Variant report

Variant	nsv5243
Chromosome Location	chr1:246129396-246144578
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:246126390..246128678-chr1:246132301..246134356,2	K562	blood:
2	chr1:246134207..246135814-chr1:246149657..246151496,2	K562	blood:
3	chr1:246127855..246130595-chr1:246132443..246134267,2	K562	blood:
4	chr1:246130619..246132818-chr1:246134043..246137611,3	K562	blood:
5	chr1:246140596..246144250-chr1:246144492..246152738,12	K562	blood:
6	chr1:246113571..246115154-chr1:246143779..246145681,2	K562	blood:
7	chr1:246131436..246134219-chr1:246149088..246150607,2	K562	blood:
8	chr1:246136247..246139176-chr1:246140160..246143490,5	K562	blood:
9	chr1:246129149..246130792-chr1:246136104..246138621,2	K562	blood:
10	chr1:246129359..246131604-chr1:246142419..246144141,2	K562	blood:
11	chr1:246122598..246124565-chr1:246135159..246137741,2	K562	blood:
12	chr1:246140863..246143596-chr1:246281335..246283913,2	K562	blood:
13	chr1:246129149..246130792-chr1:246136104..246138621,2	K562	blood:
14	chr1:246125821..246128202-chr1:246128524..246131405,2	K562	blood:
15	chr1:246135463..246139176-chr1:246139758..246143490,7	K562	blood:
16	chr1:246136247..246139176-chr1:246140160..246143490,5	K562	blood:
17	chr1:246127855..246130595-chr1:246132443..246134267,2	K562	blood:
18	chr1:246129359..246131604-chr1:246142419..246144141,2	K562	blood:
19	chr1:246130619..246132818-chr1:246134043..246137611,3	K562	blood:
20	chr1:246135463..246139176-chr1:246139758..246143490,7	K562	blood:
21	chr1:246142546..246145301-chr1:246200971..246203957,2	K562	blood:
22	chr1:245417790..245419955-chr1:246144288..246146281,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185420	chromatin interactions

Extended variants
information (count: 725 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188480898	chr1:246129441-246129442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12565899	chr1:246129442-246129443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138817104	chr1:246129469-246129470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374366542	chr1:246129484-246129485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115514950	chr1:246129499-246129500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556830282	chr1:246129502-246129503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576725102	chr1:246129520-246129521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536118238	chr1:246129526-246129527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192948312	chr1:246129551-246129552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9287202	chr1:246129652-246129653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs117403479	chr1:246129670-246129671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201933931	chr1:246129673-246129674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142837477	chr1:246129689-246129690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150772300	chr1:246129691-246129692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553985671	chr1:246129696-246129697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183798875	chr1:246129729-246129730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529101358	chr1:246129743-246129744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539586444	chr1:246129751-246129752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187887952	chr1:246129754-246129755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139733237	chr1:246129759-246129760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191938784	chr1:246129790-246129791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551443215	chr1:246129794-246129795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375117584	chr1:246129797-246129798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114677027	chr1:246129917-246129918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78693319	chr1:246129929-246129930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371627677	chr1:246129952-246129953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183746262	chr1:246129983-246129984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10924417	chr1:246130023-246130024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535677378	chr1:246130059-246130060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377642252	chr1:246130075-246130076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556013359	chr1:246130098-246130099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141829312	chr1:246130111-246130112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188311019	chr1:246130134-246130135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192346353	chr1:246130189-246130190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184991839	chr1:246130252-246130253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77759369	chr1:246130266-246130267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544297160	chr1:246130346-246130347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527652266	chr1:246130349-246130350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557765903	chr1:246130371-246130372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577632813	chr1:246130372-246130373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56733002	chr1:246130423-246130424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs77757780	chr1:246130453-246130454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115670145	chr1:246130474-246130475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573740056	chr1:246130476-246130477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574453969	chr1:246130479-246130480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75590758	chr1:246130488-246130489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549124773	chr1:246130499-246130500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542498851	chr1:246130518-246130519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562005508	chr1:246130533-246130534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559597391	chr1:246130565-246130566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Multiple myeloma	16616336	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
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246103800-246132600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:246112600-246132000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:246118000-246132200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:246118000-246132200	Weak transcription	Psoas Muscle	Psoas
5	chr1:246118200-246132600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:246121000-246166200	Weak transcription	Primary T cells from cord blood	blood
7	chr1:246122400-246132000	Weak transcription	HSMM	muscle
8	chr1:246124800-246132000	Weak transcription	NHLF	lung
9	chr1:246125400-246132000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:246125600-246130600	Weak transcription	K562	blood
11	chr1:246125800-246133800	Weak transcription	Placenta	Placenta
12	chr1:246127600-246141200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:246127800-246132000	Weak transcription	Fetal Kidney	kidney
14	chr1:246127800-246132600	Weak transcription	HepG2	liver
15	chr1:246130600-246132800	Strong transcription	K562	blood
16	chr1:246131200-246143200	Weak transcription	Aorta	Aorta
17	chr1:246131400-246133200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:246131600-246133000	Enhancers	HSMMtube	muscle
19	chr1:246131600-246133200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:246131800-246132800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:246131800-246133000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:246131800-246133200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:246131800-246133400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:246131800-246133400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:246131800-246133400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:246131800-246133400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:246131800-246133400	Enhancers	NHDF-Ad	bronchial
28	chr1:246132000-246132200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:246132000-246132400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:246132000-246132600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:246132000-246132800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:246132000-246133000	Enhancers	Fetal Kidney	kidney
33	chr1:246132000-246133000	Enhancers	NHLF	lung
34	chr1:246132000-246133200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:246132000-246133200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr1:246132000-246133200	Enhancers	NH-A	brain
37	chr1:246132000-246133200	Enhancers	Osteobl	bone
38	chr1:246132000-246133400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:246132000-246133400	Enhancers	HSMM	muscle
40	chr1:246132200-246132800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:246132200-246133000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr1:246132200-246133000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:246132200-246133200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:246132400-246133000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:246132400-246133000	Enhancers	Brain Substantia Nigra	brain
46	chr1:246132400-246133000	Active TSS	Fetal Brain Male	brain
47	chr1:246132400-246133200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:246132400-246142800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:246132600-246132800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr1:246132600-246133000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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