Variant report

Variant	esv1792095
Chromosome Location	chr4:2972168-3004238
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:39)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2963409..2964972-chr4:2976613..2978274,2	MCF-7	breast:
2	chr4:2999092..3001620-chr4:3007544..3009906,2	K562	blood:
3	chr4:2982899..2985066-chr4:2988883..2990462,2	K562	blood:
4	chr4:2963294..2966874-chr4:2971342..2975947,5	MCF-7	breast:
5	chr4:2979100..2980940-chr4:2982118..2984600,2	K562	blood:
6	chr4:2973686..2975876-chr4:2978754..2981541,2	MCF-7	breast:
7	chr4:2982899..2985066-chr4:2988883..2990462,2	K562	blood:
8	chr4:2993023..2995756-chr4:3021120..3023336,2	K562	blood:
9	chr4:2978330..2980789-chr4:2984155..2986237,2	MCF-7	breast:
10	chr4:2963003..2965812-chr4:2978190..2981677,5	MCF-7	breast:
11	chr4:2755330..2758068-chr4:2977611..2979327,2	K562	blood:
12	chr4:2963799..2967429-chr4:2967585..2973552,6	K562	blood:
13	chr4:2956703..2959553-chr4:2975091..2977278,2	MCF-7	breast:
14	chr4:2964172..2967061-chr4:2971431..2973552,4	K562	blood:
15	chr4:2979829..2980854-chr4:3038589..3039659,5	MCF-7	breast:
16	chr4:2979113..2981716-chr4:2982271..2984817,3	K562	blood:
17	chr4:2974314..2976832-chr4:2978872..2980388,2	K562	blood:
18	chr4:2970964..2973292-chr4:2975610..2977622,2	MCF-7	breast:
19	chr4:2974314..2976832-chr4:2978872..2980388,2	K562	blood:
20	chr4:2936565..2939326-chr4:2970679..2973500,2	K562	blood:
21	chr4:2970964..2973292-chr4:2975610..2977622,2	MCF-7	breast:
22	chr4:2970449..2973378-chr4:2977803..2979783,2	MCF-7	breast:
23	chr4:2970358..2972253-chr4:2973675..2976968,3	K562	blood:
24	chr4:2968827..2971800-chr4:2992655..2994613,2	K562	blood:
25	chr4:2985299..2988258-chr4:2989920..2992919,2	MCF-7	breast:
26	chr4:2978330..2980789-chr4:2984155..2986237,2	MCF-7	breast:
27	chr4:2973975..2975690-chr4:3027786..3029865,2	MCF-7	breast:
28	chr4:2982899..2985113-chr4:2988868..2990462,2	K562	blood:
29	chr4:2979100..2980940-chr4:2982118..2984600,2	K562	blood:
30	chr4:2982899..2985113-chr4:2988868..2990462,2	K562	blood:
31	chr4:2985299..2988258-chr4:2989920..2992919,2	MCF-7	breast:
32	chr4:2980243..2980804-chr4:3039126..3039629,2	MCF-7	breast:
33	chr4:2976299..2978558-chr4:2988951..2991027,2	K562	blood:
34	chr4:2976299..2978558-chr4:2988951..2991027,2	K562	blood:
35	chr4:2965958..2968897-chr4:2971775..2974450,2	MCF-7	breast:
36	chr4:2965936..2968451-chr4:2977512..2979704,2	K562	blood:
37	chr4:2970358..2971915-chr4:2973675..2976968,3	K562	blood:
38	chr4:2979113..2981716-chr4:2982271..2984817,3	K562	blood:
39	chr4:2973686..2975876-chr4:2978754..2981541,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADD1-5	chr4:2972675-2972919	NONHSAT094839

No data

Variant related genes	Relation type
ENSG00000125388	chromatin interactions
ENSG00000109736	chromatin interactions
ENSG00000087269	chromatin interactions
ENSG00000168884	chromatin interactions
ENSG00000249673	chromatin interactions

Extended variants
information (count: 1356 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1356 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34344414	chr4:2972192-2972193	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs35936059	chr4:2972201-2972202	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs34715939	chr4:2972204-2972205	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs377368924	chr4:2972214-2972215	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs576539066	chr4:2972229-2972230	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs544328381	chr4:2972249-2972250	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs112885806	chr4:2972277-2972278	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs186635527	chr4:2972290-2972291	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs372843597	chr4:2972291-2972292	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs539797371	chr4:2972295-2972296	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs192530347	chr4:2972340-2972341	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs376580264	chr4:2972377-2972378	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs568396384	chr4:2972399-2972400	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs371245484	chr4:2972412-2972413	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs374592261	chr4:2972419-2972420	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs531393480	chr4:2972427-2972428	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs548708968	chr4:2972487-2972488	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs554875207	chr4:2972498-2972499	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs13104987	chr4:2972535-2972536	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs142132340	chr4:2972545-2972546	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs547777503	chr4:2972572-2972573	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs571182350	chr4:2972590-2972591	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs540153145	chr4:2972598-2972599	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs543480765	chr4:2972611-2972612	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs13105183	chr4:2972631-2972632	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs576617198	chr4:2972640-2972641	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs558581579	chr4:2972644-2972645	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs185542002	chr4:2972649-2972650	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs374951907	chr4:2972660-2972661	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs554247584	chr4:2972689-2972690	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs574155953	chr4:2972692-2972693	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs146378412	chr4:2972808-2972809	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs559693169	chr4:2972874-2972875	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
34	rs374062513	chr4:2972879-2972880	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs148160856	chr4:2972976-2972977	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs142025341	chr4:2972998-2972999	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs114828248	chr4:2973022-2973023	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs531533645	chr4:2973125-2973126	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs548037097	chr4:2973190-2973191	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs562177153	chr4:2973249-2973250	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs139473180	chr4:2973332-2973333	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs547889045	chr4:2973353-2973354	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs530349300	chr4:2973389-2973390	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs73792110	chr4:2973390-2973391	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539439897	chr4:2973413-2973414	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs550497219	chr4:2973487-2973488	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs570207914	chr4:2973489-2973490	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs190399919	chr4:2973494-2973495	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs35916613	chr4:2973511-2973512	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs377739335	chr4:2973585-2973586	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2966200-2972200	Weak transcription	Aorta	Aorta
2	chr4:2966200-2977400	Weak transcription	Lung	lung
3	chr4:2966400-2973200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:2966400-2974000	Weak transcription	Right Ventricle	heart
5	chr4:2966400-2974800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:2966400-2975600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:2966400-2978600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:2966400-2980200	Weak transcription	Left Ventricle	heart
9	chr4:2966400-2980200	Weak transcription	Ovary	ovary
10	chr4:2966400-2980400	Weak transcription	Spleen	Spleen
11	chr4:2966600-2977600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr4:2966600-2978600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:2966600-2978800	Weak transcription	NH-A	brain
14	chr4:2966600-2979000	Weak transcription	HSMM	muscle
15	chr4:2966600-2979600	Weak transcription	Primary T cells from cord blood	blood
16	chr4:2966600-2982000	Weak transcription	Brain Germinal Matrix	brain
17	chr4:2966600-2982200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:2966800-2974600	Weak transcription	Fetal Brain Female	brain
19	chr4:2966800-2975200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:2966800-2977200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:2966800-2978800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:2966800-2978800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:2966800-2979000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:2966800-2979200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:2966800-2979400	Weak transcription	Brain Substantia Nigra	brain
26	chr4:2966800-2982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:2967000-2978800	Weak transcription	Osteobl	bone
28	chr4:2967000-2979200	Weak transcription	Brain Anterior Caudate	brain
29	chr4:2967200-2976200	Weak transcription	Dnd41	blood
30	chr4:2967200-2978600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:2967200-2978600	Weak transcription	HSMMtube	muscle
32	chr4:2967200-2978800	Weak transcription	NHDF-Ad	bronchial
33	chr4:2967200-2979000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:2967200-2979000	Weak transcription	NHLF	lung
35	chr4:2967200-2979200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:2967200-2980200	Weak transcription	Brain Angular Gyrus	brain
37	chr4:2967200-2983800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:2967400-2979400	Weak transcription	Esophagus	oesophagus
39	chr4:2967400-2982600	Weak transcription	Pancreas	Pancrea
40	chr4:2967400-2983000	Weak transcription	Fetal Lung	lung
41	chr4:2967400-2983600	Weak transcription	Gastric	stomach
42	chr4:2967600-2973800	Weak transcription	Fetal Stomach	stomach
43	chr4:2967600-2978600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:2967600-2978600	Weak transcription	Fetal Heart	heart
45	chr4:2967800-2974600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr4:2969000-2974000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:2969000-2978600	Weak transcription	Fetal Brain Male	brain
48	chr4:2969200-2972200	Weak transcription	Fetal Muscle Leg	muscle
49	chr4:2973200-2973600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:2973600-2974200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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