Variant report

Variant	nsv826575
Chromosome Location	chr1:213040889-213042359
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:213002092..213003822-chr1:213040039..213042148,2	K562	blood:
2	chr1:213040115..213041800-chr1:213054339..213055874,2	K562	blood:
3	chr1:213030296..213033597-chr1:213041036..213045224,4	MCF-7	breast:
4	chr1:213040300..213042691-chr1:213054339..213056368,2	K562	blood:
5	chr1:213031272..213038020-chr1:213040720..213048331,10	K562	blood:
6	chr1:213032682..213037696-chr1:213038069..213043473,6	K562	blood:
7	chr1:213039761..213041483-chr1:213052731..213054892,2	MCF-7	breast:
8	chr1:213001465..213003584-chr1:213040615..213043476,2	MCF-7	breast:
9	chr1:213039818..213042123-chr1:213045133..213047613,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162769	chromatin interactions
ENSG00000198468	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7544198	chr1:213040929-213040930	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539202127	chr1:213040949-213040950	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs181344793	chr1:213040975-213040976	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs17019818	chr1:213041025-213041026	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs567168550	chr1:213041086-213041087	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs1284857	chr1:213041131-213041132	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141462908	chr1:213041145-213041146	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs34803914	chr1:213041147-213041148	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs112609700	chr1:213041149-213041150	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs76529773	chr1:213041162-213041163	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs397861878	chr1:213041163-213041164	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs78362340	chr1:213041164-213041165	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs374321926	chr1:213041170-213041171	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs7523527	chr1:213041202-213041203	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs566711810	chr1:213041208-213041209	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs546764776	chr1:213041220-213041221	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs185578657	chr1:213041238-213041239	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs10864016	chr1:213041270-213041271	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs537456770	chr1:213041286-213041287	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs556156786	chr1:213041294-213041295	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs10864017	chr1:213041295-213041296	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs541568496	chr1:213041302-213041303	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs575103431	chr1:213041306-213041307	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs182868764	chr1:213041321-213041322	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs540497602	chr1:213041328-213041329	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs544304490	chr1:213041334-213041335	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs532876154	chr1:213041335-213041336	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs544258972	chr1:213041366-213041367	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs186595272	chr1:213041387-213041388	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs530127729	chr1:213041395-213041396	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs557521293	chr1:213041397-213041398	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs548709676	chr1:213041415-213041416	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs566620442	chr1:213041422-213041423	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs10864018	chr1:213041440-213041441	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs191938640	chr1:213041447-213041448	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs570638129	chr1:213041535-213041536	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs10864019	chr1:213041536-213041537	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs555879957	chr1:213041555-213041556	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs182994186	chr1:213041572-213041573	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs535132668	chr1:213041631-213041632	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs77889714	chr1:213041653-213041654	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs573068525	chr1:213041734-213041735	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540411211	chr1:213041749-213041750	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574364362	chr1:213041750-213041751	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs559135095	chr1:213041832-213041833	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs1874419	chr1:213041841-213041842	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs544930183	chr1:213041905-213041906	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs187529594	chr1:213041912-213041913	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs192618611	chr1:213041976-213041977	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs568211546	chr1:213041982-213041983	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
Acute lymphoblastic leukemia	17443227	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213032600-213046400	Weak transcription	Ovary	ovary
2	chr1:213032600-213049200	Weak transcription	Right Atrium	heart
3	chr1:213032600-213073000	Weak transcription	Colonic Mucosa	Colon
4	chr1:213032600-213073000	Weak transcription	Esophagus	oesophagus
5	chr1:213032800-213046400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:213032800-213048000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:213032800-213056800	Weak transcription	Fetal Thymus	thymus
8	chr1:213032800-213057800	Weak transcription	Placenta	Placenta
9	chr1:213032800-213061800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:213032800-213062000	Weak transcription	Psoas Muscle	Psoas
11	chr1:213033400-213046800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:213033400-213046800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:213033600-213046800	Weak transcription	Liver	Liver
14	chr1:213033600-213048600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:213033600-213062000	Weak transcription	Thymus	Thymus
16	chr1:213034400-213041200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:213034400-213044800	Weak transcription	HSMMtube	muscle
18	chr1:213034400-213046200	Weak transcription	Fetal Lung	lung
19	chr1:213034400-213046600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:213034400-213046600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:213034400-213048200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:213034400-213048400	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:213034400-213058000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:213034400-213068000	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:213034600-213041400	Weak transcription	Fetal Stomach	stomach
26	chr1:213034600-213044200	Weak transcription	Aorta	Aorta
27	chr1:213034600-213044800	Weak transcription	Left Ventricle	heart
28	chr1:213034600-213044800	Weak transcription	Pancreas	Pancrea
29	chr1:213034600-213046000	Weak transcription	HMEC	breast
30	chr1:213034600-213046400	Weak transcription	Brain Anterior Caudate	brain
31	chr1:213034600-213046400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:213034600-213046600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr1:213034600-213046800	Weak transcription	Primary B cells from cord blood	blood
34	chr1:213034600-213046800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:213034600-213046800	Weak transcription	NHDF-Ad	bronchial
36	chr1:213034600-213047400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:213034600-213048000	Weak transcription	Spleen	Spleen
38	chr1:213034600-213048600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:213034600-213048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:213034600-213049200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:213034600-213049200	Weak transcription	Lung	lung
42	chr1:213034600-213049400	Weak transcription	Gastric	stomach
43	chr1:213034600-213056200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:213034600-213057000	Weak transcription	Brain Substantia Nigra	brain
45	chr1:213034600-213057000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:213034600-213057200	Weak transcription	Right Ventricle	heart
47	chr1:213034600-213061800	Weak transcription	Fetal Heart	heart
48	chr1:213034600-213067800	Weak transcription	NHLF	lung
49	chr1:213034600-213070600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:213034800-213041400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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