Variant report

Variant	esv1810291
Chromosome Location	chr4:3471312-3474151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3471602..3475518-chr4:3476351..3479966,4	K562	blood:
2	chr4:3075047..3077442-chr4:3472520..3475162,3	K562	blood:
3	chr4:3287264..3290154-chr4:3470213..3472155,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197386	chromatin interactions
ENSG00000251075	chromatin interactions

Extended variants
information (count: 144 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145076237	chr4:3471315-3471316	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540604902	chr4:3471324-3471325	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13125686	chr4:3471327-3471328	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577253559	chr4:3471333-3471334	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189362299	chr4:3471337-3471338	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369432367	chr4:3471341-3471342	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530777047	chr4:3471346-3471347	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550362234	chr4:3471348-3471349	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560819213	chr4:3471352-3471353	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529951856	chr4:3471403-3471404	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61504107	chr4:3471411-3471412	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372774489	chr4:3471453-3471454	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538351555	chr4:3471462-3471463	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552289468	chr4:3471509-3471510	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149119547	chr4:3471517-3471518	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540508171	chr4:3471573-3471574	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538395706	chr4:3471639-3471640	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs113265600	chr4:3471641-3471642	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs116119602	chr4:3471678-3471679	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs534532571	chr4:3471718-3471719	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs16844418	chr4:3471754-3471755	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs36108526	chr4:3471783-3471784	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs397878095	chr4:3471784-3471785	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs77056422	chr4:3471817-3471818	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545974528	chr4:3471847-3471848	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151038661	chr4:3471890-3471891	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576147507	chr4:3471904-3471905	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180810850	chr4:3471913-3471914	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35444642	chr4:3471914-3471915	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs62275885	chr4:3471920-3471921	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185694764	chr4:3471952-3471953	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145065937	chr4:3471972-3471973	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34205261	chr4:3471976-3471977	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138932321	chr4:3471991-3471992	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577872317	chr4:3472066-3472067	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140654138	chr4:3472078-3472079	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538966903	chr4:3472084-3472085	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548786763	chr4:3472096-3472097	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190704264	chr4:3472129-3472130	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73792102	chr4:3472139-3472140	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs150462945	chr4:3472149-3472150	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs41493052	chr4:3472162-3472163	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554007894	chr4:3472202-3472203	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs138324861	chr4:3472213-3472214	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs149650621	chr4:3472216-3472217	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs576110511	chr4:3472217-3472218	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs181768398	chr4:3472234-3472235	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs554339264	chr4:3472256-3472257	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs186126245	chr4:3472261-3472262	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs540062579	chr4:3472271-3472272	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3466400-3482400	Weak transcription	Right Atrium	heart
2	chr4:3467000-3493600	Weak transcription	Aorta	Aorta
3	chr4:3467600-3473000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:3468600-3478400	Weak transcription	HSMMtube	muscle
5	chr4:3468800-3475000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:3468800-3486400	Weak transcription	Psoas Muscle	Psoas
7	chr4:3469200-3473200	Enhancers	Right Ventricle	heart
8	chr4:3469400-3472800	Genic enhancers	HSMM	muscle
9	chr4:3469800-3475400	Enhancers	Pancreas	Pancrea
10	chr4:3470200-3473000	Enhancers	Left Ventricle	heart
11	chr4:3470800-3472800	Enhancers	Fetal Muscle Leg	muscle
12	chr4:3470800-3473000	Enhancers	Fetal Muscle Trunk	muscle
13	chr4:3470800-3475000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:3470800-3478800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:3471000-3471800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:3471000-3472000	Weak transcription	Gastric	stomach
17	chr4:3471000-3472600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:3471000-3473000	Enhancers	Fetal Heart	heart
19	chr4:3471000-3474800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
20	chr4:3471400-3472400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:3471600-3472200	Bivalent Enhancer	HepG2	liver
22	chr4:3471800-3473000	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr4:3471800-3473200	Bivalent Enhancer	Fetal Stomach	stomach
24	chr4:3471800-3473200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr4:3472000-3472200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:3472000-3472800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:3472000-3472800	Bivalent Enhancer	NHEK	skin
28	chr4:3472000-3473000	Enhancers	Gastric	stomach
29	chr4:3472200-3472400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
30	chr4:3472200-3472400	Flanking Bivalent TSS/Enh	HepG2	liver
31	chr4:3472200-3472600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:3472200-3473000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:3472400-3472600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:3472600-3473000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:3472600-3473000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
36	chr4:3472600-3475000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:3472600-3475000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:3472800-3473800	Strong transcription	HSMM	muscle
39	chr4:3472800-3474800	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:3473000-3473800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:3473000-3474400	Weak transcription	Fetal Heart	heart
42	chr4:3473000-3474400	Weak transcription	Left Ventricle	heart
43	chr4:3473000-3475200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:3473000-3475200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr4:3473000-3478800	Weak transcription	Gastric	stomach
46	chr4:3473200-3473600	Weak transcription	Right Ventricle	heart
47	chr4:3473200-3473800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr4:3473600-3473800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:3473600-3473800	Enhancers	Right Ventricle	heart
50	chr4:3473600-3474000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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