Variant report

Variant	nsv998311
Chromosome Location	chr4:2981615-3012723
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2938205..2940461-chr4:3011705..3013436,2	MCF-7	breast:
2	chr4:2982899..2985066-chr4:2988883..2990462,2	K562	blood:
3	chr4:3005911..3008634-chr4:3009040..3011170,2	K562	blood:
4	chr4:2979113..2981716-chr4:2982271..2984817,3	K562	blood:
5	chr4:2963003..2965812-chr4:2978190..2981677,5	MCF-7	breast:
6	chr4:2979100..2980940-chr4:2982118..2984600,2	K562	blood:
7	chr4:2963576..2965499-chr4:3012277..3014401,2	MCF-7	breast:
8	chr4:2978330..2980789-chr4:2984155..2986237,2	MCF-7	breast:
9	chr4:3005911..3008634-chr4:3009040..3011170,2	K562	blood:
10	chr4:2982899..2985066-chr4:2988883..2990462,2	K562	blood:
11	chr4:2968827..2971800-chr4:2992655..2994613,2	K562	blood:
12	chr4:2976299..2978558-chr4:2988951..2991027,2	K562	blood:
13	chr4:2979113..2981716-chr4:2982271..2984817,3	K562	blood:
14	chr4:2999092..3001620-chr4:3007544..3009906,2	K562	blood:
15	chr4:2982899..2985113-chr4:2988868..2990462,2	K562	blood:
16	chr4:3009009..3010811-chr4:3023139..3026121,2	MCF-7	breast:
17	chr4:2993023..2995756-chr4:3021120..3023336,2	K562	blood:
18	chr4:2999092..3001620-chr4:3007544..3009906,2	K562	blood:
19	chr4:2982899..2985113-chr4:2988868..2990462,2	K562	blood:
20	chr4:2985299..2988258-chr4:2989920..2992919,2	MCF-7	breast:
21	chr4:2985299..2988258-chr4:2989920..2992919,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000087269	chromatin interactions
ENSG00000125388	chromatin interactions
ENSG00000249673	chromatin interactions

Extended variants
information (count: 1320 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1320 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548948608	chr4:2981627-2981628	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372792670	chr4:2981680-2981681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6823884	chr4:2981695-2981696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146922122	chr4:2981725-2981726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137930588	chr4:2981741-2981742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551351370	chr4:2981746-2981747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143957854	chr4:2981770-2981771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3021137	chr4:2981783-2981784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557074891	chr4:2981795-2981796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184386919	chr4:2981822-2981823	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs370087242	chr4:2981832-2981833	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs547074920	chr4:2981836-2981837	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs189277424	chr4:2981849-2981850	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs182329240	chr4:2981870-2981871	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs568655286	chr4:2981888-2981889	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs545694009	chr4:2981938-2981939	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs78060617	chr4:2981944-2981945	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs148648478	chr4:2981973-2981974	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs544808454	chr4:2982092-2982093	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs563406930	chr4:2982116-2982117	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs561040177	chr4:2982253-2982254	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs542327309	chr4:2982255-2982256	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs559313455	chr4:2982287-2982288	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs34626132	chr4:2982291-2982292	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs12645113	chr4:2982318-2982319	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551654544	chr4:2982343-2982344	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs564831567	chr4:2982357-2982358	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186407613	chr4:2982432-2982433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550341911	chr4:2982444-2982445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3021136	chr4:2982459-2982460	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs140799427	chr4:2982526-2982527	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536766316	chr4:2982527-2982528	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528635499	chr4:2982591-2982592	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546739235	chr4:2982605-2982606	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs566863773	chr4:2982617-2982618	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs112825243	chr4:2982623-2982624	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs114202729	chr4:2982656-2982657	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs373943034	chr4:2982745-2982746	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs4690068	chr4:2982768-2982769	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs538469064	chr4:2982787-2982788	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs555220495	chr4:2982820-2982821	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112405407	chr4:2982826-2982827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77504251	chr4:2982906-2982907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2105380	chr4:2982929-2982930	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs139394138	chr4:2982932-2982933	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113510686	chr4:2982949-2982950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77164310	chr4:2982977-2982978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111361056	chr4:2982978-2982979	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564866186	chr4:2983025-2983026	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112892393	chr4:2983127-2983128	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Developmental delay	21147756	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
Breast cancer	22522925	CNVD
Facial dysmorphism	22438245	CNVD
Wolf-Hirschhorn syndrome	22438245	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2966600-2982000	Weak transcription	Brain Germinal Matrix	brain
2	chr4:2966600-2982200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:2966800-2982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:2967200-2983800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:2967400-2982600	Weak transcription	Pancreas	Pancrea
6	chr4:2967400-2983000	Weak transcription	Fetal Lung	lung
7	chr4:2967400-2983600	Weak transcription	Gastric	stomach
8	chr4:2975600-2981800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:2975800-2981800	Weak transcription	Fetal Stomach	stomach
10	chr4:2979400-2982600	Weak transcription	Brain Anterior Caudate	brain
11	chr4:2979600-2981800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:2979600-2982400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:2979600-3025000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:2979800-2983600	Weak transcription	HSMMtube	muscle
15	chr4:2980200-2982400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:2980200-2982400	Weak transcription	Brain Substantia Nigra	brain
17	chr4:2980400-2982000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:2980400-2984000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:2980600-2981800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:2980600-2983400	Weak transcription	Right Ventricle	heart
21	chr4:2980600-2992000	Weak transcription	Fetal Heart	heart
22	chr4:2981800-2982200	Weak transcription	Fetal Brain Female	brain
23	chr4:2981800-2983400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:2981800-2983400	ZNF genes & repeats	Fetal Stomach	stomach
25	chr4:2981800-2984000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:2981800-2984200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:2982000-2982400	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:2982000-2983400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:2982000-2984000	ZNF genes & repeats	Brain Germinal Matrix	brain
30	chr4:2982200-2982600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:2982400-2982800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:2982400-2984200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:2982600-2982800	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:2982600-2982800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:2982600-2982800	ZNF genes & repeats	Pancreas	Pancrea
36	chr4:2982600-2983600	ZNF genes & repeats	Fetal Brain Female	brain
37	chr4:2982800-2983000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:2983000-2983200	ZNF genes & repeats	Brain Anterior Caudate	brain
39	chr4:2983000-2983200	ZNF genes & repeats	Brain Hippocampus Middle	brain
40	chr4:2983000-2983400	ZNF genes & repeats	Fetal Lung	lung
41	chr4:2983200-2997000	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:2983400-2984000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:2983400-2984000	Enhancers	Right Ventricle	heart
44	chr4:2983400-2988800	Weak transcription	Fetal Lung	lung
45	chr4:2983600-2984200	Enhancers	Gastric	stomach
46	chr4:2983600-3032000	Weak transcription	Fetal Brain Female	brain
47	chr4:2983800-2984400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:2984000-2985400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:2984200-2991800	Weak transcription	Gastric	stomach
50	chr4:2984400-2984800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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