Variant report

Variant	nsv1001124
Chromosome Location	chr3:85167047-85309046
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:85209393..85211289-chr3:85214657..85216931,2	K562	blood:
2	chr3:85277464..85279349-chr3:85282954..85285645,2	MCF-7	breast:
3	chr14:33567272..33568194-chr3:85240415..85241255,2	MCF-7	breast:
4	chr3:85243785..85244488-chr6:122933006..122933585,2	MCF-7	breast:
5	chr3:85209393..85211289-chr3:85214657..85216931,2	K562	blood:
6	chr3:85277464..85279349-chr3:85282954..85285645,2	MCF-7	breast:
7	chr2:75010074..75010799-chr3:85210133..85210807,2	MCF-7	breast:
8	chr17:56707416..56709502-chr3:85166850..85168946,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 3880 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3880 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111945056	chr3:85167048-85167049	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540287546	chr3:85167049-85167050	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs370920986	chr3:85167067-85167068	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112078952	chr3:85167072-85167073	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548985650	chr3:85167109-85167110	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551296176	chr3:85167126-85167127	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560110447	chr3:85167152-85167153	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567178792	chr3:85167158-85167159	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571439236	chr3:85167233-85167234	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200828494	chr3:85167260-85167261	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528062466	chr3:85167303-85167304	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546531403	chr3:85167325-85167326	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571204378	chr3:85167341-85167342	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142571413	chr3:85167428-85167429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs67813378	chr3:85167430-85167431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs75335006	chr3:85167482-85167483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189788109	chr3:85167504-85167505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs60399717	chr3:85167520-85167521	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs578140844	chr3:85167521-85167522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141300513	chr3:85167533-85167534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112247217	chr3:85167564-85167565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs144958297	chr3:85167597-85167598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs116114305	chr3:85167619-85167620	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs559298189	chr3:85167623-85167624	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs6775282	chr3:85167660-85167661	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544838317	chr3:85167730-85167731	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs6775464	chr3:85167764-85167765	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs530294118	chr3:85167802-85167803	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542392648	chr3:85167834-85167835	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs79422685	chr3:85167859-85167860	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528122730	chr3:85167899-85167900	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546140090	chr3:85167933-85167934	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564843560	chr3:85167957-85167958	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376924843	chr3:85167960-85167961	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532239233	chr3:85167962-85167963	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529050102	chr3:85167973-85167974	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140709809	chr3:85167977-85167978	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568983001	chr3:85168002-85168003	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545056602	chr3:85168003-85168004	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536429441	chr3:85168033-85168034	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs180725243	chr3:85168045-85168046	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566926063	chr3:85168061-85168062	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200443935	chr3:85168064-85168065	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs71108207	chr3:85168078-85168079	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs185904792	chr3:85168115-85168116	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375036933	chr3:85168121-85168122	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs6788656	chr3:85168143-85168144	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs148139807	chr3:85168164-85168165	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs116325787	chr3:85168194-85168195	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542406587	chr3:85168224-85168225	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85153000-85168200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:85167000-85167400	Active TSS	Primary hematopoietic stem cells	blood
3	chr3:85167000-85170400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:85167600-85168400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:85168400-85177600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:85169200-85198600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:85170000-85170400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:85170200-85170600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:85170200-85170600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:85170400-85170800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:85170400-85171200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:85170600-85170800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:85170800-85171800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:85170800-85173000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:85171200-85171600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:85171600-85171800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:85171800-85172200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:85171800-85172200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr3:85172200-85173000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:85173000-85173400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:85173200-85173400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:85189600-85190000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:85189800-85190600	Enhancers	Fetal Lung	lung
24	chr3:85191200-85191400	Enhancers	Brain Anterior Caudate	brain
25	chr3:85191400-85197200	Weak transcription	Brain Anterior Caudate	brain
26	chr3:85193000-85193400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr3:85193200-85193400	Enhancers	Brain Substantia Nigra	brain
28	chr3:85193400-85197200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:85193400-85197200	Weak transcription	Brain Substantia Nigra	brain
30	chr3:85195800-85196000	Enhancers	Brain Hippocampus Middle	brain
31	chr3:85196000-85197200	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:85197200-85197400	Enhancers	Brain Cingulate Gyrus	brain
33	chr3:85197200-85197400	Enhancers	Stomach Mucosa	stomach
34	chr3:85197200-85197600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:85197200-85197600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr3:85197200-85197600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:85197200-85197800	Enhancers	Brain Angular Gyrus	brain
38	chr3:85197200-85198200	Enhancers	Brain Anterior Caudate	brain
39	chr3:85197200-85198200	Enhancers	Brain Hippocampus Middle	brain
40	chr3:85197200-85198200	Enhancers	Brain Substantia Nigra	brain
41	chr3:85197400-85197600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:85197400-85209600	Weak transcription	Stomach Mucosa	stomach
43	chr3:85197800-85199000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:85198200-85200200	Weak transcription	Brain Substantia Nigra	brain
45	chr3:85198600-85198800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr3:85198800-85199200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:85199000-85199400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:85199200-85199400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr3:85199400-85201400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr3:85199400-85201400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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