Variant report

Variant	nsv593645
Chromosome Location	chr4:8694389-8729471
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8709792..8713378-chr4:8726638..8730577,3	K562	blood:
2	chr4:8701567..8704524-chr4:8729204..8732158,2	K562	blood:
3	chr4:8707817..8709520-chr4:8713049..8714741,2	MCF-7	breast:
4	chr4:8682718..8684639-chr4:8704262..8707197,2	MCF-7	breast:
5	chr4:8707817..8709520-chr4:8713049..8714741,2	MCF-7	breast:
6	chr4:8727792..8729635-chr4:8777761..8780174,2	MCF-7	breast:
7	chr4:8709795..8712592-chr4:8714328..8716618,2	MCF-7	breast:
8	chr4:8722609..8725304-chr4:8746886..8749545,2	MCF-7	breast:
9	chr4:8693492..8696360-chr4:8722183..8724152,2	MCF-7	breast:
10	chr4:8715458..8718338-chr4:8719661..8722261,4	MCF-7	breast:
11	chr4:8728690..8730772-chr4:10106539..10108201,2	K562	blood:
12	chr4:8701567..8704524-chr4:8729204..8732158,2	K562	blood:
13	chr4:8715458..8718338-chr4:8719661..8722261,4	MCF-7	breast:
14	chr4:8723681..8726595-chr4:8727045..8729022,2	MCF-7	breast:
15	chr4:8709792..8713378-chr4:8726638..8730577,3	K562	blood:
16	chr4:8693492..8696360-chr4:8722183..8724152,2	MCF-7	breast:
17	chr4:8709795..8712592-chr4:8714328..8716618,2	MCF-7	breast:
18	chr4:8720313..8722738-chr4:8763583..8766332,2	MCF-7	breast:
19	chr4:8723681..8726595-chr4:8727045..8729022,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000071127	chromatin interactions
ENSG00000250915	chromatin interactions

Extended variants
information (count: 1801 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1801 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6817108	chr4:8694389-8694390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144733367	chr4:8694410-8694411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571990508	chr4:8694441-8694442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542540835	chr4:8694489-8694490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113845652	chr4:8694490-8694491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4446294	chr4:8694507-8694508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189790248	chr4:8694510-8694511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75369197	chr4:8694581-8694582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564834087	chr4:8694592-8694593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377353454	chr4:8694612-8694613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11722287	chr4:8694613-8694614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs35774768	chr4:8694620-8694621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565714226	chr4:8694667-8694668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183107268	chr4:8694674-8694675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544722086	chr4:8694698-8694699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548923281	chr4:8694757-8694758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570199374	chr4:8694764-8694765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537249771	chr4:8694793-8694794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559150937	chr4:8694797-8694798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577253902	chr4:8694798-8694799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562725939	chr4:8694859-8694860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186184582	chr4:8694860-8694861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574514992	chr4:8694872-8694873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192045861	chr4:8694909-8694910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577792835	chr4:8694910-8694911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533407782	chr4:8694978-8694979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183638090	chr4:8694992-8694993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188420050	chr4:8695017-8695018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111931068	chr4:8695024-8695025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192826571	chr4:8695027-8695028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543251473	chr4:8695037-8695038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551657675	chr4:8695086-8695087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560367851	chr4:8695097-8695098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565127843	chr4:8695099-8695100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145474162	chr4:8695107-8695108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182762233	chr4:8695108-8695109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35488619	chr4:8695119-8695120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186661176	chr4:8695183-8695184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374369611	chr4:8695184-8695185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191365266	chr4:8695191-8695192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529732487	chr4:8695199-8695200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548862321	chr4:8695200-8695201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9884180	chr4:8695211-8695212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs537786759	chr4:8695238-8695239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552476443	chr4:8695252-8695253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4235279	chr4:8695299-8695300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534765241	chr4:8695316-8695317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9884183	chr4:8695317-8695318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568071540	chr4:8695324-8695325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151046473	chr4:8695350-8695351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8692600-8696000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:8696000-8697000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:8696800-8697000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:8697000-8700000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:8699600-8701600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:8699800-8700000	ZNF genes & repeats	Spleen	Spleen
7	chr4:8700000-8700600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:8700200-8701200	Weak transcription	Spleen	Spleen
9	chr4:8700600-8701600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:8701200-8701400	Enhancers	Spleen	Spleen
11	chr4:8701200-8701800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr4:8701600-8701800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:8701600-8701800	Enhancers	Pancreas	Pancrea
14	chr4:8701600-8702400	Enhancers	Brain Germinal Matrix	brain
15	chr4:8701600-8702600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr4:8701600-8703400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:8701800-8702200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:8702000-8702600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
19	chr4:8702000-8702800	Bivalent Enhancer	Fetal Stomach	stomach
20	chr4:8702000-8703000	Bivalent Enhancer	Fetal Lung	lung
21	chr4:8702200-8702600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:8702200-8702600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:8702200-8703600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:8702400-8702600	Bivalent Enhancer	Adipose Nuclei	Adipose
25	chr4:8702400-8702600	Bivalent Enhancer	Fetal Brain Male	brain
26	chr4:8702400-8702600	Enhancers	Pancreas	Pancrea
27	chr4:8702400-8702800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
28	chr4:8702400-8702800	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr4:8702600-8702800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:8702600-8702800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:8702600-8702800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:8702600-8703000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
33	chr4:8702800-8703000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
34	chr4:8703400-8704000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:8703600-8704000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:8703800-8704200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:8704000-8705800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:8704000-8706600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:8704200-8706000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:8705000-8705200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:8705600-8707000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:8705800-8706000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:8706000-8707000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:8706000-8707200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:8706000-8708600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:8706400-8706800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
47	chr4:8706600-8708600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:8706800-8708200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr4:8706800-8708400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:8707000-8707200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

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