Variant report

Variant	nsv593622
Chromosome Location	chr4:7971872-7974747
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7941236..7944392-chr4:7970174..7972613,4	MCF-7	breast:
2	chr4:7938506..7945813-chr4:7968503..7977501,21	MCF-7	breast:
3	chr4:7940228..7942732-chr4:7972694..7975678,3	MCF-7	breast:
4	chr20:30192785..30193307-chr4:7971401..7972325,2	Hela-S3	cervix:
5	chr4:7968293..7969808-chr4:7972289..7974865,2	MCF-7	breast:
6	chr4:7972595..7975049-chr4:7979721..7982181,5	MCF-7	breast:
7	chr4:7974598..7977296-chr4:7995967..7999387,3	MCF-7	breast:
8	chr4:7973238..7976056-chr4:7980066..7981632,2	MCF-7	breast:
9	chr4:7972328..7974698-chr4:7988025..7989740,2	MCF-7	breast:
10	chr4:7966853..7969531-chr4:7971692..7973616,2	MCF-7	breast:
11	chr4:7965044..7967214-chr4:7970387..7972613,2	MCF-7	breast:
12	chr4:7943385..7945490-chr4:7973996..7976275,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228919	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000196526	chromatin interactions

Extended variants
information (count: 134 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79514341	chr4:7971917-7971918	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs138969797	chr4:7971925-7971926	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs375600428	chr4:7971926-7971927	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs534714621	chr4:7971927-7971928	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs552723343	chr4:7971939-7971940	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs574360745	chr4:7971954-7971955	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs535404775	chr4:7971962-7971963	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs557312422	chr4:7971966-7971967	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs575561008	chr4:7971969-7971970	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs546027763	chr4:7972035-7972036	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs141628535	chr4:7972053-7972054	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs527323610	chr4:7972059-7972060	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs368879670	chr4:7972076-7972077	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs573302683	chr4:7972080-7972081	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs540699334	chr4:7972111-7972112	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs191833163	chr4:7972134-7972135	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs529272012	chr4:7972173-7972174	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs544154262	chr4:7972192-7972193	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs562852300	chr4:7972222-7972223	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs533436970	chr4:7972228-7972229	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs184051380	chr4:7972236-7972237	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs567035676	chr4:7972249-7972250	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs145397150	chr4:7972250-7972251	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs57026950	chr4:7972262-7972263	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs116189687	chr4:7972265-7972266	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs61067460	chr4:7972275-7972276	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs137873077	chr4:7972279-7972280	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs189179541	chr4:7972327-7972328	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569212454	chr4:7972334-7972335	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs115796867	chr4:7972338-7972339	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs1320066	chr4:7972369-7972370	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs192122860	chr4:7972372-7972373	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs565414759	chr4:7972410-7972411	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs141609717	chr4:7972411-7972412	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs577126085	chr4:7972432-7972433	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs541363521	chr4:7972439-7972440	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs62290614	chr4:7972452-7972453	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555835368	chr4:7972557-7972558	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs150515003	chr4:7972568-7972569	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs544239639	chr4:7972574-7972575	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs568322573	chr4:7972598-7972599	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs533475836	chr4:7972600-7972601	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs377638043	chr4:7972613-7972614	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs139595871	chr4:7972614-7972615	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs73798054	chr4:7972617-7972618	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs527905906	chr4:7972629-7972630	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs76656260	chr4:7972630-7972631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs116824788	chr4:7972631-7972632	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs185876223	chr4:7972632-7972633	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs563410885	chr4:7972646-7972647	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	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
Breast cancer	22522925	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7963400-7975400	Weak transcription	Aorta	Aorta
2	chr4:7967000-7987600	Weak transcription	Psoas Muscle	Psoas
3	chr4:7968200-7972000	Enhancers	Fetal Intestine Large	intestine
4	chr4:7968600-7972000	Enhancers	Spleen	Spleen
5	chr4:7969000-7972000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:7969000-7975600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
7	chr4:7969200-7972000	Enhancers	Stomach Mucosa	stomach
8	chr4:7969200-7972400	Enhancers	Colon Smooth Muscle	Colon
9	chr4:7969200-7973400	Enhancers	Right Ventricle	heart
10	chr4:7969200-7974400	Enhancers	Fetal Muscle Leg	muscle
11	chr4:7969200-7975600	Enhancers	Fetal Thymus	thymus
12	chr4:7969200-7975800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:7969400-7972000	Enhancers	Placenta	Placenta
14	chr4:7969400-7972000	Enhancers	Fetal Stomach	stomach
15	chr4:7969400-7972400	Enhancers	Fetal Muscle Trunk	muscle
16	chr4:7969400-7972400	Enhancers	NHDF-Ad	bronchial
17	chr4:7969400-7972600	Enhancers	Left Ventricle	heart
18	chr4:7969400-7972800	Enhancers	Right Atrium	heart
19	chr4:7969400-7973200	Enhancers	NHLF	lung
20	chr4:7969400-7974800	Enhancers	Lung	lung
21	chr4:7969400-7975800	Enhancers	Stomach Smooth Muscle	stomach
22	chr4:7969400-7976000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:7969600-7972000	Enhancers	Duodenum Mucosa	Duodenum
24	chr4:7969600-7975800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr4:7969800-7972000	Enhancers	Fetal Intestine Small	intestine
26	chr4:7969800-7972400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr4:7969800-7973600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:7970000-7972400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:7970400-7973000	Enhancers	Adipose Nuclei	Adipose
30	chr4:7970400-7973200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:7970400-7980200	Weak transcription	HSMM	muscle
32	chr4:7970800-7972000	Enhancers	Small Intestine	intestine
33	chr4:7970800-7975800	Enhancers	NH-A	brain
34	chr4:7971000-7972000	Enhancers	NHEK	skin
35	chr4:7971000-7972200	Enhancers	Fetal Brain Female	brain
36	chr4:7971000-7972600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr4:7971000-7972600	Enhancers	Ovary	ovary
38	chr4:7971000-7972800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:7971000-7973000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:7971000-7973000	Enhancers	Fetal Lung	lung
41	chr4:7971000-7973200	Enhancers	Brain Cingulate Gyrus	brain
42	chr4:7971000-7973400	Enhancers	Fetal Brain Male	brain
43	chr4:7971000-7973400	Enhancers	Fetal Heart	heart
44	chr4:7971000-7974600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:7971000-7976000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr4:7971000-7976000	Enhancers	HMEC	breast
47	chr4:7971200-7972000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr4:7971200-7972200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr4:7971200-7972400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:7971200-7972400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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