Variant report

Variant	esv2346656
Chromosome Location	chr4:7145967-7149932
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7144865..7147478-chr4:7149744..7152047,2	MCF-7	breast:
2	chr4:7141966..7143676-chr4:7149053..7151015,2	MCF-7	breast:
3	chr4:7139362..7141199-chr4:7148526..7151413,2	K562	blood:
4	chr4:7065183..7066840-chr4:7144883..7146561,2	MCF-7	breast:
5	chr4:7139914..7141449-chr4:7146735..7149339,2	MCF-7	breast:
6	chr4:7144865..7147478-chr4:7149744..7152047,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRPEL1-6	chr4:7147330-7147371	l_2594_chr4:7147195-7156005_prostate
2	lnc-GRPEL1-6	chr4:7147196-7147328	l_2594_chr4:7147195-7156005_prostate

No data

Variant related genes	Relation type
ENSG00000109519	chromatin interactions

Extended variants
information (count: 211 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:211 , 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	rs562932805	chr4:7145973-7145974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534510154	chr4:7145978-7145979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546799675	chr4:7145981-7145982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546923591	chr4:7145995-7145996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs4689070	chr4:7146002-7146003	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186666092	chr4:7146018-7146019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs144861243	chr4:7146020-7146021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs4689071	chr4:7146033-7146034	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575659566	chr4:7146085-7146086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539827060	chr4:7146091-7146092	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs34631218	chr4:7146132-7146133	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557959620	chr4:7146141-7146142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192730814	chr4:7146148-7146149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs28425208	chr4:7146149-7146150	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561981801	chr4:7146172-7146173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115274085	chr4:7146187-7146188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368757256	chr4:7146249-7146250	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184707652	chr4:7146250-7146251	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562846028	chr4:7146300-7146301	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530385432	chr4:7146312-7146313	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552192500	chr4:7146314-7146315	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111571068	chr4:7146323-7146324	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113111932	chr4:7146324-7146325	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs79465020	chr4:7146350-7146351	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs371941701	chr4:7146390-7146391	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs77719819	chr4:7146465-7146466	Enhancers Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535649117	chr4:7146469-7146470	Enhancers Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550851587	chr4:7146491-7146492	Enhancers Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569212543	chr4:7146500-7146501	Enhancers Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147151285	chr4:7146510-7146511	Enhancers Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539445632	chr4:7146566-7146567	Enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs371001323	chr4:7146578-7146579	Enhancers Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs148274074	chr4:7146655-7146656	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573243659	chr4:7146671-7146672	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534267217	chr4:7146693-7146694	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555465346	chr4:7146704-7146705	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374967576	chr4:7146720-7146721	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544411342	chr4:7146738-7146739	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562833377	chr4:7146749-7146750	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578229848	chr4:7146769-7146770	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575005604	chr4:7146771-7146772	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190185156	chr4:7146776-7146777	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528094723	chr4:7146797-7146798	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542415959	chr4:7146809-7146810	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141243880	chr4:7146866-7146867	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561776314	chr4:7146911-7146912	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79179250	chr4:7146923-7146924	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560500288	chr4:7146928-7146929	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569034149	chr4:7146954-7146955	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375371235	chr4:7146965-7146966	Enhancers Strong transcription Weak transcription	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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7105800-7176000	Weak transcription	Right Atrium	heart
2	chr4:7142400-7147000	Weak transcription	Fetal Intestine Large	intestine
3	chr4:7143200-7146400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:7143200-7146400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:7143400-7147000	Weak transcription	Spleen	Spleen
6	chr4:7143600-7146200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:7145400-7146400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:7146200-7147600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:7146400-7146600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:7146400-7147200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:7146400-7147400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr4:7146400-7150400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:7147000-7147600	Enhancers	Spleen	Spleen
14	chr4:7147000-7148000	Enhancers	Fetal Intestine Large	intestine
15	chr4:7147400-7148000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr4:7147600-7147800	Bivalent Enhancer	HepG2	liver
17	chr4:7147600-7148800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:7147800-7148000	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr4:7148200-7148400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:7148400-7149600	Bivalent Enhancer	Fetal Stomach	stomach
21	chr4:7148400-7151400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:7148600-7149600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr4:7148800-7149200	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr4:7148800-7150400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:7149000-7149600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:7149200-7149800	Enhancers	Fetal Muscle Leg	muscle
27	chr4:7149800-7151000	Weak transcription	Fetal Muscle Leg	muscle

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