Variant report

Variant	nsv591927
Chromosome Location	chr3:143998527-144054686
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:144026496..144028084-chr3:144029746..144032575,2	MCF-7	breast:
2	chr3:143689712..143692723-chr3:144026505..144028595,3	MCF-7	breast:
3	chr3:144012906..144014762-chr3:144016607..144019319,2	MCF-7	breast:
4	chr3:144047302..144050208-chr3:144050986..144053451,2	K562	blood:
5	chr17:56707384..56710273-chr3:144036844..144039092,2	MCF-7	breast:
6	chr12:53342265..53345092-chr3:144025098..144026936,2	MCF-7	breast:
7	chr3:143689784..143692345-chr3:144032931..144035365,2	MCF-7	breast:
8	chr3:143690687..143692253-chr3:144007125..144008743,2	MCF-7	breast:
9	chr3:144047302..144050208-chr3:144050986..144053451,2	K562	blood:
10	chr3:143690773..143693147-chr3:144024947..144027838,2	K562	blood:
11	chr3:144026496..144028084-chr3:144029746..144032575,2	MCF-7	breast:
12	chr3:144012906..144014762-chr3:144016607..144019319,2	MCF-7	breast:
13	chr3:143940644..143942210-chr3:144039456..144041845,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170421	chromatin interactions
ENSG00000181744	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000111057	chromatin interactions

Extended variants
information (count: 1381 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1381 , 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	rs7617465	chr3:143998527-143998528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527942697	chr3:143998554-143998555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553570057	chr3:143998564-143998565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs58807263	chr3:143998596-143998597	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540432151	chr3:143998610-143998611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60828791	chr3:143998675-143998676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs531929220	chr3:143998696-143998697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550147296	chr3:143998706-143998707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568132736	chr3:143998717-143998718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141696146	chr3:143998757-143998758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535226245	chr3:143998802-143998803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370372210	chr3:143998829-143998830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553776654	chr3:143998845-143998846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190226249	chr3:143998868-143998869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539705447	chr3:143998879-143998880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558090515	chr3:143998947-143998948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58570934	chr3:143998970-143998971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs543585717	chr3:143998974-143998975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182359242	chr3:143998982-143998983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532296132	chr3:143999046-143999047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187414632	chr3:143999101-143999102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541933016	chr3:143999190-143999191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191752901	chr3:143999209-143999210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61038447	chr3:143999214-143999215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs34474018	chr3:143999249-143999250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545840280	chr3:143999304-143999305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545564156	chr3:143999329-143999330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564791816	chr3:143999330-143999331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114734659	chr3:143999331-143999332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140552117	chr3:143999366-143999367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73871189	chr3:143999383-143999384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557632644	chr3:143999443-143999444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528964075	chr3:143999572-143999573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547526263	chr3:143999619-143999620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112376738	chr3:143999636-143999637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565634536	chr3:143999656-143999657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373669610	chr3:143999687-143999688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539441049	chr3:143999691-143999692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575893420	chr3:143999740-143999741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73871190	chr3:143999757-143999758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs182933720	chr3:143999767-143999768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543305131	chr3:143999771-143999772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555501668	chr3:143999815-143999816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573762283	chr3:143999818-143999819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73871191	chr3:143999835-143999836	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs553845157	chr3:143999846-143999847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572245600	chr3:143999847-143999848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185350986	chr3:143999867-143999868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567736027	chr3:143999887-143999888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564351499	chr3:143999897-143999898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21509527	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143991800-143999800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:143993200-144001200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:143998000-143998600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:143999800-144000000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:144000000-144001000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:144001000-144001400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr3:144001000-144001400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:144001000-144001600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:144001000-144001600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr3:144001000-144001800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:144001000-144001800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:144001000-144001800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:144001000-144001800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:144001000-144001800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:144001200-144001800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:144001600-144005600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:144001800-144005200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:144001800-144010800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:144005200-144006400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:144005400-144005800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:144005400-144006000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:144005600-144006200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr3:144005600-144006200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr3:144006000-144006200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:144006000-144007000	Enhancers	Ovary	ovary
26	chr3:144006400-144006800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:144006400-144007800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:144007000-144007800	Weak transcription	Ovary	ovary
29	chr3:144007800-144008000	Enhancers	Ovary	ovary
30	chr3:144007800-144008200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:144012800-144014200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:144012800-144015200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:144013000-144013400	Enhancers	GM12878-XiMat	blood
34	chr3:144013400-144014000	Flanking Active TSS	GM12878-XiMat	blood
35	chr3:144013600-144014000	Enhancers	Brain Substantia Nigra	brain
36	chr3:144013600-144014400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:144013600-144014600	Enhancers	Dnd41	blood
38	chr3:144014000-144014400	Active TSS	Brain Substantia Nigra	brain
39	chr3:144014000-144014400	Active TSS	GM12878-XiMat	blood
40	chr3:144014200-144014600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:144014200-144014600	Active TSS	Brain Cingulate Gyrus	brain
42	chr3:144014200-144014600	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr3:144014200-144014800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:144014200-144015600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:144014400-144014600	Active TSS	Brain Anterior Caudate	brain
46	chr3:144014400-144014600	Enhancers	Brain Substantia Nigra	brain
47	chr3:144014400-144014600	Flanking Active TSS	GM12878-XiMat	blood
48	chr3:144014400-144014800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:144014400-144014800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:144014400-144014800	Enhancers	NHEK	skin

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