Variant report

Variant	nsv947368
Chromosome Location	chr1:197583911-197587403
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197581999..197584839-chr1:197586901..197591270,6	K562	blood:
2	chr1:197584129..197584940-chr1:197893429..197894167,4	MCF-7	breast:
3	chr1:197584245..197585109-chr1:197893726..197894310,2	MCF-7	breast:
4	chr1:197583946..197585840-chr1:197589474..197591778,2	MCF-7	breast:
5	chr1:197580216..197582177-chr1:197584610..197586308,2	K562	blood:
6	chr1:197584187..197584859-chr1:197884586..197885167,2	MCF-7	breast:
7	chr1:197570884..197572523-chr1:197584581..197587498,2	K562	blood:
8	chr1:197584116..197584704-chr1:197837725..197838549,2	K562	blood:
9	chr1:197581999..197584839-chr1:197586901..197591270,6	K562	blood:
10	chr1:197584970..197586842-chr1:197870772..197872355,2	K562	blood:
11	chr1:197576695..197578475-chr1:197584193..197586595,2	K562	blood:
12	chr1:197583852..197585003-chr1:197884312..197885694,6	MCF-7	breast:
13	chr1:197583975..197584970-chr1:197837652..197838487,2	MCF-7	breast:
14	chr1:197580036..197581716-chr1:197583304..197586110,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203724	chromatin interactions
ENSG00000143355	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114468168	chr1:197583918-197583919	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs80061485	chr1:197583927-197583928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145384108	chr1:197583941-197583942	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187498018	chr1:197583942-197583943	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190823605	chr1:197584028-197584029	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576481671	chr1:197584030-197584031	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184159466	chr1:197584061-197584062	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528258534	chr1:197584145-197584146	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546740815	chr1:197584180-197584181	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561756653	chr1:197584235-197584236	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371169081	chr1:197584249-197584250	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550641176	chr1:197584254-197584255	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570061834	chr1:197584316-197584317	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1362940	chr1:197584317-197584318	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552684983	chr1:197584403-197584404	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570920571	chr1:197584462-197584463	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs147688383	chr1:197584467-197584468	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542082742	chr1:197584474-197584475	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs6667565	chr1:197584541-197584542	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574945405	chr1:197584545-197584546	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12744898	chr1:197584553-197584554	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530713933	chr1:197584557-197584558	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187506168	chr1:197584635-197584636	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574874629	chr1:197584651-197584652	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545429511	chr1:197584683-197584684	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116799689	chr1:197584702-197584703	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192745843	chr1:197584722-197584723	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539957579	chr1:197584730-197584731	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561909075	chr1:197584734-197584735	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs142405015	chr1:197584736-197584737	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371299879	chr1:197584772-197584773	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574152060	chr1:197584841-197584842	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562805144	chr1:197584851-197584852	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184585500	chr1:197584860-197584861	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs552575191	chr1:197584918-197584919	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs570758503	chr1:197584978-197584979	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535074857	chr1:197585071-197585072	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34780947	chr1:197585077-197585078	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565389898	chr1:197585079-197585080	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373707814	chr1:197585088-197585089	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568637426	chr1:197585095-197585096	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535700768	chr1:197585126-197585127	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557215983	chr1:197585172-197585173	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs367628289	chr1:197585224-197585225	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575499420	chr1:197585270-197585271	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539767215	chr1:197585288-197585289	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557285399	chr1:197585324-197585325	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs74503979	chr1:197585339-197585340	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs540318278	chr1:197585468-197585469	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149803029	chr1:197585470-197585471	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	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
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	20472715	CNVD
Multiple myeloma	16461302	CNVD
Leukoplakia	24403051	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197508400-197602400	Weak transcription	Left Ventricle	heart
2	chr1:197537400-197602200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:197537800-197585600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:197541800-197602400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:197541800-197602600	Weak transcription	Fetal Thymus	thymus
6	chr1:197542000-197609000	Weak transcription	Colonic Mucosa	Colon
7	chr1:197542000-197626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:197544400-197602400	Weak transcription	Primary B cells from cord blood	blood
9	chr1:197547000-197587200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:197547400-197602400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:197551400-197585600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:197553000-197585400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:197553000-197629800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:197560200-197585400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:197560200-197591400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:197561200-197584400	Weak transcription	Liver	Liver
17	chr1:197561200-197585400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:197561400-197589800	Weak transcription	Fetal Intestine Large	intestine
19	chr1:197564400-197585400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:197564400-197585600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:197564600-197585400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:197564800-197584000	Weak transcription	Dnd41	blood
23	chr1:197564800-197590000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:197564800-197599200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:197564800-197599400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:197565000-197611600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:197569600-197590000	Weak transcription	Pancreas	Pancrea
28	chr1:197570200-197590000	Weak transcription	Psoas Muscle	Psoas
29	chr1:197574000-197587000	Weak transcription	Fetal Lung	lung
30	chr1:197576400-197584200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:197578600-197611000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:197579000-197599000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:197579400-197599000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:197581000-197602600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:197581600-197588400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:197583000-197585600	Weak transcription	NHEK	skin
37	chr1:197583200-197585600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:197583400-197585800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:197583800-197584600	Strong transcription	Primary T cells from cord blood	blood
40	chr1:197583800-197586600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:197583800-197599000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:197584000-197584200	Weak transcription	Fetal Heart	heart
43	chr1:197584000-197584400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr1:197584000-197587600	Strong transcription	Dnd41	blood
45	chr1:197584200-197584400	Enhancers	Fetal Heart	heart
46	chr1:197584200-197586800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:197584200-197587000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:197584400-197584600	Enhancers	Liver	Liver
49	chr1:197584400-197586800	Weak transcription	Fetal Heart	heart
50	chr1:197584400-197587200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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