Variant report

Variant	nsv10459
Chromosome Location	chr4:15721343-15724582
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15669572..15671315-chr4:15723195..15724968,2	MCF-7	breast:
2	chr4:15681673..15684489-chr4:15721477..15723433,2	MCF-7	breast:
3	chr4:15656249..15658518-chr4:15717903..15721715,3	K562	blood:
4	chr4:15708496..15710656-chr4:15720445..15723792,3	K562	blood:

Variant related genes	Relation type
ENSG00000109743	chromatin interactions
ENSG00000237765	chromatin interactions
ENSG00000118564	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77149654	chr4:15721390-15721391	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs187207808	chr4:15721454-15721455	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538635041	chr4:15721469-15721470	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs558543885	chr4:15721475-15721476	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs35492224	chr4:15721483-15721484	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs572082334	chr4:15721499-15721500	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs541299805	chr4:15721510-15721511	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs147151619	chr4:15721590-15721591	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs28532698	chr4:15721619-15721620	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576456270	chr4:15721636-15721637	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs543284408	chr4:15721653-15721654	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs558119038	chr4:15721666-15721667	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs7675221	chr4:15721684-15721685	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs562987614	chr4:15721685-15721686	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs373786990	chr4:15721732-15721733	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs7699180	chr4:15721800-15721801	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564894541	chr4:15721939-15721940	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs527693271	chr4:15721942-15721943	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs548049402	chr4:15721975-15721976	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs561460248	chr4:15721984-15721985	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs191244369	chr4:15722065-15722066	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs559154157	chr4:15722066-15722067	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs550155150	chr4:15722069-15722070	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs570270103	chr4:15722097-15722098	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs538699769	chr4:15722132-15722133	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs202032837	chr4:15722138-15722139	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs575238008	chr4:15722223-15722224	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs548695040	chr4:15722357-15722358	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs182532993	chr4:15722381-15722382	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs565653023	chr4:15722388-15722389	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs188003464	chr4:15722400-15722401	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs370591735	chr4:15722433-15722434	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs79925994	chr4:15722444-15722445	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs574681713	chr4:15722445-15722446	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs567204661	chr4:15722507-15722508	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs375729721	chr4:15722547-15722548	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs10001565	chr4:15722573-15722574	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs556831208	chr4:15722574-15722575	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs576636365	chr4:15722598-15722599	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs140189943	chr4:15722615-15722616	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs565059179	chr4:15722625-15722626	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs372671608	chr4:15722673-15722674	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs561601720	chr4:15722685-15722686	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs572094047	chr4:15722716-15722717	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs377518037	chr4:15722728-15722729	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs193057476	chr4:15722780-15722781	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs78288014	chr4:15722789-15722790	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs530283278	chr4:15722811-15722812	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs76213304	chr4:15722825-15722826	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs562358788	chr4:15722832-15722833	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Breast cancer	21509527	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15697600-15723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:15705000-15735200	Weak transcription	Lung	lung
3	chr4:15705200-15731000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:15705400-15727400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:15706000-15727800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:15707400-15742800	Weak transcription	Primary B cells from cord blood	blood
7	chr4:15708800-15739400	Weak transcription	Ovary	ovary
8	chr4:15709400-15731800	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:15710000-15723600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:15715800-15721600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:15716200-15723400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:15716400-15723000	Weak transcription	A549	lung
13	chr4:15716600-15725200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:15716800-15727600	Weak transcription	Brain Anterior Caudate	brain
15	chr4:15717600-15721600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:15718200-15725000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:15718200-15725600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr4:15718600-15722200	Weak transcription	Placenta	Placenta
19	chr4:15719200-15724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:15719400-15723000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
21	chr4:15719400-15735800	Weak transcription	NHDF-Ad	bronchial
22	chr4:15719600-15723000	Genic enhancers	Primary monocytes fromperipheralblood	blood
23	chr4:15719600-15724200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:15719600-15724600	Weak transcription	Hela-S3	cervix
25	chr4:15719600-15725200	Weak transcription	Left Ventricle	heart
26	chr4:15719800-15721600	Enhancers	Colon Smooth Muscle	Colon
27	chr4:15719800-15723600	Weak transcription	Osteobl	bone
28	chr4:15719800-15725400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:15719800-15726400	Weak transcription	Fetal Lung	lung
30	chr4:15719800-15736600	Weak transcription	Spleen	Spleen
31	chr4:15720000-15725400	Weak transcription	NHLF	lung
32	chr4:15720000-15725600	Weak transcription	NH-A	brain
33	chr4:15720200-15721400	Enhancers	Liver	Liver
34	chr4:15720200-15727400	Strong transcription	Fetal Intestine Large	intestine
35	chr4:15720400-15722000	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr4:15720400-15725400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:15720600-15721400	Flanking Active TSS	HepG2	liver
38	chr4:15720600-15721600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:15720600-15729000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr4:15720800-15724600	Strong transcription	Fetal Intestine Small	intestine
41	chr4:15720800-15727200	Weak transcription	Colonic Mucosa	Colon
42	chr4:15721000-15723600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:15721000-15724000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:15721000-15724600	Weak transcription	Adipose Nuclei	Adipose
45	chr4:15721000-15726400	Weak transcription	Fetal Stomach	stomach
46	chr4:15721000-15726400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:15721000-15727000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr4:15721000-15728800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:15721000-15729600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:15721200-15721400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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