Variant report

Variant	nsv825431
Chromosome Location	chr1:173974359-173976154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173969540..173974607-chr1:173987026..173993006,8	MCF-7	breast:
2	chr1:173975275..173977152-chr1:173983041..173985333,2	K562	blood:
3	chr1:173975468..173978620-chr1:173989842..173993310,3	K562	blood:
4	chr1:173970352..173972898-chr1:173974033..173976083,2	MCF-7	breast:
5	chr1:173791497..173794247-chr1:173975403..173977054,2	K562	blood:
6	chr1:173974072..173982740-chr1:173986260..173992598,12	MCF-7	breast:
7	chr1:173974909..173980524-chr1:173986982..173992490,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120334	chromatin interactions
ENSG00000135870	chromatin interactions
ENSG00000224977	chromatin interactions
ENSG00000117593	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192396961	chr1:173974448-173974449	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs550109627	chr1:173974461-173974462	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs570057762	chr1:173974472-173974473	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs76168660	chr1:173974495-173974496	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs148662842	chr1:173974545-173974546	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184768540	chr1:173974583-173974584	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs114695286	chr1:173974590-173974591	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs534828486	chr1:173974592-173974593	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs555097402	chr1:173974603-173974604	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs187937879	chr1:173974618-173974619	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs3980286	chr1:173974625-173974626	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs191977812	chr1:173974752-173974753	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs575609023	chr1:173974840-173974841	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs545024121	chr1:173974849-173974850	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs564745740	chr1:173974861-173974862	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572377872	chr1:173974891-173974892	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs527354703	chr1:173974899-173974900	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs35399755	chr1:173974908-173974909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs540774533	chr1:173975036-173975037	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs142133840	chr1:173975064-173975065	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs529956491	chr1:173975065-173975066	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs369332860	chr1:173975071-173975072	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs541083136	chr1:173975101-173975102	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs184720704	chr1:173975246-173975247	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569994952	chr1:173975268-173975269	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs188640637	chr1:173975303-173975304	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs552516125	chr1:173975366-173975367	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs151171739	chr1:173975379-173975380	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs181540918	chr1:173975423-173975424	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs184230685	chr1:173975493-173975494	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs140263265	chr1:173975509-173975510	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs537273942	chr1:173975627-173975628	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs61826783	chr1:173975631-173975632	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs557218039	chr1:173975632-173975633	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs74126486	chr1:173975637-173975638	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs115646469	chr1:173975683-173975684	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs529100737	chr1:173975704-173975705	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs75336078	chr1:173975709-173975710	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs542912766	chr1:173975808-173975809	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs146412504	chr1:173975821-173975822	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs541111249	chr1:173975846-173975847	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs561013954	chr1:173975849-173975850	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs571577555	chr1:173975862-173975863	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs529894176	chr1:173975889-173975890	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs61826784	chr1:173975939-173975940	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs563493942	chr1:173976006-173976007	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs189348729	chr1:173976007-173976008	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs552197641	chr1:173976014-173976015	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs559687954	chr1:173976063-173976064	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs111891666	chr1:173976068-173976069	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD
Autism	22495309	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173915600-173977800	Weak transcription	Stomach Mucosa	stomach
2	chr1:173942200-173986200	Weak transcription	Fetal Brain Male	brain
3	chr1:173958600-173987200	Weak transcription	Gastric	stomach
4	chr1:173962000-173975000	Weak transcription	Right Ventricle	heart
5	chr1:173962000-173988400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:173962200-173976600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:173962200-173976800	Weak transcription	NH-A	brain
8	chr1:173962200-173977200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:173962200-173978400	Weak transcription	Colonic Mucosa	Colon
10	chr1:173962200-173978600	Weak transcription	Lung	lung
11	chr1:173962200-173983200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:173962200-173984200	Weak transcription	Primary T cells from cord blood	blood
13	chr1:173962200-173989000	Weak transcription	Fetal Kidney	kidney
14	chr1:173962200-173989600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:173962200-173989600	Weak transcription	Aorta	Aorta
16	chr1:173962200-173989800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:173962200-173990400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:173962400-173977400	Weak transcription	Hela-S3	cervix
19	chr1:173962400-173987800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:173962600-173974600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:173962600-173986000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:173962600-173988400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:173962600-173988600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:173962600-173989400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:173962800-173989800	Weak transcription	Placenta	Placenta
26	chr1:173963800-173975000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:173965000-173989600	Weak transcription	Fetal Thymus	thymus
28	chr1:173965200-173986600	Weak transcription	HUVEC	blood vessel
29	chr1:173966200-173977600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:173966200-173981000	Weak transcription	Pancreas	Pancrea
31	chr1:173966200-173986200	Weak transcription	Fetal Brain Female	brain
32	chr1:173966200-173989800	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:173966400-173974600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:173966400-173976600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:173966400-173976600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:173966400-173976600	Weak transcription	K562	blood
37	chr1:173966400-173976800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:173966400-173978400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:173966400-173978400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:173966400-173986600	Weak transcription	Thymus	Thymus
41	chr1:173966400-173987800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:173966400-173989600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:173966400-173989800	Weak transcription	Esophagus	oesophagus
44	chr1:173967800-173974400	Weak transcription	A549	lung
45	chr1:173967800-173987600	Weak transcription	Brain Germinal Matrix	brain
46	chr1:173968200-173978400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr1:173968400-173976600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:173968400-173983200	Weak transcription	Fetal Intestine Small	intestine
49	chr1:173968400-173987200	Weak transcription	Fetal Intestine Large	intestine
50	chr1:173969000-173983000	Weak transcription	HepG2	liver

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