Variant report

Variant	nsv829691
Chromosome Location	chr3:118393966-118560755
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:118459741..118461919-chr3:118488744..118490302,2	K562	blood:
2	chr3:118448510..118451112-chr3:118452553..118454818,2	K562	blood:
3	chr3:117697145..117699855-chr3:118546098..118547844,2	K562	blood:
4	chr3:118518930..118520759-chr3:118523374..118525121,2	K562	blood:
5	chr3:118506277..118510271-chr3:118512707..118515186,3	K562	blood:
6	chr3:118511842..118514784-chr3:118518063..118520324,2	K562	blood:
7	chr3:118506277..118509266-chr3:118512707..118515364,3	K562	blood:
8	chr3:118347698..118348225-chr3:118536287..118537041,3	MCF-7	breast:
9	chr3:118448510..118451112-chr3:118452553..118454818,2	K562	blood:
10	chr3:118506277..118509266-chr3:118512707..118515364,3	K562	blood:
11	chr3:118355470..118356286-chr3:118536397..118537076,2	MCF-7	breast:
12	chr3:118511842..118514784-chr3:118518063..118520324,2	K562	blood:
13	chr3:118518930..118520759-chr3:118523374..118525121,2	K562	blood:
14	chr3:118485268..118487825-chr3:118490274..118493253,2	MCF-7	breast:
15	chr3:118459741..118461919-chr3:118488744..118490302,2	K562	blood:
16	chr3:118485268..118487825-chr3:118490274..118493253,2	MCF-7	breast:
17	chr3:117437844..117438816-chr3:118536682..118537664,2	MCF-7	breast:
18	chr3:118453662..118455931-chrX:17428272..17430528,2	MCF-7	breast:
19	chr3:118390329..118393127-chr3:118395647..118397286,2	K562	blood:
20	chr3:118506277..118510271-chr3:118512707..118515186,3	K562	blood:
21	chr3:118347309..118348273-chr3:118536255..118536838,3	K562	blood:

No data

Extended variants
information (count: 5500 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:5500 , 50 per page) page: 1 2 3 4 5 6 7 ... 110

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371876417	chr3:118394000-118394001	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533233598	chr3:118394009-118394010	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371975722	chr3:118394017-118394018	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146988932	chr3:118394034-118394035	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192132063	chr3:118394175-118394176	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546461892	chr3:118394284-118394285	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9289113	chr3:118394286-118394287	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs528644728	chr3:118394302-118394303	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546915210	chr3:118394333-118394334	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369117649	chr3:118394354-118394355	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571822165	chr3:118394396-118394397	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184025203	chr3:118394427-118394428	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550661961	chr3:118394432-118394433	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114414621	chr3:118394452-118394453	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536790972	chr3:118394480-118394481	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186090123	chr3:118394483-118394484	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs137974841	chr3:118394491-118394492	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556257115	chr3:118394497-118394498	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190952215	chr3:118394524-118394525	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529203709	chr3:118394586-118394587	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558828132	chr3:118394589-118394590	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577022319	chr3:118394593-118394594	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576077946	chr3:118394695-118394696	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544197717	chr3:118394712-118394713	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555933085	chr3:118394766-118394767	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574081981	chr3:118394768-118394769	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549111753	chr3:118394804-118394805	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201316501	chr3:118394814-118394815	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541556328	chr3:118394816-118394817	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559792675	chr3:118394822-118394823	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528680624	chr3:118394863-118394864	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540439294	chr3:118394880-118394881	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543275281	chr3:118394887-118394888	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532651549	chr3:118394912-118394913	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538088418	chr3:118394924-118394925	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138461803	chr3:118394967-118394968	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182758273	chr3:118394973-118394974	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530101693	chr3:118395027-118395028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187008644	chr3:118395033-118395034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9830129	chr3:118395105-118395106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566944291	chr3:118395111-118395112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113356686	chr3:118395128-118395129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571718349	chr3:118395131-118395132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564710048	chr3:118395134-118395135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533983915	chr3:118395236-118395237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558420092	chr3:118395259-118395260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570622289	chr3:118395287-118395288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537791652	chr3:118395336-118395337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142098423	chr3:118395340-118395341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534509082	chr3:118395349-118395350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	20164919	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
early-passage human iPS cells	21368824	CNVD
Bipolar disorder	19114987	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118379200-118399600	Weak transcription	GM12878-XiMat	blood
2	chr3:118393800-118395000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:118395000-118399400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:118399400-118404600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:118399600-118401400	ZNF genes & repeats	GM12878-XiMat	blood
6	chr3:118400800-118403000	Enhancers	Fetal Lung	lung
7	chr3:118401000-118401400	Enhancers	Fetal Muscle Leg	muscle
8	chr3:118401000-118402200	Enhancers	Fetal Stomach	stomach
9	chr3:118401400-118405600	Weak transcription	GM12878-XiMat	blood
10	chr3:118402600-118402800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:118403000-118406000	Weak transcription	Fetal Lung	lung
12	chr3:118404000-118404800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:118404600-118404800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:118404800-118405600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:118405600-118406800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:118406000-118406800	Enhancers	Fetal Stomach	stomach
17	chr3:118406000-118407600	Enhancers	Fetal Lung	lung
18	chr3:118408000-118408800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:118410800-118411400	Enhancers	Fetal Brain Male	brain
20	chr3:118411400-118411800	Weak transcription	Fetal Brain Male	brain
21	chr3:118411800-118412000	Enhancers	Fetal Brain Male	brain
22	chr3:118412000-118419200	Weak transcription	Fetal Brain Male	brain
23	chr3:118417400-118437800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:118423200-118424800	Enhancers	Fetal Lung	lung
25	chr3:118423400-118427800	Enhancers	Fetal Brain Male	brain
26	chr3:118423800-118424600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:118423800-118424800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:118423800-118424800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr3:118423800-118425000	Enhancers	Brain Germinal Matrix	brain
30	chr3:118424000-118425000	Enhancers	Fetal Brain Female	brain
31	chr3:118424200-118424800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:118424200-118424800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:118432400-118432800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:118432400-118432800	Enhancers	HepG2	liver
35	chr3:118433800-118434200	Enhancers	Liver	Liver
36	chr3:118437800-118442600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:118441600-118441800	ZNF genes & repeats	GM12878-XiMat	blood
38	chr3:118441800-118458600	Weak transcription	GM12878-XiMat	blood
39	chr3:118442600-118448000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:118448000-118450400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:118450400-118452600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:118451200-118452400	Enhancers	HepG2	liver
43	chr3:118452600-118454200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:118454200-118458400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:118455200-118455600	Enhancers	Fetal Brain Female	brain
46	chr3:118458400-118460800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:118458600-118460400	ZNF genes & repeats	GM12878-XiMat	blood
48	chr3:118458600-118462800	Enhancers	Liver	Liver
49	chr3:118458800-118459400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr3:118459600-118461800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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