Variant report

Variant	nsv528201
Chromosome Location	chr1:179831248-179832643
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:179808933..179811748-chr1:179830846..179833162,2	MCF-7	breast:
2	chr1:179832603..179840385-chr1:179843229..179848672,10	MCF-7	breast:
3	chr1:179821213..179823373-chr1:179831118..179833958,2	K562	blood:
4	chr1:179827853..179829616-chr1:179831042..179832736,2	K562	blood:
5	chr1:179831047..179833127-chr1:179833809..179835853,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL359853.2-2	chr1:179831573-179832347	NONHSAT008218
2	lnc-TOR1AIP1-2	chr1:179831573-179832371	ENSG00000245075

No data

Variant related genes	Relation type
ENSG00000169905	chromatin interactions
ENSG00000258664	chromatin interactions
ROBLD3	miRNA target sites

Extended variants
information (count: 54 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1048418	chr1:179831248-179831249	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375063280	chr1:179831273-179831274	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556382297	chr1:179831341-179831342	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541757449	chr1:179831362-179831363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576556822	chr1:179831377-179831378	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561427746	chr1:179831393-179831394	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545306806	chr1:179831423-179831424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530064881	chr1:179831446-179831447	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372422122	chr1:179831453-179831454	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs193162186	chr1:179831472-179831473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117982259	chr1:179831494-179831495	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577519183	chr1:179831514-179831515	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544973877	chr1:179831533-179831534	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs541325447	chr1:179831543-179831544	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561277257	chr1:179831575-179831576	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs183642381	chr1:179831578-179831579	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs550099378	chr1:179831626-179831627	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs569882425	chr1:179831635-179831636	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs543468614	chr1:179831758-179831759	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs538814642	chr1:179831762-179831763	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs552105882	chr1:179831779-179831780	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs115714348	chr1:179831780-179831781	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs534426347	chr1:179831810-179831811	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs554283971	chr1:179831821-179831822	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs574090130	chr1:179831905-179831906	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs12126625	chr1:179831963-179831964	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556424548	chr1:179831966-179831967	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs148040147	chr1:179832018-179832019	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs189132117	chr1:179832031-179832032	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs558888779	chr1:179832057-179832058	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs550277192	chr1:179832061-179832062	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs542708834	chr1:179832079-179832080	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs572463560	chr1:179832118-179832119	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs541528850	chr1:179832150-179832151	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs561415428	chr1:179832172-179832173	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs530097443	chr1:179832219-179832220	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs141727005	chr1:179832247-179832248	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs531891530	chr1:179832253-179832254	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs71630245	chr1:179832258-179832259	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs113407999	chr1:179832274-179832275	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs147229617	chr1:179832285-179832286	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs532305249	chr1:179832286-179832287	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs192182958	chr1:179832342-179832343	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs565726837	chr1:179832417-179832418	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551145622	chr1:179832480-179832481	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183753020	chr1:179832487-179832488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs547858791	chr1:179832493-179832494	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs138925023	chr1:179832506-179832507	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536615281	chr1:179832530-179832531	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs142843287	chr1:179832565-179832566	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179795600-179834200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:179802400-179836200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:179803600-179833600	Weak transcription	Fetal Brain Male	brain
4	chr1:179807800-179833800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:179808600-179837000	Strong transcription	Liver	Liver
6	chr1:179808600-179839800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:179808800-179836000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:179812600-179842600	Weak transcription	Stomach Mucosa	stomach
9	chr1:179813200-179839200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:179813400-179834000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:179814200-179834400	Weak transcription	Fetal Heart	heart
12	chr1:179814400-179839200	Strong transcription	HSMM	muscle
13	chr1:179815000-179839400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:179816000-179836000	Weak transcription	Colonic Mucosa	Colon
15	chr1:179820200-179831600	Weak transcription	Esophagus	oesophagus
16	chr1:179820200-179834200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:179820400-179831600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:179820400-179832200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:179820400-179833600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:179820400-179834000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:179820400-179841400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:179820400-179841800	Weak transcription	Small Intestine	intestine
23	chr1:179820400-179844200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:179820400-179845400	Weak transcription	Right Ventricle	heart
25	chr1:179820600-179832600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:179820600-179832800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:179820600-179834000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:179820600-179834000	Weak transcription	HSMMtube	muscle
29	chr1:179821000-179833400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:179821000-179833600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:179821000-179833600	Weak transcription	Fetal Kidney	kidney
32	chr1:179821000-179834200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:179821200-179832400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:179821200-179834000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:179821800-179832600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:179822600-179831400	Weak transcription	HepG2	liver
37	chr1:179823000-179839200	Strong transcription	Osteobl	bone
38	chr1:179823800-179839200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr1:179823800-179843200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:179824200-179839800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:179824400-179837800	Strong transcription	Primary B cells from cord blood	blood
42	chr1:179824600-179838400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:179825000-179838200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:179825600-179833000	Strong transcription	Fetal Intestine Small	intestine
45	chr1:179825600-179839000	Strong transcription	Fetal Intestine Large	intestine
46	chr1:179825800-179839200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:179826000-179832600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:179826200-179843400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:179826600-179832400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:179826600-179832400	Weak transcription	Lung	lung

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