Variant report

Variant	nsv872875
Chromosome Location	chr1:194590401-194676971
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:194606466..194608189-chr1:194645387..194647364,2	K562	blood:
2	chr1:194666221..194668363-chr1:194676352..194679287,2	K562	blood:
3	chr1:194625999..194627526-chr1:194632822..194634735,2	K562	blood:
4	chr1:194627100..194628913-chr1:194635785..194637890,2	K562	blood:
5	chr1:194647825..194650352-chr1:194653770..194656490,2	K562	blood:
6	chr1:194625855..194628671-chr1:194827046..194829972,3	K562	blood:
7	chr1:194599074..194600731-chr1:194604037..194606753,2	K562	blood:
8	chr1:194617591..194619813-chr1:194622946..194624693,2	K562	blood:
9	chr1:194612527..194614953-chr1:194616786..194619309,3	K562	blood:
10	chr1:194630620..194633320-chr1:194634573..194637306,2	K562	blood:
11	chr1:194617867..194623924-chr1:194625130..194627689,6	K562	blood:
12	chr1:194665790..194668787-chr1:194669663..194672481,2	K562	blood:
13	chr1:194627447..194629512-chr1:194630177..194631698,2	K562	blood:
14	chr1:194647996..194650865-chr1:194651432..194653062,2	K562	blood:
15	chr1:194664202..194668787-chr1:194669381..194672481,4	K562	blood:
16	chr1:194617591..194619361-chr1:194621923..194624446,2	K562	blood:
17	chr1:194665790..194668787-chr1:194669663..194672481,2	K562	blood:
18	chr1:194612527..194614953-chr1:194616786..194619309,3	K562	blood:
19	chr1:194624614..194627443-chr1:194667316..194668924,2	K562	blood:
20	chr1:194630620..194633320-chr1:194634573..194637306,2	K562	blood:
21	chr1:194617591..194619813-chr1:194622946..194624693,2	K562	blood:
22	chr1:194647996..194650865-chr1:194651432..194653062,2	K562	blood:
23	chr1:194614011..194616413-chr1:194837683..194840680,2	K562	blood:
24	chr1:194666221..194668363-chr1:194676352..194679287,2	K562	blood:
25	chr1:194627100..194628913-chr1:194635785..194637890,2	K562	blood:
26	chr1:194603761..194606610-chr1:194613732..194616583,2	K562	blood:
27	chr1:194625999..194627526-chr1:194632822..194634735,2	K562	blood:
28	chr1:194599074..194600731-chr1:194604037..194606753,2	K562	blood:
29	chr1:194664202..194668787-chr1:194669381..194672481,4	K562	blood:
30	chr1:194645953..194649314-chr1:194649785..194652576,3	K562	blood:
31	chr1:194674960..194679319-chr1:194679735..194682692,3	K562	blood:
32	chr1:194627447..194629512-chr1:194630177..194631698,2	K562	blood:
33	chr1:194617867..194623924-chr1:194625130..194627689,6	K562	blood:
34	chr1:194626043..194628671-chr1:194827977..194829972,2	K562	blood:
35	chr1:194624614..194627443-chr1:194667316..194668924,2	K562	blood:
36	chr1:194624819..194626729-chr1:194711630..194714055,2	K562	blood:
37	chr1:194647825..194650352-chr1:194653770..194656490,2	K562	blood:
38	chr1:194603761..194606610-chr1:194613732..194616583,2	K562	blood:
39	chr1:194614073..194616914-chr1:194621058..194622953,2	K562	blood:
40	chr1:194645953..194649314-chr1:194649785..194652576,3	K562	blood:
41	chr1:194614073..194616914-chr1:194621058..194622953,2	K562	blood:
42	chr1:194617591..194619361-chr1:194621923..194624446,2	K562	blood:
43	chr1:194624991..194627301-chr1:194776393..194778784,2	K562	blood:
44	chr1:194606466..194608189-chr1:194645387..194647364,2	K562	blood:

No data

Extended variants
information (count: 851 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:851 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371068085	chr1:194594236-194594237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553351230	chr1:194594238-194594239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373733273	chr1:194594257-194594258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376029412	chr1:194594259-194594260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3009347	chr1:194594270-194594271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs79626817	chr1:194594311-194594312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557290977	chr1:194594317-194594318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112306556	chr1:194594341-194594342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573921059	chr1:194594397-194594398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570304641	chr1:194626201-194626202	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs114518410	chr1:194626212-194626213	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs549396408	chr1:194626238-194626239	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs189906845	chr1:194626242-194626243	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs72739069	chr1:194626249-194626250	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs556707092	chr1:194626281-194626282	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs111239930	chr1:194626312-194626313	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs113798991	chr1:194626313-194626314	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs187665868	chr1:194626384-194626385	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs373858498	chr1:194626386-194626387	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs545653993	chr1:194626433-194626434	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs76769346	chr1:194626446-194626447	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs115017546	chr1:194626476-194626477	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs540761830	chr1:194626532-194626533	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs367666877	chr1:194626544-194626545	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs191547365	chr1:194626550-194626551	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs3009369	chr1:194626567-194626568	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs141868936	chr1:194626603-194626604	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs563029585	chr1:194626660-194626661	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs533668640	chr1:194626691-194626692	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs72739070	chr1:194626713-194626714	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570073549	chr1:194626730-194626731	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs150621306	chr1:194626741-194626742	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs140007945	chr1:194626751-194626752	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs546700370	chr1:194626754-194626755	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs375678438	chr1:194626755-194626756	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs183498368	chr1:194626759-194626760	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs550372541	chr1:194626761-194626762	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368431595	chr1:194626762-194626763	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs73065250	chr1:194626782-194626783	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539771635	chr1:194626792-194626793	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs557760676	chr1:194626797-194626798	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs573224047	chr1:194626798-194626799	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs146043594	chr1:194626800-194626801	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs555771443	chr1:194626804-194626805	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574199203	chr1:194626857-194626858	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185887234	chr1:194626861-194626862	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71147544	chr1:194626872-194626873	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565220316	chr1:194626883-194626884	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555036387	chr1:194626889-194626890	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146442606	chr1:194626891-194626892	Active TSS Enhancers	n/a	n/a	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
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
Ovarian neoplasms	16753589	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
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194594200-194594400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:194626200-194626400	Active TSS	K562	blood
3	chr1:194626400-194626800	Flanking Active TSS	K562	blood
4	chr1:194626600-194627200	Active TSS	Placenta	Placenta
5	chr1:194626600-194627400	Enhancers	HepG2	liver
6	chr1:194626800-194627800	Active TSS	K562	blood
7	chr1:194627000-194627600	Enhancers	HMEC	breast
8	chr1:194627800-194628200	Enhancers	K562	blood
9	chr1:194637200-194644800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:194643000-194643400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:194644800-194645000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:194648000-194649200	Enhancers	Fetal Lung	lung
13	chr1:194648800-194649200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:194667800-194668200	Enhancers	Ovary	ovary
15	chr1:194668000-194668800	Active TSS	K562	blood
16	chr1:194668200-194668600	Active TSS	Ovary	ovary
17	chr1:194668200-194668800	Enhancers	Fetal Heart	heart
18	chr1:194668800-194669600	Weak transcription	K562	blood
19	chr1:194669400-194670000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:194669600-194670000	Enhancers	K562	blood
21	chr1:194670000-194671000	Weak transcription	K562	blood
22	chr1:194670000-194674400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:194671000-194671200	Enhancers	K562	blood
24	chr1:194674000-194675000	Enhancers	Fetal Lung	lung
25	chr1:194674200-194674600	Enhancers	Brain Hippocampus Middle	brain
26	chr1:194674200-194674800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:194674200-194674800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:194674200-194675000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:194674400-194675000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:194674400-194675000	Active TSS	Ovary	ovary
31	chr1:194674600-194675000	Active TSS	Brain Cingulate Gyrus	brain
32	chr1:194674600-194675000	Active TSS	Brain Hippocampus Middle	brain
33	chr1:194675000-194677400	Weak transcription	Fetal Lung	lung
34	chr1:194675000-194678600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:194676200-194676400	Enhancers	Left Ventricle	heart

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