Variant report

Variant	nsv522400
Chromosome Location	chr1:197727298-197733055
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197732032..197734793-chr1:197742624..197745679,4	MCF-7	breast:
2	chr1:197684119..197686608-chr1:197731962..197734836,2	MCF-7	breast:
3	chr1:197732668..197735074-chr1:197783353..197785359,2	MCF-7	breast:
4	chr1:197730915..197735254-chr1:197735457..197740919,5	K562	blood:
5	chr1:197724120..197727338-chr1:197727664..197731046,4	K562	blood:
6	chr1:197722193..197724114-chr1:197726600..197728818,2	K562	blood:
7	chr1:197732480..197733025-chr1:197884922..197885526,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf53-1	chr1:197730932-197731095	ENSG00000224901.1

No data

Variant related genes	Relation type
ENSG00000224901	chromatin interactions
ENSG00000143355	chromatin interactions
ENSG00000213047	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1775454	chr1:197727298-197727299	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535318015	chr1:197727300-197727301	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114356669	chr1:197727327-197727328	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572092229	chr1:197727353-197727354	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569071178	chr1:197727356-197727357	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539703110	chr1:197727415-197727416	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576306842	chr1:197727421-197727422	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192882661	chr1:197727424-197727425	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541424597	chr1:197727433-197727434	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141788625	chr1:197727435-197727436	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543644187	chr1:197727488-197727489	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16841925	chr1:197727494-197727495	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185430314	chr1:197727507-197727508	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563867463	chr1:197727510-197727511	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575537725	chr1:197727533-197727534	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190303830	chr1:197727556-197727557	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77590973	chr1:197727599-197727600	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532522025	chr1:197727619-197727620	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1998598	chr1:197727642-197727643	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
20	rs559365443	chr1:197727657-197727658	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546553390	chr1:197727727-197727728	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561649498	chr1:197727775-197727776	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs74688795	chr1:197727776-197727777	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550510366	chr1:197727803-197727804	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114195748	chr1:197727822-197727823	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs138524420	chr1:197727947-197727948	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113650561	chr1:197727996-197727997	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12239697	chr1:197728120-197728121	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548144120	chr1:197728122-197728123	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs144116026	chr1:197728139-197728140	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1775455	chr1:197728140-197728141	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs55995691	chr1:197728169-197728170	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs182478062	chr1:197728251-197728252	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148195034	chr1:197728258-197728259	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs199746467	chr1:197728276-197728277	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371746289	chr1:197728282-197728283	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs80131051	chr1:197728334-197728335	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs372696714	chr1:197728412-197728413	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575474451	chr1:197728428-197728429	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139137441	chr1:197728438-197728439	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564468416	chr1:197728550-197728551	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200415797	chr1:197728555-197728556	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185178568	chr1:197728619-197728620	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188333067	chr1:197728733-197728734	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs2477065	chr1:197728734-197728735	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561683655	chr1:197728745-197728746	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs528981695	chr1:197728771-197728772	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs181107113	chr1:197728797-197728798	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562558976	chr1:197728798-197728799	Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185697652	chr1:197728827-197728828	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197695800-197732800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:197695800-197742200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:197702800-197743800	Weak transcription	Esophagus	oesophagus
4	chr1:197706600-197729400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:197706800-197741800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:197708400-197729800	Weak transcription	NHEK	skin
7	chr1:197712200-197731000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:197712200-197741600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:197712200-197742000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:197713000-197732800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:197713000-197734000	Weak transcription	Fetal Thymus	thymus
12	chr1:197713800-197733000	Weak transcription	Aorta	Aorta
13	chr1:197714400-197731600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:197714400-197743800	Weak transcription	Spleen	Spleen
15	chr1:197714600-197727400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:197714600-197729800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:197714600-197730000	Weak transcription	Primary B cells from cord blood	blood
18	chr1:197714600-197741600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:197714600-197742400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:197714600-197743600	Weak transcription	Ovary	ovary
21	chr1:197715400-197740000	Weak transcription	Left Ventricle	heart
22	chr1:197715400-197741800	Weak transcription	Gastric	stomach
23	chr1:197715600-197738400	Weak transcription	Pancreas	Pancrea
24	chr1:197716800-197731400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:197716800-197737000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:197717000-197730400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:197717000-197737200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:197717800-197727400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:197718400-197732000	Weak transcription	K562	blood
30	chr1:197718400-197740200	Weak transcription	NHDF-Ad	bronchial
31	chr1:197718600-197741800	Weak transcription	Osteobl	bone
32	chr1:197719200-197743800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:197720000-197731200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:197720200-197730800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:197720200-197731400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:197720200-197740600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:197720400-197728800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:197720400-197730400	Weak transcription	Primary T cells from cord blood	blood
39	chr1:197721200-197743000	Weak transcription	Fetal Kidney	kidney
40	chr1:197722600-197740800	Weak transcription	Fetal Lung	lung
41	chr1:197722800-197736800	Weak transcription	Liver	Liver
42	chr1:197723000-197730000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:197723400-197732800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:197723800-197732000	Weak transcription	Fetal Intestine Small	intestine
45	chr1:197724200-197728600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:197724200-197729200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:197725400-197730800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:197725800-197730000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:197725800-197730400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:197726200-197728000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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