Variant report

Variant	nsv1029464
Chromosome Location	chr4:151817148-151868929
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:151845043..151847857-chr4:151848040..151850995,2	MCF-7	breast:
2	chr4:151853140..151855693-chr4:151862227..151864085,2	MCF-7	breast:
3	chr4:151845043..151847857-chr4:151848040..151850995,2	MCF-7	breast:
4	chr4:151856044..151857786-chr4:151866410..151868032,2	MCF-7	breast:
5	chr4:151807822..151810707-chr4:151824828..151826399,2	MCF-7	breast:
6	chr4:151826174..151828627-chr4:151829804..151831987,2	K562	blood:
7	chr4:151858185..151860880-chr4:151862516..151865242,2	K562	blood:
8	chr4:151836433..151838232-chr4:151938330..151941035,2	K562	blood:
9	chr4:151818098..151820751-chr4:151821020..151823300,2	K562	blood:
10	chr4:151832868..151835520-chr4:151835576..151838225,3	K562	blood:
11	chr4:151828959..151831432-chr4:151935818..151938193,2	MCF-7	breast:
12	chr4:151821560..151823424-chr4:151828141..151829682,2	K562	blood:
13	chr4:151832868..151835520-chr4:151835576..151838225,3	K562	blood:
14	chr4:151819110..151821335-chr4:151824155..151826742,2	K562	blood:
15	chr3:16323090..16324886-chr4:151818389..151821180,2	MCF-7	breast:
16	chr4:151840995..151842653-chr4:151848831..151850409,2	MCF-7	breast:
17	chr4:151858340..151860343-chr4:151871989..151873498,2	K562	blood:
18	chr4:151825420..151827674-chr4:151830487..151833140,2	K562	blood:
19	chr4:151853140..151855693-chr4:151862227..151864085,2	MCF-7	breast:
20	chr4:151856044..151857786-chr4:151866410..151868032,2	MCF-7	breast:
21	chr4:151865757..151867781-chr4:151869547..151872879,3	K562	blood:
22	chr4:151847139..151848765-chr4:152022456..152024763,2	K562	blood:
23	chr4:151834153..151836017-chr4:151935343..151937971,2	MCF-7	breast:
24	chr4:151818098..151820751-chr4:151821020..151823300,2	K562	blood:
25	chr4:151840792..151843741-chr4:151844272..151846980,2	MCF-7	breast:
26	chr4:151866579..151869157-chr4:152019961..152022233,2	K562	blood:
27	chr4:151840792..151843741-chr4:151844272..151846980,2	MCF-7	breast:
28	chr4:151855396..151857375-chr4:151872035..151874195,2	K562	blood:
29	chr4:151863391..151864945-chr4:151935370..151936984,2	K562	blood:
30	chr4:151863391..151865111-chr4:151934001..151936984,2	K562	blood:
31	chr4:151825420..151827674-chr4:151830487..151833140,2	K562	blood:
32	chr4:151858185..151860880-chr4:151862516..151865242,2	K562	blood:
33	chr4:151819110..151821335-chr4:151824155..151826742,2	K562	blood:
34	chr4:151821560..151823424-chr4:151828141..151829682,2	K562	blood:
35	chr4:151840995..151842653-chr4:151848831..151850409,2	MCF-7	breast:
36	chr4:151826174..151828627-chr4:151829804..151831987,2	K562	blood:
37	chr4:151826280..151827804-chr4:151935533..151937387,2	MCF-7	breast:
38	chr4:151834697..151836681-chr4:151935366..151937461,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198589	chromatin interactions
ENSG00000145425	chromatin interactions
ENSG00000201264	chromatin interactions

Extended variants
information (count: 1789 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1789 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568099530	chr4:151817328-151817329	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530647012	chr4:151817435-151817436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115139393	chr4:151817507-151817508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185860143	chr4:151817535-151817536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145198687	chr4:151817549-151817550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149148368	chr4:151817563-151817564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552948430	chr4:151817590-151817591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142710443	chr4:151817633-151817634	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367684412	chr4:151817636-151817637	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147369155	chr4:151817637-151817638	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555158697	chr4:151817640-151817641	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56116539	chr4:151817649-151817650	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537153228	chr4:151817654-151817655	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556995265	chr4:151817791-151817792	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576867726	chr4:151817837-151817838	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183129289	chr4:151817948-151817949	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11733609	chr4:151817955-151817956	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs139541045	chr4:151818082-151818083	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111586193	chr4:151818168-151818169	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372651009	chr4:151818169-151818170	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541725958	chr4:151818172-151818173	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113121328	chr4:151818211-151818212	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527665731	chr4:151818253-151818254	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545178535	chr4:151818266-151818267	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186310039	chr4:151818309-151818310	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530681596	chr4:151818456-151818457	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550733729	chr4:151818461-151818462	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564164376	chr4:151818529-151818530	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6827829	chr4:151818543-151818544	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145181113	chr4:151818595-151818596	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546603276	chr4:151818617-151818618	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546614224	chr4:151818635-151818636	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566308687	chr4:151818697-151818698	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190316107	chr4:151818729-151818730	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13128053	chr4:151818747-151818748	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183423594	chr4:151818752-151818753	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548553883	chr4:151818754-151818755	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150981719	chr4:151818779-151818780	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72719677	chr4:151818783-151818784	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191122816	chr4:151818819-151818820	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576907368	chr4:151818829-151818830	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376178820	chr4:151818844-151818845	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183349698	chr4:151818857-151818858	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186656691	chr4:151818880-151818881	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542115160	chr4:151818931-151818932	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199750191	chr4:151818932-151818933	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368474928	chr4:151818957-151818958	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375622126	chr4:151818961-151818962	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368167203	chr4:151818962-151818963	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371718439	chr4:151818964-151818965	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:869 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151750200-151824200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:151763800-151823800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:151773800-151824600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:151774000-151820200	Weak transcription	Adipose Nuclei	Adipose
5	chr4:151774000-151820400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr4:151774000-151838400	Weak transcription	HepG2	liver
7	chr4:151792800-151819800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:151793600-151824200	Weak transcription	Esophagus	oesophagus
9	chr4:151796000-151820200	Weak transcription	Ovary	ovary
10	chr4:151796000-151820400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:151796000-151845000	Weak transcription	Fetal Heart	heart
12	chr4:151796000-151846000	Weak transcription	Aorta	Aorta
13	chr4:151796000-151847200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:151796200-151826200	Weak transcription	Right Ventricle	heart
15	chr4:151796200-151849600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:151796200-151872000	Weak transcription	Psoas Muscle	Psoas
17	chr4:151796400-151820200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:151796400-151834400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:151796400-151855000	Weak transcription	Gastric	stomach
20	chr4:151796400-151886600	Weak transcription	Pancreas	Pancrea
21	chr4:151796600-151833400	Weak transcription	Left Ventricle	heart
22	chr4:151796800-151819800	Weak transcription	K562	blood
23	chr4:151796800-151823800	Weak transcription	Thymus	Thymus
24	chr4:151796800-151824200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:151796800-151851000	Weak transcription	Lung	lung
26	chr4:151798000-151822600	Weak transcription	Fetal Lung	lung
27	chr4:151799600-151839600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:151801200-151828200	Weak transcription	HSMM	muscle
29	chr4:151801600-151819800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:151801600-151823800	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:151801600-151824200	Weak transcription	Fetal Stomach	stomach
32	chr4:151801600-151826200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:151801600-151827800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:151801600-151832800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr4:151801800-151823400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr4:151802800-151818400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:151806600-151839800	Weak transcription	HSMMtube	muscle
38	chr4:151806800-151829400	Weak transcription	HMEC	breast
39	chr4:151806800-151830600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr4:151806800-151851600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:151806800-151860400	Weak transcription	Colon Smooth Muscle	Colon
42	chr4:151807000-151820000	Weak transcription	Hela-S3	cervix
43	chr4:151807000-151822000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr4:151807000-151822400	Weak transcription	Stomach Mucosa	stomach
45	chr4:151807000-151827800	Weak transcription	Brain Hippocampus Middle	brain
46	chr4:151807000-151831800	Weak transcription	Osteobl	bone
47	chr4:151807000-151834600	Weak transcription	NHEK	skin
48	chr4:151807200-151830800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr4:151807600-151819800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:151808000-151831200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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