Variant report

Variant	nsv945435
Chromosome Location	chr1:247023209-247024609
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186748646	chr1:247023224-247023225	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191599931	chr1:247023238-247023239	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185593558	chr1:247023248-247023249	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530922496	chr1:247023249-247023250	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559712478	chr1:247023275-247023276	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550633113	chr1:247023302-247023303	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576239928	chr1:247023304-247023305	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567528111	chr1:247023310-247023311	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536470162	chr1:247023330-247023331	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57201275	chr1:247023354-247023355	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543662653	chr1:247023355-247023356	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566580911	chr1:247023372-247023373	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562043281	chr1:247023381-247023382	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190518781	chr1:247023391-247023392	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193268311	chr1:247023428-247023429	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76579350	chr1:247023491-247023492	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575173036	chr1:247023494-247023495	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569149673	chr1:247023497-247023498	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs398054019	chr1:247023499-247023500	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs397983635	chr1:247023500-247023501	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200562886	chr1:247023501-247023502	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544181065	chr1:247023514-247023515	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61853994	chr1:247023536-247023537	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143868238	chr1:247023543-247023544	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147242943	chr1:247023551-247023552	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559728735	chr1:247023559-247023560	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559482166	chr1:247023583-247023584	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141067633	chr1:247023629-247023630	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142432026	chr1:247023645-247023646	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565362563	chr1:247023706-247023707	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530836421	chr1:247023710-247023711	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550921635	chr1:247023725-247023726	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1630829	chr1:247023866-247023867	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529975762	chr1:247023959-247023960	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs41304042	chr1:247024004-247024005	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566717919	chr1:247024027-247024028	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563430166	chr1:247024063-247024064	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553636677	chr1:247024076-247024077	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185059329	chr1:247024111-247024112	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568913541	chr1:247024122-247024123	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376540570	chr1:247024173-247024174	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530726178	chr1:247024235-247024236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537465278	chr1:247024252-247024253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148778024	chr1:247024262-247024263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs41308196	chr1:247024288-247024289	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs373619574	chr1:247024294-247024295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188976481	chr1:247024324-247024325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs41304151	chr1:247024326-247024327	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573133006	chr1:247024335-247024336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151038417	chr1:247024342-247024343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	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
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

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247002000-247038200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:247002200-247031400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:247002200-247033800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:247002200-247034200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:247002200-247082400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:247002400-247081000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:247002800-247032600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:247002800-247043200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:247003200-247029200	Strong transcription	Fetal Thymus	thymus
10	chr1:247003200-247042200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:247003200-247042800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:247003400-247043000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:247003400-247044600	Strong transcription	Dnd41	blood
14	chr1:247004000-247040800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:247004000-247041200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr1:247004000-247042800	Strong transcription	Primary T cells from cord blood	blood
17	chr1:247004000-247053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:247004200-247025200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:247004200-247025400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:247004200-247042400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr1:247004200-247042800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:247004200-247043000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:247004200-247044400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:247004200-247044400	Strong transcription	Liver	Liver
25	chr1:247004200-247083400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:247004400-247025200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:247004400-247025200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr1:247004400-247025400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:247004400-247025600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:247004400-247043000	Strong transcription	Adipose Nuclei	Adipose
31	chr1:247004400-247044600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:247005200-247025600	Strong transcription	Fetal Muscle Leg	muscle
33	chr1:247005200-247079800	Weak transcription	Stomach Mucosa	stomach
34	chr1:247005800-247025400	Strong transcription	Primary B cells from cord blood	blood
35	chr1:247005800-247025400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr1:247006000-247029000	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr1:247006600-247071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:247008800-247027800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:247009000-247025200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr1:247009000-247025200	Strong transcription	Placenta	Placenta
41	chr1:247009200-247024800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:247009600-247031000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:247010000-247041200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:247010600-247025400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:247010600-247025600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr1:247010600-247029000	Strong transcription	Osteobl	bone
47	chr1:247011800-247024000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:247012000-247025400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:247012000-247025600	Strong transcription	K562	blood
50	chr1:247012200-247025200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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