Variant report

Variant	nsv523759
Chromosome Location	chr1:226923505-226923938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs708776	chr1:226923505-226923506	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371000081	chr1:226923525-226923526	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs149543375	chr1:226923526-226923527	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs56336740	chr1:226923535-226923536	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs541198818	chr1:226923554-226923555	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552789538	chr1:226923556-226923557	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs374636230	chr1:226923582-226923583	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs143869693	chr1:226923585-226923586	Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs541675872	chr1:226923649-226923650	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs563266870	chr1:226923655-226923656	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs530493513	chr1:226923669-226923670	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201909512	chr1:226923679-226923680	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545516725	chr1:226923680-226923681	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs376931152	chr1:226923682-226923683	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs199950711	chr1:226923687-226923688	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs146213841	chr1:226923705-226923706	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs531505083	chr1:226923741-226923742	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs200706684	chr1:226923745-226923746	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs200314048	chr1:226923749-226923750	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs528224612	chr1:226923757-226923758	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs370595082	chr1:226923778-226923779	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs35823273	chr1:226923779-226923780	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs373903959	chr1:226923799-226923800	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs145686852	chr1:226923801-226923802	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs145422821	chr1:226923813-226923814	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs377390753	chr1:226923831-226923832	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs199875970	chr1:226923837-226923838	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs550313561	chr1:226923861-226923862	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs374372124	chr1:226923871-226923872	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs201162163	chr1:226923887-226923888	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs202027962	chr1:226923889-226923890	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs530318369	chr1:226923899-226923900	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs200399460	chr1:226923911-226923912	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs368522487	chr1:226923923-226923924	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs200121771	chr1:226923930-226923931	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs6667260	chr1:226923938-226923939	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Prostate cancer	18632612	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
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	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
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226891800-226924800	Weak transcription	Aorta	Aorta
2	chr1:226909800-226924200	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr1:226910000-226925000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr1:226912200-226923600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:226912400-226924600	Weak transcription	Ovary	ovary
6	chr1:226912800-226925400	Weak transcription	Stomach Mucosa	stomach
7	chr1:226915000-226925000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
8	chr1:226916800-226924200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:226918600-226925000	Transcr. at gene 5' and 3'	Thymus	Thymus
10	chr1:226918800-226925000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
11	chr1:226918800-226925800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:226919200-226924400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:226919400-226924000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:226920000-226925200	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:226920200-226924000	Genic enhancers	Primary hematopoietic stem cells	blood
16	chr1:226920400-226923600	Enhancers	Small Intestine	intestine
17	chr1:226920400-226924200	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr1:226920400-226924400	Genic enhancers	Spleen	Spleen
19	chr1:226920400-226924600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:226920400-226924600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:226920400-226924600	Genic enhancers	Fetal Lung	lung
22	chr1:226920400-226924800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
23	chr1:226920400-226924800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
24	chr1:226920400-226925000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
25	chr1:226920400-226927000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
26	chr1:226920600-226923600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
27	chr1:226920600-226923800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
28	chr1:226920600-226924400	Genic enhancers	Primary monocytes fromperipheralblood	blood
29	chr1:226920600-226924600	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
30	chr1:226920600-226924800	Strong transcription	NHEK	skin
31	chr1:226920600-226925000	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:226920600-226925000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:226920600-226925000	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
34	chr1:226920800-226927200	Active TSS	Psoas Muscle	Psoas
35	chr1:226921000-226923600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:226921000-226924000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:226921000-226924800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:226921000-226927600	Active TSS	Right Atrium	heart
39	chr1:226921200-226923800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:226921200-226924800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:226921600-226923600	Transcr. at gene 5' and 3'	Left Ventricle	heart
42	chr1:226921600-226924600	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
43	chr1:226921600-226924600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
44	chr1:226921800-226923800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
45	chr1:226921800-226924400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:226921800-226924400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
47	chr1:226921800-226924600	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
48	chr1:226922000-226923600	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
49	chr1:226922000-226923800	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
50	chr1:226922000-226924200	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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