Variant report

Variant	nsv1011820
Chromosome Location	chr4:48170669-48186729
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:48164755..48167571-chr4:48169298..48171997,3	MCF-7	breast:
2	chr4:48168015..48170294-chr4:48173927..48176191,2	K562	blood:
3	chr4:48171039..48173617-chr4:48175205..48177661,3	MCF-7	breast:
4	chr4:48174022..48176386-chr4:48181420..48183923,2	K562	blood:
5	chr4:48182506..48184913-chr4:48185487..48187835,2	K562	blood:
6	chr4:48171039..48173617-chr4:48175205..48177661,3	MCF-7	breast:
7	chr4:48177121..48180289-chr4:48181668..48184747,3	MCF-7	breast:
8	chr4:48175263..48177129-chr4:48197621..48199593,2	K562	blood:
9	chr4:48184426..48187348-chr4:48194025..48197135,3	K562	blood:
10	chr4:48177121..48180289-chr4:48181668..48184747,3	MCF-7	breast:
11	chr4:48169322..48172122-chr4:48178324..48180864,2	K562	blood:
12	chr4:48173393..48175271-chr4:48298166..48300256,2	K562	blood:
13	chr4:48173412..48176298-chr4:48428298..48430775,2	K562	blood:
14	chr4:48169322..48172122-chr4:48178324..48180864,2	K562	blood:
15	chr4:48175041..48176757-chr4:48255815..48257585,2	K562	blood:
16	chr4:48182506..48184913-chr4:48185487..48187835,2	K562	blood:
17	chr4:48174022..48176386-chr4:48181420..48183923,2	K562	blood:
18	chr4:48175434..48177430-chr4:48270272..48272228,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135605	chromatin interactions

Extended variants
information (count: 627 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:627 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2243840	chr4:48170669-48170670	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528062182	chr4:48170692-48170693	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568361778	chr4:48170717-48170718	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35276567	chr4:48170787-48170788	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546218704	chr4:48170789-48170790	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571008477	chr4:48170794-48170795	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532276496	chr4:48170844-48170845	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550414596	chr4:48170866-48170867	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570188842	chr4:48170940-48170941	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537260402	chr4:48170941-48170942	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556077665	chr4:48170950-48170951	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567985819	chr4:48170964-48170965	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75564152	chr4:48171008-48171009	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112811069	chr4:48171022-48171023	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190910364	chr4:48171026-48171027	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577966957	chr4:48171039-48171040	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs58695925	chr4:48171051-48171052	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3792620	chr4:48171116-48171117	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575362812	chr4:48171177-48171178	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386674299	chr4:48171206-48171207	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs185133511	chr4:48171212-48171213	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs560828985	chr4:48171257-48171258	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs201636521	chr4:48171275-48171276	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs528416602	chr4:48171288-48171289	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs539835578	chr4:48171310-48171311	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs372425129	chr4:48171335-48171336	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76243113	chr4:48171355-48171356	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs547712523	chr4:48171395-48171396	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs564501609	chr4:48171515-48171516	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs372890289	chr4:48171546-48171547	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs189889414	chr4:48171550-48171551	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs554937719	chr4:48171642-48171643	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs3792619	chr4:48171682-48171683	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs568891980	chr4:48171691-48171692	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs10805164	chr4:48171712-48171713	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs549643785	chr4:48171713-48171714	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs143925549	chr4:48171733-48171734	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs535294832	chr4:48171736-48171737	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs553705161	chr4:48171772-48171773	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs571588329	chr4:48171791-48171792	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs147259752	chr4:48171813-48171814	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs138727434	chr4:48171826-48171827	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs575678070	chr4:48171834-48171835	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs542412085	chr4:48171861-48171862	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs554384546	chr4:48171917-48171918	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs10805165	chr4:48171931-48171932	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540093003	chr4:48171978-48171979	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs149361086	chr4:48172040-48172041	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576741917	chr4:48172042-48172043	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543889162	chr4:48172044-48172045	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	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
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48157800-48175400	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:48157800-48181000	Weak transcription	Pancreas	Pancrea
3	chr4:48158400-48170800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:48158400-48171400	Weak transcription	Fetal Lung	lung
5	chr4:48158400-48171400	Weak transcription	Left Ventricle	heart
6	chr4:48158400-48171400	Weak transcription	Psoas Muscle	Psoas
7	chr4:48158400-48172200	Weak transcription	Colonic Mucosa	Colon
8	chr4:48158400-48172200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:48158400-48175000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:48158400-48175600	Weak transcription	Adipose Nuclei	Adipose
11	chr4:48158400-48180600	Weak transcription	Spleen	Spleen
12	chr4:48158400-48181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
14	chr4:48158600-48179200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:48158600-48179400	Weak transcription	Fetal Intestine Small	intestine
16	chr4:48158800-48171000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:48158800-48174600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:48158800-48175600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:48158800-48180200	Weak transcription	Fetal Thymus	thymus
20	chr4:48159400-48177200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:48160400-48174400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:48164200-48171200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr4:48164800-48174400	Weak transcription	HSMM	muscle
24	chr4:48164800-48174600	Weak transcription	HSMMtube	muscle
25	chr4:48164800-48175200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:48165000-48171400	Weak transcription	Fetal Heart	heart
27	chr4:48165000-48175000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:48166200-48170800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:48166400-48172400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr4:48166400-48172600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:48166400-48179600	Weak transcription	Thymus	Thymus
32	chr4:48167000-48175400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:48167200-48175400	Weak transcription	Placenta	Placenta
34	chr4:48167600-48172600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr4:48167800-48172200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:48168800-48172800	Strong transcription	Primary B cells from cord blood	blood
37	chr4:48169000-48180600	Weak transcription	Esophagus	oesophagus
38	chr4:48169000-48190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:48169400-48171400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr4:48169800-48172000	ZNF genes & repeats	GM12878-XiMat	blood
41	chr4:48169800-48173400	Weak transcription	Fetal Intestine Large	intestine
42	chr4:48170000-48170800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:48170000-48175200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr4:48170600-48171600	Enhancers	K562	blood
45	chr4:48170600-48174400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr4:48170600-48176800	Weak transcription	Liver	Liver
47	chr4:48170600-48181200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:48170800-48171200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:48170800-48171200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:48171000-48171800	Enhancers	Pancreatic Islets	Pancreatic Islet

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