Variant report

Variant	nsv590906
Chromosome Location	chr3:85539816-85626054
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:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:85353497..85354172-chr3:85624891..85625399,2	MCF-7	breast:
2	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
3	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
4	chr3:85409636..85410536-chr3:85624933..85625875,2	MCF-7	breast:
5	chr3:85512384..85516287-chr3:85548853..85551591,3	K562	blood:
6	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
7	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
8	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
9	chr22:22050906..22053807-chr3:85561046..85562647,2	K562	blood:
10	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
11	chr3:85512744..85515419-chr3:85552866..85554640,2	K562	blood:
12	chr3:85461933..85464830-chr3:85550203..85551783,2	K562	blood:
13	chr3:85554458..85559025-chr3:85559659..85564098,6	K562	blood:
14	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
15	chr3:85495270..85496821-chr3:85554377..85556655,2	K562	blood:
16	chr3:85503980..85505718-chr3:85553016..85554877,2	K562	blood:
17	chr3:85525792..85532904-chr3:85548163..85554926,11	K562	blood:
18	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
19	chr3:85503835..85505718-chr3:85553016..85554877,3	K562	blood:
20	chr3:85439579..85441215-chr3:85551442..85553756,2	K562	blood:
21	chr3:85513919..85516830-chr3:85552866..85555627,2	K562	blood:
22	chr3:85534090..85536047-chr3:85539153..85540993,2	K562	blood:
23	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:
24	chr3:84291765..84296920-chr3:85550637..85554814,6	K562	blood:
25	chr3:84994697..84996927-chr3:85551100..85552839,2	K562	blood:
26	chr3:85489023..85491028-chr3:85614972..85617090,2	K562	blood:
27	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
28	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
29	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:
30	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
31	chr3:85522328..85524379-chr3:85551882..85554402,2	K562	blood:
32	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
33	chr3:85509846..85512397-chr3:85550866..85553089,2	K562	blood:
34	chr3:85353629..85354290-chr3:85624959..85625479,2	K562	blood:
35	chr3:85353254..85353869-chr3:85625261..85626043,2	MCF-7	breast:
36	chr3:85551480..85554348-chr3:85623401..85624978,2	K562	blood:
37	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
38	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
39	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:
40	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
41	chr3:85486960..85489003-chr3:85551718..85553697,2	K562	blood:
42	chr3:85455981..85458898-chr3:85554544..85556051,2	K562	blood:
43	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
44	chr3:84287116..84289415-chr3:85550323..85553207,2	K562	blood:
45	chr3:85500332..85501905-chr3:85547491..85549616,2	K562	blood:
46	chr3:84609476..84611998-chr3:85551707..85553249,2	K562	blood:
47	chr3:85554458..85559025-chr3:85559659..85564098,6	K562	blood:
48	chr3:85551480..85554348-chr3:85623401..85624978,2	K562	blood:

No data

Extended variants
information (count: 2381 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2381 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532712764	chr3:85542601-85542602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186207462	chr3:85542612-85542613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560841820	chr3:85542623-85542624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9838344	chr3:85542632-85542633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201272705	chr3:85542678-85542679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80181349	chr3:85542738-85542739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532990411	chr3:85542747-85542748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386663086	chr3:85542756-85542757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78213864	chr3:85542758-85542759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533718088	chr3:85542834-85542835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533973555	chr3:85542873-85542874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150707778	chr3:85542958-85542959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552572358	chr3:85542965-85542966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75223596	chr3:85542973-85542974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544777128	chr3:85543078-85543079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556753786	chr3:85543102-85543103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139047024	chr3:85543118-85543119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542537676	chr3:85543206-85543207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190729219	chr3:85543207-85543208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182822474	chr3:85543258-85543259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531904817	chr3:85543333-85543334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567110872	chr3:85543362-85543363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149949356	chr3:85543379-85543380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551967843	chr3:85543388-85543389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532264538	chr3:85543397-85543398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551158447	chr3:85543422-85543423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548819828	chr3:85543441-85543442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112558951	chr3:85543460-85543461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530344645	chr3:85543498-85543499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548593663	chr3:85543503-85543504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534281407	chr3:85543524-85543525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567165790	chr3:85543525-85543526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186987635	chr3:85543562-85543563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552177978	chr3:85543603-85543604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570578266	chr3:85543620-85543621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34794995	chr3:85543640-85543641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139909980	chr3:85543666-85543667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143420901	chr3:85543683-85543684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575343228	chr3:85543687-85543688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536485641	chr3:85543701-85543702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146575563	chr3:85543747-85543748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573095513	chr3:85543752-85543753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11929182	chr3:85543762-85543763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs564887223	chr3:85543789-85543790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576946934	chr3:85543790-85543791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371220894	chr3:85543813-85543814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544300860	chr3:85543824-85543825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562645297	chr3:85543828-85543829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530196006	chr3:85543829-85543830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548769180	chr3:85543833-85543834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85542600-85542800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:85542800-85544400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:85544400-85544800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:85544400-85545600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:85544600-85545400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:85544800-85545000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:85545000-85569000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:85550400-85557200	Active TSS	K562	blood
9	chr3:85552800-85554800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr3:85553000-85554800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr3:85553000-85554800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr3:85553400-85554400	Active TSS	Pancreas	Pancrea
13	chr3:85553600-85554600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr3:85553800-85554600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:85557200-85558200	Flanking Active TSS	K562	blood
16	chr3:85558200-85566800	Weak transcription	K562	blood
17	chr3:85560400-85561000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:85561200-85561600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr3:85569000-85569200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:85570800-85571200	Active TSS	A549	lung
21	chr3:85574000-85574800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr3:85574000-85574800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr3:85574800-85575400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:85574800-85576000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:85575400-85575600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:85576200-85576400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr3:85583000-85585400	Enhancers	Fetal Brain Male	brain
28	chr3:85583800-85585200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:85584200-85584800	Enhancers	Brain Anterior Caudate	brain
30	chr3:85584400-85585000	Enhancers	Brain Cingulate Gyrus	brain
31	chr3:85584400-85585200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr3:85584400-85585400	Enhancers	Brain Substantia Nigra	brain
33	chr3:85584600-85585000	Enhancers	Adipose Nuclei	Adipose
34	chr3:85584600-85585200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:85584600-85585200	Enhancers	Brain Angular Gyrus	brain
36	chr3:85584600-85585200	Enhancers	Brain Hippocampus Middle	brain
37	chr3:85584600-85585200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr3:85584800-85585000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:85584800-85585000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:85584800-85585200	Enhancers	Brain Germinal Matrix	brain
41	chr3:85584800-85587400	Weak transcription	Brain Anterior Caudate	brain
42	chr3:85585000-85588000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:85585200-85587200	Weak transcription	Brain Angular Gyrus	brain
44	chr3:85585200-85587400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:85585200-85587600	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:85585400-85591000	Weak transcription	Brain Substantia Nigra	brain
47	chr3:85587200-85588000	Enhancers	Brain Angular Gyrus	brain
48	chr3:85587400-85587800	Enhancers	Brain Anterior Caudate	brain
49	chr3:85587400-85588000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:85587400-85588000	Enhancers	Psoas Muscle	Psoas

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