Variant report

Variant	nsv524471
Chromosome Location	chr3:178897674-178903264
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:178898160..178900976-chr3:178901666..178903620,2	K562	blood:
2	chr3:178899086..178902333-chr3:178909040..178911935,3	K562	blood:
3	chr3:178866142..178869111-chr3:178896590..178898676,2	MCF-7	breast:
4	chr3:178802128..178803691-chr3:178902292..178905279,2	MCF-7	breast:
5	chr3:178864222..178867700-chr3:178899476..178901902,3	K562	blood:
6	chr3:178896594..178898172-chr3:178937850..178940381,2	MCF-7	breast:
7	chr3:178888452..178890564-chr3:178897631..178899148,2	MCF-7	breast:
8	chr3:178891781..178894758-chr3:178901909..178904636,2	MCF-7	breast:
9	chr3:178898456..178900555-chr3:179010797..179013245,2	K562	blood:
10	chr3:178899086..178902051-chr3:178909040..178911935,2	K562	blood:
11	chr3:178900635..178902504-chr3:178907867..178909492,2	MCF-7	breast:
12	chr3:178892192..178894702-chr3:178896410..178899147,2	K562	blood:
13	chr3:178898160..178900976-chr3:178901666..178903620,2	K562	blood:
14	chr3:178899642..178902077-chr3:178904169..178907313,3	K562	blood:
15	chr3:178896021..178899660-chr3:178900904..178904164,4	K562	blood:
16	chr3:178896021..178899660-chr3:178900904..178904164,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000121879	chromatin interactions
ENSG00000229102	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6443624	chr3:178897674-178897675	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573120554	chr3:178897740-178897741	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187655445	chr3:178897792-178897793	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192629429	chr3:178897897-178897898	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185579066	chr3:178897899-178897900	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187722779	chr3:178897994-178897995	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544755230	chr3:178898032-178898033	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561020436	chr3:178898037-178898038	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs140077131	chr3:178898139-178898140	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540500949	chr3:178898237-178898238	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560381623	chr3:178898265-178898266	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192492161	chr3:178898299-178898300	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs552147949	chr3:178898315-178898316	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566942287	chr3:178898333-178898334	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11457431	chr3:178898343-178898344	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370557561	chr3:178898352-178898353	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562384302	chr3:178898357-178898358	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531265796	chr3:178898575-178898576	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184716841	chr3:178898591-178898592	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188992775	chr3:178898677-178898678	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs370264048	chr3:178898680-178898681	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs79377531	chr3:178898685-178898686	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs557568564	chr3:178898686-178898687	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs546912293	chr3:178898737-178898738	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs181327799	chr3:178898756-178898757	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs539008212	chr3:178898768-178898769	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs184774734	chr3:178898774-178898775	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs113457056	chr3:178898785-178898786	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs189182287	chr3:178898799-178898800	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs180713168	chr3:178898809-178898810	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs149621306	chr3:178898894-178898895	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs555118175	chr3:178898908-178898909	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs575023921	chr3:178898917-178898918	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs185030924	chr3:178898933-178898934	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs144276754	chr3:178898961-178898962	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs191062950	chr3:178899059-178899060	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs148734536	chr3:178899061-178899062	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs374561642	chr3:178899089-178899090	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs531227460	chr3:178899099-178899100	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs142361783	chr3:178899110-178899111	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs561429224	chr3:178899119-178899120	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs527409933	chr3:178899142-178899143	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs547166537	chr3:178899188-178899189	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573283957	chr3:178899211-178899212	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs76229466	chr3:178899230-178899231	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs545392171	chr3:178899344-178899345	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs114871432	chr3:178899352-178899353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs552618943	chr3:178899369-178899370	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs377481831	chr3:178899491-178899492	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs569244181	chr3:178899539-178899540	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Autism	20685689	CNVD
Human papillomavirus	17975027	CNVD
Adenocarcinoma	18757405	CNVD
Lung cancer	18757405	CNVD
Squamous cell cancer	18757405	CNVD
small cell lung cancer	18757405	CNVD

Chromatin state (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178867800-178900200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:178869200-178898000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:178877400-178897800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:178883800-178905800	Weak transcription	Fetal Kidney	kidney
5	chr3:178887200-178912000	Weak transcription	Thymus	Thymus
6	chr3:178888000-178898800	Weak transcription	Fetal Brain Male	brain
7	chr3:178892800-178897800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:178893000-178898200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:178893000-178900200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:178893400-178898000	Weak transcription	HUVEC	blood vessel
11	chr3:178893400-178898000	Weak transcription	NH-A	brain
12	chr3:178893400-178898200	Weak transcription	GM12878-XiMat	blood
13	chr3:178893600-178898000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:178893800-178900800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:178894200-178898200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:178894200-178899000	Weak transcription	Primary B cells from cord blood	blood
17	chr3:178894200-178905800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:178894400-178903400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:178895400-178899000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr3:178895600-178899200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr3:178895600-178904400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr3:178896000-178897800	Enhancers	Fetal Stomach	stomach
23	chr3:178896200-178900000	Enhancers	Primary T cells from cord blood	blood
24	chr3:178896200-178900600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr3:178896200-178903600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:178896400-178898000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr3:178896400-178900000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr3:178896400-178902800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr3:178896400-178905000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:178896600-178897800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:178896600-178897800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:178896600-178898600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:178896600-178898600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:178896600-178898800	Enhancers	Fetal Lung	lung
35	chr3:178896600-178899000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr3:178896600-178899200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr3:178896600-178900000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr3:178896600-178900600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr3:178896600-178900800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr3:178896600-178902200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr3:178896600-178904200	Enhancers	Colon Smooth Muscle	Colon
42	chr3:178896800-178897800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:178896800-178897800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:178896800-178897800	Weak transcription	K562	blood
45	chr3:178896800-178898000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:178896800-178898000	Weak transcription	Brain Germinal Matrix	brain
47	chr3:178896800-178898600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:178896800-178900200	Weak transcription	Left Ventricle	heart
49	chr3:178896800-178900200	Weak transcription	Right Atrium	heart
50	chr3:178896800-178902000	Weak transcription	Gastric	stomach

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