Variant report

Variant	nsv877862
Chromosome Location	chr3:163902187-163981544
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:163919977..163922257-chr3:163923536..163925910,2	MCF-7	breast:
2	chr3:163916797..163919508-chr3:163924219..163927520,3	MCF-7	breast:
3	chr3:163919977..163922257-chr3:163923536..163925910,2	MCF-7	breast:
4	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:
5	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:
6	chr10:36759743..36761957-chr3:163916939..163919179,2	K562	blood:
7	chr3:163916797..163919508-chr3:163924219..163927520,3	MCF-7	breast:
8	chr17:57914661..57917089-chr3:163901184..163903192,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 3107 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3107 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6548335	chr3:163902187-163902188	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541893638	chr3:163902244-163902245	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143147868	chr3:163902274-163902275	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530884302	chr3:163902297-163902298	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561718552	chr3:163902304-163902305	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527656367	chr3:163902318-163902319	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147508104	chr3:163902320-163902321	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533385954	chr3:163902322-163902323	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189305756	chr3:163902369-163902370	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs710848	chr3:163902423-163902424	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs180927789	chr3:163902424-163902425	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548666388	chr3:163902449-163902450	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs35163279	chr3:163902476-163902477	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564294651	chr3:163902546-163902547	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576268196	chr3:163902555-163902556	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs75790708	chr3:163902569-163902570	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368626279	chr3:163902615-163902616	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571464874	chr3:163902637-163902638	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113725155	chr3:163902655-163902656	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs534007083	chr3:163902657-163902658	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554094947	chr3:163902678-163902679	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573821663	chr3:163902690-163902691	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542932281	chr3:163902714-163902715	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555431315	chr3:163902722-163902723	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185192982	chr3:163902725-163902726	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540072358	chr3:163902736-163902737	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs543773194	chr3:163902738-163902739	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs13085097	chr3:163902771-163902772	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs148153210	chr3:163902835-163902836	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538012952	chr3:163902862-163902863	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141947422	chr3:163902863-163902864	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540458508	chr3:163902865-163902866	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554501751	chr3:163902880-163902881	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568945804	chr3:163902913-163902914	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114227593	chr3:163902916-163902917	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs710857	chr3:163902926-163902927	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568719345	chr3:163902962-163902963	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531381960	chr3:163902990-163902991	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs188188974	chr3:163902996-163902997	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571398799	chr3:163903001-163903002	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs710858	chr3:163903015-163903016	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs553656490	chr3:163903020-163903021	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567454900	chr3:163903061-163903062	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573990353	chr3:163903075-163903076	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556465931	chr3:163903116-163903117	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575233256	chr3:163903214-163903215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs4318557	chr3:163903238-163903239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs544229370	chr3:163903239-163903240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs376155043	chr3:163903240-163903241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs559041145	chr3:163903251-163903252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	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
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Alcoholism	21790672	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163898800-163904200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163904200-163912800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:163911000-163911600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:163912400-163912800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:163912800-163913000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:163912800-163918400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:163913000-163914000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:163914000-163914600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:163914600-163915800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:163915800-163916400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:163916400-163917200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:163917200-163918000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:163918000-163918600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:163918200-163918600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:163918400-163918600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:163918600-163919400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:163919400-163925600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:163925600-163926000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:163925600-163926600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:163925800-163927800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr3:163926200-163927400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:163926400-163926800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:163926600-163927400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:163926600-163927600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:163926600-163927600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:163926600-163927800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:163926800-163927200	Enhancers	Fetal Brain Male	brain
28	chr3:163926800-163927800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:163927800-163929200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:163929200-163931000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:163931000-163931400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:163931400-163932000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:163932000-163932600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:163932600-163933200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:163933200-163934600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:163934600-163948600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:163938600-163940400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr3:163939200-163940000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr3:163939200-163940400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr3:163939200-163940400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr3:163939600-163940800	Enhancers	Dnd41	blood
42	chr3:163940000-163940400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr3:163940000-163940400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr3:163940000-163940400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:163946800-163947200	Active TSS	Primary hematopoietic stem cells	blood
46	chr3:163948400-163948800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:163948600-163948800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:163948800-163953000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:163948800-163953000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:163952400-163953600	Enhancers	Fetal Kidney	kidney

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