Variant report

Variant	nsv4269
Chromosome Location	chr4:21761429-21806056
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:17)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:21513432..21514751-chr4:21767040..21768803,10	MCF-7	breast:
2	chr4:21513547..21514492-chr4:21769669..21770605,6	MCF-7	breast:
3	chr4:21765094..21766763-chr4:21768387..21770633,2	K562	blood:
4	chr4:21791076..21791579-chr4:22691911..22692590,2	K562	blood:
5	chr4:21793571..21796261-chr4:21796696..21799237,2	MCF-7	breast:
6	chr4:21769756..21770575-chr4:22358426..22359045,2	MCF-7	breast:
7	chr4:21783831..21784384-chr5:62448794..62449526,2	MCF-7	breast:
8	chr4:21790635..21791482-chr4:22083518..22084264,2	MCF-7	breast:
9	chr4:21513582..21515656-chr4:21764630..21766290,2	MCF-7	breast:
10	chr4:21508722..21509309-chr4:21767490..21768052,2	MCF-7	breast:
11	chr4:21755284..21757367-chr4:21761747..21763856,2	K562	blood:
12	chr4:21765094..21766763-chr4:21768387..21770633,2	K562	blood:
13	chr4:21791838..21792739-chr4:22130763..22131377,2	MCF-7	breast:
14	chr4:21513660..21514733-chr4:21769803..21771071,4	MCF-7	breast:
15	chr4:21793571..21796261-chr4:21796696..21799237,2	MCF-7	breast:
16	chr4:21790330..21793132-chr4:22390550..22391689,10	MCF-7	breast:
17	chr4:21790239..21792742-chr4:22389960..22391772,13	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR125-4	chr4:21764544-21764655	NONHSAT095743
2	lnc-GPR125-4	chr4:21805320-21805365	NONHSAT095742
3	lnc-GPR125-4	chr4:21764544-21764652	NONHSAT095742

No data

Extended variants
information (count: 1628 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1628 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74457873	chr4:21761434-21761435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181838182	chr4:21761435-21761436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554382085	chr4:21761536-21761537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369768457	chr4:21761538-21761539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368902338	chr4:21761617-21761618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368076180	chr4:21761623-21761624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528073040	chr4:21761729-21761730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185269333	chr4:21761739-21761740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17498679	chr4:21761746-21761747	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs10007774	chr4:21761761-21761762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113792330	chr4:21761854-21761855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190311097	chr4:21761856-21761857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181994428	chr4:21761909-21761910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545640793	chr4:21761959-21761960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10007968	chr4:21761961-21761962	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs137893875	chr4:21761992-21761993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577920790	chr4:21762033-21762034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186275997	chr4:21762053-21762054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs33915414	chr4:21762064-21762065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376749972	chr4:21762067-21762068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371353198	chr4:21762069-21762070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149468829	chr4:21762152-21762153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17498715	chr4:21762186-21762187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528857321	chr4:21762197-21762198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9784415	chr4:21762219-21762220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532016490	chr4:21762226-21762227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112895054	chr4:21762259-21762260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35864174	chr4:21762274-21762275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550601303	chr4:21762329-21762330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368320036	chr4:21762375-21762376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373752285	chr4:21762403-21762404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112964747	chr4:21762414-21762415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376284873	chr4:21762430-21762431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562442895	chr4:21762460-21762461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36059997	chr4:21762483-21762484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189562778	chr4:21762511-21762512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142117109	chr4:21762529-21762530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566349558	chr4:21762533-21762534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535080854	chr4:21762560-21762561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553199568	chr4:21762561-21762562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571569714	chr4:21762573-21762574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371966407	chr4:21762580-21762581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557430658	chr4:21762627-21762628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143951251	chr4:21762657-21762658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1349383	chr4:21762664-21762665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs371002894	chr4:21762723-21762724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572377054	chr4:21762750-21762751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555167314	chr4:21762825-21762826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185461345	chr4:21762842-21762843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540277353	chr4:21762859-21762860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	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
Oral squamous cell carcinoma	17134496	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21752200-21764600	Weak transcription	HMEC	breast
2	chr4:21755400-21764000	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:21761400-21762000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:21762000-21765800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:21764000-21766000	Enhancers	Colon Smooth Muscle	Colon
6	chr4:21764200-21766400	Enhancers	Fetal Heart	heart
7	chr4:21764600-21765000	Enhancers	HMEC	breast
8	chr4:21764600-21765200	Enhancers	Fetal Brain Female	brain
9	chr4:21764600-21765600	Enhancers	Rectal Smooth Muscle	rectum
10	chr4:21765000-21765800	Weak transcription	HMEC	breast
11	chr4:21765600-21766000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:21765600-21766000	Enhancers	Fetal Brain Male	brain
13	chr4:21765800-21766000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:21765800-21766000	Enhancers	Fetal Lung	lung
15	chr4:21765800-21766400	Enhancers	HMEC	breast
16	chr4:21766000-21766200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:21766000-21771000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:21766200-21766600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:21766400-21767600	Weak transcription	Fetal Heart	heart
20	chr4:21766400-21770000	Weak transcription	HMEC	breast
21	chr4:21766600-21780200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:21767000-21767200	Enhancers	Fetal Brain Male	brain
23	chr4:21767600-21767800	Enhancers	Fetal Heart	heart
24	chr4:21767600-21768800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:21767600-21768800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:21767800-21768000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:21767800-21768000	Enhancers	NHEK	skin
28	chr4:21767800-21768800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:21767800-21768800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:21767800-21769000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr4:21767800-21769000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:21768000-21768400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr4:21768000-21770000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:21768400-21768600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:21768600-21769000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr4:21768800-21769000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:21768800-21769200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:21768800-21769200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:21768800-21769800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:21769000-21769800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr4:21769200-21770200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:21769400-21780400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:21770000-21770200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:21770000-21770200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr4:21770000-21770200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:21770000-21770200	Enhancers	Adipose Nuclei	Adipose
47	chr4:21770000-21770200	Enhancers	Liver	Liver
48	chr4:21770000-21770200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr4:21770000-21770200	Flanking Active TSS	HUVEC	blood vessel
50	chr4:21770000-21770400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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