Variant report

Variant	esv2763337
Chromosome Location	chr4:7807183-7811303
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:1)
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	chr4:7806581..7808350-chr4:8014117..8016969,2	MCF-7	breast:
2	chr4:7803065..7805141-chr4:7807691..7809396,2	K562	blood:
3	chr4:7773384..7775813-chr4:7806131..7807839,2	MCF-7	breast:
4	chr4:7803065..7804892-chr4:7807691..7809470,2	K562	blood:
5	chr4:7807226..7807954-chr4:7930533..7931051,2	K562	blood:
6	chr4:7807434..7808952-chr4:8000439..8002438,2	MCF-7	breast:
7	chr4:7805604..7807190-chr4:7845615..7846654,7	MCF-7	breast:
8	chr4:7806783..7809609-chr4:7939273..7941651,3	MCF-7	breast:
9	chr4:7808655..7810334-chr4:7810904..7813896,2	MCF-7	breast:
10	chr16:89626684..89629192-chr4:7810790..7812508,2	MCF-7	breast:
11	chr4:7808655..7810334-chr4:7810904..7813896,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SORCS2-2	chr4:7809374-7809715	NONHSAT095066

No data

Variant related genes	Relation type
ENSG00000200084	chromatin interactions
ENSG00000228919	chromatin interactions
ENSG00000167526	chromatin interactions

Extended variants
information (count: 234 )
Associated
traits (count: 52 )

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	rs544348246	chr4:7807187-7807188	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs562635311	chr4:7807194-7807195	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11728415	chr4:7807196-7807197	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs58457272	chr4:7807219-7807220	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs144195011	chr4:7807220-7807221	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570299894	chr4:7807276-7807277	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527936094	chr4:7807288-7807289	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185400724	chr4:7807316-7807317	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs151027195	chr4:7807317-7807318	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531922799	chr4:7807340-7807341	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs140947442	chr4:7807356-7807357	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372026013	chr4:7807364-7807365	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568950910	chr4:7807373-7807374	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539461188	chr4:7807381-7807382	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149839196	chr4:7807439-7807440	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374513028	chr4:7807456-7807457	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368790613	chr4:7807494-7807495	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566768084	chr4:7807501-7807502	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537124236	chr4:7807520-7807521	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs533800696	chr4:7807535-7807536	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555634030	chr4:7807607-7807608	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs77153720	chr4:7807617-7807618	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371164081	chr4:7807653-7807654	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189468182	chr4:7807657-7807658	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577690157	chr4:7807661-7807662	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs9790484	chr4:7807671-7807672	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs145869548	chr4:7807672-7807673	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7442076	chr4:7807701-7807702	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576740095	chr4:7807708-7807709	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs114211450	chr4:7807713-7807714	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542990053	chr4:7807750-7807751	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372171338	chr4:7807782-7807783	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs4274845	chr4:7807783-7807784	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs111405706	chr4:7807821-7807822	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs1106248	chr4:7807834-7807835	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs35732821	chr4:7807850-7807851	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs62289279	chr4:7807858-7807859	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs372543266	chr4:7807883-7807884	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs180750133	chr4:7807885-7807886	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs185752782	chr4:7807895-7807896	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566392874	chr4:7807931-7807932	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533775073	chr4:7807946-7807947	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs190176277	chr4:7807953-7807954	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141738315	chr4:7807958-7807959	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs537674488	chr4:7807960-7807961	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs563121281	chr4:7807964-7807965	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181684114	chr4:7807998-7807999	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374265304	chr4:7807999-7808000	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs71647627	chr4:7808001-7808002	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538791435	chr4:7808023-7808024	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7770800-7828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7781600-7807400	Weak transcription	Brain Angular Gyrus	brain
3	chr4:7784000-7821200	Weak transcription	Small Intestine	intestine
4	chr4:7787000-7829400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr4:7791000-7829400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:7798200-7807200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:7800200-7807200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:7800600-7828800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr4:7801400-7807200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:7801400-7807400	Weak transcription	Right Ventricle	heart
11	chr4:7801800-7807400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:7802000-7807200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:7802000-7807200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:7802000-7807800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:7802200-7819800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:7802400-7812400	Weak transcription	Spleen	Spleen
17	chr4:7802600-7807200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:7802600-7807400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:7802600-7808000	Weak transcription	Gastric	stomach
20	chr4:7802600-7809600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:7802600-7810400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:7802800-7807200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:7802800-7807200	Weak transcription	Brain Anterior Caudate	brain
24	chr4:7802800-7807400	Weak transcription	Left Ventricle	heart
25	chr4:7802800-7807600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:7802800-7809400	Weak transcription	Esophagus	oesophagus
27	chr4:7803000-7808000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:7803000-7808600	Weak transcription	Aorta	Aorta
29	chr4:7803000-7812400	Weak transcription	Colonic Mucosa	Colon
30	chr4:7803400-7807400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:7803800-7809200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:7803800-7810200	Enhancers	Fetal Heart	heart
33	chr4:7804000-7829200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:7804200-7808200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:7804200-7808200	Weak transcription	NHEK	skin
36	chr4:7804600-7809400	Genic enhancers	Osteobl	bone
37	chr4:7805000-7807600	Genic enhancers	Fetal Muscle Leg	muscle
38	chr4:7805200-7809600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:7805200-7822600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:7805400-7807200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:7805400-7807600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr4:7805400-7809600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:7805600-7807400	Enhancers	Placenta	Placenta
44	chr4:7805600-7807400	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr4:7805600-7807600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:7805600-7809600	Enhancers	Colon Smooth Muscle	Colon
47	chr4:7805600-7809800	Enhancers	Brain Hippocampus Middle	brain
48	chr4:7805600-7810400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr4:7805600-7816400	Genic enhancers	Fetal Stomach	stomach
50	chr4:7805800-7807400	Enhancers	Rectal Smooth Muscle	rectum

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