Variant report

Variant	nsv873375
Chromosome Location	chr1:242332289-242348602
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:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:242334854..242337802-chr1:242340893..242343109,2	MCF-7	breast:
2	chr1:242334854..242337802-chr1:242340893..242343109,2	MCF-7	breast:
3	chr1:242344558..242347409-chr1:242350180..242352444,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXO1-10	chr1:242341031-242341205	ENSG00000272865.1
2	lnc-EXO1-10	chr1:242341597-242341667	ENSG00000272865.1
3	lnc-EXO1-9	chr1:242337290-242337520	NONHSAT010562
4	lnc-EXO1-9	chr1:242338601-242338936	NONHSAT010562

No data

Variant related genes	Relation type
ENSG00000252084	chromatin interactions

Extended variants
information (count: 763 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:763 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12077659	chr1:242332289-242332290	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2653167	chr1:242332297-242332298	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529628045	chr1:242332335-242332336	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs61846733	chr1:242332362-242332363	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs316893	chr1:242332370-242332371	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189639855	chr1:242332445-242332446	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552508310	chr1:242332531-242332532	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569172212	chr1:242332558-242332559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537746566	chr1:242332560-242332561	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs316892	chr1:242332593-242332594	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568143917	chr1:242332624-242332625	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534040965	chr1:242332630-242332631	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542399226	chr1:242332641-242332642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141563837	chr1:242332642-242332643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576831260	chr1:242332671-242332672	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61357381	chr1:242332680-242332681	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556276609	chr1:242332694-242332695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs316891	chr1:242332714-242332715	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10803018	chr1:242332750-242332751	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560073931	chr1:242332776-242332777	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79118945	chr1:242332834-242332835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562342115	chr1:242332843-242332844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527848942	chr1:242332890-242332891	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs589333	chr1:242332894-242332895	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs569085	chr1:242332898-242332899	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532234240	chr1:242332928-242332929	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9970890	chr1:242332934-242332935	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs9970557	chr1:242332949-242332950	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531664588	chr1:242332962-242332963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12139740	chr1:242332976-242332977	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs568264909	chr1:242333007-242333008	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs61335602	chr1:242333015-242333016	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs112429840	chr1:242333031-242333032	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs371660095	chr1:242333043-242333044	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs374855266	chr1:242333125-242333126	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs113732721	chr1:242333126-242333127	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs539545529	chr1:242333139-242333140	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186963241	chr1:242333144-242333145	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs577464634	chr1:242333234-242333235	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs316890	chr1:242333265-242333266	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs316889	chr1:242333286-242333287	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs71570937	chr1:242333288-242333289	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs572682659	chr1:242333292-242333293	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs541684633	chr1:242333325-242333326	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs564666548	chr1:242333332-242333333	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs192828589	chr1:242333334-242333335	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs530149381	chr1:242333336-242333337	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs575108227	chr1:242333408-242333409	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs545565359	chr1:242333477-242333478	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs71570938	chr1:242333479-242333480	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242322000-242332400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:242327800-242351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:242331000-242334600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:242331200-242334400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
5	chr1:242331600-242341200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:242332400-242333000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:242333000-242333600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:242333000-242348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:242333400-242341000	Weak transcription	Aorta	Aorta
10	chr1:242339000-242341000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:242340400-242348200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:242341000-242341200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:242341000-242341200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:242341000-242341200	ZNF genes & repeats	Aorta	Aorta
15	chr1:242341000-242342000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr1:242341000-242344600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:242341000-242344600	Enhancers	Brain Substantia Nigra	brain
18	chr1:242341200-242341400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:242341200-242341400	Strong transcription	Aorta	Aorta
20	chr1:242341200-242342000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr1:242341200-242342000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:242341200-242342200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:242341200-242342600	Enhancers	Brain Angular Gyrus	brain
24	chr1:242341200-242343600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:242341200-242344000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:242341200-242344400	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:242341200-242344600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:242341200-242344600	Enhancers	Brain Hippocampus Middle	brain
29	chr1:242341400-242342000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:242341400-242342200	Weak transcription	Aorta	Aorta
31	chr1:242341400-242342800	Enhancers	Brain Germinal Matrix	brain
32	chr1:242341400-242343600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:242341400-242343600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:242341400-242343600	Enhancers	Brain Anterior Caudate	brain
35	chr1:242341400-242344400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:242341600-242342600	Enhancers	Fetal Brain Female	brain
37	chr1:242341600-242342800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:242341600-242343000	Enhancers	Fetal Brain Male	brain
39	chr1:242341600-242343600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr1:242341800-242342200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr1:242341800-242343000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr1:242341800-242343600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr1:242342000-242342200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr1:242342000-242342200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr1:242342000-242342600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:242342000-242348000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:242342000-242351000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:242342200-242342400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr1:242342200-242342600	Strong transcription	Aorta	Aorta
50	chr1:242342200-242342800	Enhancers	Cortex derived primary cultured neurospheres	brain

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