211968-chr4:7218042..7220956,6	MCF-7	breast:
5	chr4:7221313..7223378-chr4:7286434..7289285,2	MCF-7	breast:
6	chr4:7194397..7197077-chr4:7223002..7225801,2	MCF-7	breast:
7	chr4:7195064..7196941-chr4:7218562..7221333,2	MCF-7	breast:
8	chr4:7222332..7226534-chr4:7227411..7230049,3	K562	blood:
9	chr4:7218044..7221709-chr4:7224242..7227434,3	MCF-7	breast:
10	chr4:7221957..7224622-chr4:7226815..7228448,2	MCF-7	breast:
11	chr4:7218044..7221709-chr4:7224242..7227434,3	MCF-7	breast:

No data

Extended variants
information (count: 372 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531184746	chr4:7218371-7218372	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552611029	chr4:7218372-7218373	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115749924	chr4:7218373-7218374	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532038204	chr4:7218386-7218387	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547452639	chr4:7218419-7218420	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs28584625	chr4:7218452-7218453	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs148268521	chr4:7218458-7218459	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs141375701	chr4:7218494-7218495	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs188884144	chr4:7218506-7218507	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs569863787	chr4:7218516-7218517	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs182590695	chr4:7218563-7218564	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs558603281	chr4:7218579-7218580	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs13119783	chr4:7218580-7218581	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs187132648	chr4:7218584-7218585	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs553423401	chr4:7218609-7218610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150770374	chr4:7218626-7218627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139346084	chr4:7218644-7218645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs36166384	chr4:7218657-7218658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556255891	chr4:7218662-7218663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563836957	chr4:7218665-7218666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375826001	chr4:7218672-7218673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7654166	chr4:7218677-7218678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55742312	chr4:7218683-7218684	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs13121510	chr4:7218684-7218685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369289491	chr4:7218685-7218686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564659699	chr4:7218694-7218695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532122131	chr4:7218695-7218696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547121136	chr4:7218696-7218697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558924257	chr4:7218701-7218702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529698095	chr4:7218704-7218705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368843256	chr4:7218713-7218714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13101851	chr4:7218714-7218715	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs28670128	chr4:7218719-7218720	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs386671176	chr4:7218737-7218738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56211441	chr4:7218738-7218739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373049181	chr4:7218743-7218744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189572761	chr4:7218745-7218746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386671177	chr4:7218746-7218747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552433944	chr4:7218749-7218750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7699292	chr4:7218750-7218751	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559870056	chr4:7218762-7218763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527592578	chr4:7218763-7218764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199515570	chr4:7218776-7218777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553046280	chr4:7218777-7218778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574896052	chr4:7218824-7218825	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs535923128	chr4:7218832-7218833	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs557516467	chr4:7218833-7218834	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs575890888	chr4:7218886-7218887	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs34413849	chr4:7218912-7218913	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs546120186	chr4:7218927-7218928	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7210400-7222400	Weak transcription	Brain Anterior Caudate	brain
2	chr4:7210800-7218600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:7212800-7225400	Weak transcription	Ovary	ovary
4	chr4:7214200-7219200	Weak transcription	Gastric	stomach
5	chr4:7216200-7219000	Weak transcription	Esophagus	oesophagus
6	chr4:7216600-7219000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:7216600-7228600	Weak transcription	Right Atrium	heart
8	chr4:7216800-7219200	Weak transcription	Fetal Stomach	stomach
9	chr4:7216800-7227200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:7217800-7218600	Enhancers	Brain Substantia Nigra	brain
11	chr4:7218000-7218600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:7218000-7219000	Enhancers	Hela-S3	cervix
13	chr4:7218000-7220400	Enhancers	HSMMtube	muscle
14	chr4:7218000-7221000	Enhancers	Liver	Liver
15	chr4:7218200-7219000	Enhancers	A549	lung
16	chr4:7218400-7219800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:7218600-7219600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:7218600-7220600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:7218600-7220800	Enhancers	Lung	lung
20	chr4:7218600-7228600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:7218800-7219600	Enhancers	Fetal Muscle Leg	muscle
22	chr4:7218800-7219800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:7218800-7219800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:7218800-7219800	Enhancers	Colonic Mucosa	Colon
25	chr4:7218800-7219800	Enhancers	HMEC	breast
26	chr4:7218800-7220000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr4:7218800-7221800	Enhancers	HSMM	muscle
28	chr4:7219000-7219800	Enhancers	Esophagus	oesophagus
29	chr4:7219000-7219800	Enhancers	NHEK	skin
30	chr4:7219000-7220000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:7219000-7220000	Enhancers	Brain Cingulate Gyrus	brain
32	chr4:7219000-7220000	Flanking Active TSS	Hela-S3	cervix
33	chr4:7219000-7220200	Flanking Active TSS	A549	lung
34	chr4:7219200-7219800	Enhancers	Gastric	stomach
35	chr4:7219200-7220000	Enhancers	Fetal Stomach	stomach
36	chr4:7219200-7220000	Enhancers	Stomach Mucosa	stomach
37	chr4:7219200-7220200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:7219200-7220800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:7219200-7220800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:7219400-7219600	Enhancers	Right Ventricle	heart
41	chr4:7219400-7219800	Enhancers	Fetal Intestine Small	intestine
42	chr4:7219400-7220000	Enhancers	NH-A	brain
43	chr4:7219400-7220600	Enhancers	Pancreas	Pancrea
44	chr4:7219600-7219800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr4:7219600-7219800	Enhancers	Fetal Brain Female	brain
46	chr4:7219600-7219800	Bivalent Enhancer	Placenta	Placenta
47	chr4:7219600-7220000	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr4:7219600-7220000	Enhancers	HepG2	liver
49	chr4:7219600-7220600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr4:7219600-7220800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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