Variant report

Variant	nsv1012324
Chromosome Location	chr1:114135133-114206843
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:0)
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	chr1:114183983..114185528-chr1:114194793..114196565,2	MCF-7	breast:
2	chr1:114189711..114191330-chr1:114193397..114195766,2	MCF-7	breast:
3	chr1:114191701..114193455-chr1:114196104..114197721,2	MCF-7	breast:
4	chr1:114194523..114197911-chr1:114198408..114201889,3	K562	blood:
5	chr1:114183983..114185528-chr1:114194793..114196565,2	MCF-7	breast:
6	chr1:114186046..114188816-chr1:114192338..114195071,2	MCF-7	breast:
7	chr1:113635215..113637983-chr1:114201241..114204129,2	K562	blood:
8	chr1:114186603..114189463-chr20:45987502..45989403,2	MCF-7	breast:
9	chr1:114189712..114192425-chr1:114196564..114198104,2	K562	blood:
10	chr1:114186716..114188262-chr1:114191600..114194124,2	MCF-7	breast:
11	chr1:114189711..114191330-chr1:114193397..114195766,2	MCF-7	breast:
12	chr1:114185827..114187693-chr17:4268175..4270589,2	MCF-7	breast:
13	chr1:114157193..114159777-chr1:114161576..114164133,2	K562	blood:
14	chr1:113932839..113934722-chr1:114187354..114190196,2	MCF-7	breast:
15	chr1:114196620..114199444-chr1:114200483..114202239,2	K562	blood:
16	chr1:114149968..114152089-chr1:114154639..114156379,2	MCF-7	breast:
17	chr1:114191701..114193455-chr1:114196104..114197721,2	MCF-7	breast:
18	chr1:114196620..114199444-chr1:114200483..114202239,2	K562	blood:
19	chr1:114149968..114152089-chr1:114154639..114156379,2	MCF-7	breast:
20	chr1:114156923..114159777-chr1:114160586..114163076,2	K562	blood:
21	chr1:114187353..114189449-chr1:114189672..114191281,2	MCF-7	breast:
22	chr1:114156923..114159777-chr1:114160586..114163076,2	K562	blood:
23	chr1:114192533..114195084-chr1:114195478..114197038,2	K562	blood:
24	chr1:114135355..114138035-chr1:114138572..114141485,2	MCF-7	breast:
25	chr1:114187353..114189449-chr1:114189672..114191281,2	MCF-7	breast:
26	chr1:114154767..114157221-chr1:114162340..114164066,2	MCF-7	breast:
27	chr1:114197750..114199827-chr1:114202286..114204073,2	K562	blood:
28	chr1:114197750..114199827-chr1:114202286..114204073,2	K562	blood:
29	chr1:114186716..114188262-chr1:114191600..114194124,2	MCF-7	breast:
30	chr1:113931918..113934617-chr1:114200374..114201953,2	K562	blood:
31	chr1:114154767..114157221-chr1:114162340..114164066,2	MCF-7	breast:
32	chr1:114192533..114195084-chr1:114195478..114197038,2	K562	blood:
33	chr1:114135355..114138035-chr1:114138572..114141485,2	MCF-7	breast:
34	chr1:114194523..114197911-chr1:114198408..114201889,3	K562	blood:
35	chr1:114157193..114159777-chr1:114161576..114164133,2	K562	blood:
36	chr1:114202310..114204666-chr1:114619854..114621847,2	K562	blood:
37	chr1:114185208..114187215-chr1:114207813..114209339,2	K562	blood:
38	chr1:114186046..114188816-chr1:114192338..114195071,2	MCF-7	breast:
39	chr1:114189712..114192425-chr1:114196564..114198104,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000132388	chromatin interactions
ENSG00000081026	chromatin interactions

Extended variants
information (count: 2394 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2394 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4838993	chr1:114135133-114135134	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567291294	chr1:114135136-114135137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1237290	chr1:114135147-114135148	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552749480	chr1:114135179-114135180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572610934	chr1:114135185-114135186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534858439	chr1:114135190-114135191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558054343	chr1:114135218-114135219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539569965	chr1:114135267-114135268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543448654	chr1:114135305-114135306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563337969	chr1:114135319-114135320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1217234	chr1:114135346-114135347	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34752381	chr1:114135349-114135350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543116218	chr1:114135362-114135363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559552636	chr1:114135363-114135364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528310577	chr1:114135372-114135373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183255557	chr1:114135377-114135378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548158146	chr1:114135404-114135405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565213800	chr1:114135410-114135411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142136574	chr1:114135437-114135438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542671220	chr1:114135496-114135497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535834504	chr1:114135502-114135503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375641518	chr1:114135503-114135504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546694181	chr1:114135507-114135508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61819423	chr1:114135526-114135527	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs61819424	chr1:114135555-114135556	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs557918984	chr1:114135602-114135603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577963718	chr1:114135652-114135653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537350068	chr1:114135684-114135685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557329780	chr1:114135687-114135688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34975490	chr1:114135693-114135694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4839329	chr1:114135705-114135706	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs542199153	chr1:114135706-114135707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1217233	chr1:114135708-114135709	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs34516057	chr1:114135760-114135761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372101953	chr1:114135820-114135821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559825829	chr1:114135821-114135822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572183560	chr1:114135861-114135862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150709401	chr1:114135880-114135881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565072424	chr1:114135905-114135906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530677742	chr1:114136008-114136009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1217232	chr1:114136037-114136038	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139017401	chr1:114136107-114136108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553204258	chr1:114136116-114136117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188649421	chr1:114136140-114136141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531750919	chr1:114136186-114136187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373275405	chr1:114136194-114136195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566599055	chr1:114136220-114136221	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs376903579	chr1:114136253-114136254	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs149911988	chr1:114136358-114136359	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs367773066	chr1:114136360-114136361	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:897 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114094800-114138400	Weak transcription	NHDF-Ad	bronchial
2	chr1:114100600-114140200	Weak transcription	Left Ventricle	heart
3	chr1:114100600-114173400	Weak transcription	Gastric	stomach
4	chr1:114110800-114139600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:114113000-114138400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:114116800-114138200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:114117600-114138400	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:114118800-114136400	Weak transcription	Fetal Intestine Large	intestine
9	chr1:114119000-114140400	Weak transcription	Fetal Stomach	stomach
10	chr1:114119200-114138200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:114119200-114140400	Weak transcription	Esophagus	oesophagus
12	chr1:114119200-114145200	Weak transcription	Lung	lung
13	chr1:114119200-114172400	Weak transcription	Pancreas	Pancrea
14	chr1:114119200-114173000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:114122400-114136600	Weak transcription	Fetal Lung	lung
16	chr1:114122400-114136800	Weak transcription	Placenta	Placenta
17	chr1:114122800-114137600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:114122800-114142600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:114123000-114136600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:114123000-114136800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:114123000-114138800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:114123400-114137600	Weak transcription	Dnd41	blood
23	chr1:114123400-114139600	Weak transcription	Fetal Heart	heart
24	chr1:114123600-114136800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:114123800-114138400	Weak transcription	Small Intestine	intestine
26	chr1:114124200-114140200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:114124400-114172400	Weak transcription	Aorta	Aorta
28	chr1:114124600-114136400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:114124800-114139600	Weak transcription	Fetal Brain Male	brain
30	chr1:114125000-114136600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:114126600-114136600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:114126600-114139400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:114126600-114139400	Weak transcription	HSMM	muscle
34	chr1:114126600-114157200	Weak transcription	HUVEC	blood vessel
35	chr1:114126800-114138200	Weak transcription	Fetal Kidney	kidney
36	chr1:114127000-114136400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:114127000-114137600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:114127000-114139600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:114127200-114137200	Weak transcription	Adipose Nuclei	Adipose
40	chr1:114127400-114136600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:114127400-114139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:114128000-114137000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:114128000-114139600	Weak transcription	HepG2	liver
44	chr1:114128000-114140000	Weak transcription	Ovary	ovary
45	chr1:114128200-114136800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:114128600-114136600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:114129200-114138600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:114131000-114136200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:114131800-114137600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:114132400-114138800	Weak transcription	Primary T cells from cord blood	blood

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