Variant report

Variant	nsv877884
Chromosome Location	chr3:163941553-164018044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163988892..163990964-chr3:163991912..163993953,2	K562	blood:
2	chr3:163995585..163997750-chr3:164093655..164096327,2	K562	blood:
3	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:
4	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:
5	chr3:163988892..163990964-chr3:163991912..163993953,2	K562	blood:

Extended variants
information (count: 2834 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2834 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs483558	chr3:163941553-163941554	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79466918	chr3:163941564-163941565	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150453013	chr3:163941569-163941570	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550187974	chr3:163941581-163941582	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554240293	chr3:163941598-163941599	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571793562	chr3:163941620-163941621	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574158329	chr3:163941658-163941659	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190442957	chr3:163941660-163941661	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138296992	chr3:163941678-163941679	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576519418	chr3:163941700-163941701	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149191659	chr3:163941725-163941726	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539210789	chr3:163941732-163941733	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572441078	chr3:163941758-163941759	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540603708	chr3:163941780-163941781	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560597513	chr3:163941808-163941809	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182011434	chr3:163941882-163941883	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549573863	chr3:163941919-163941920	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563402599	chr3:163941921-163941922	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186246792	chr3:163941928-163941929	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs487268	chr3:163941947-163941948	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs141882873	chr3:163941970-163941971	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189724975	chr3:163941983-163941984	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534942257	chr3:163941999-163942000	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547806297	chr3:163942002-163942003	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145142487	chr3:163942030-163942031	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536659192	chr3:163942053-163942054	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556334039	chr3:163942078-163942079	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570082637	chr3:163942083-163942084	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139025899	chr3:163942104-163942105	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536523393	chr3:163942107-163942108	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116385699	chr3:163942151-163942152	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368138906	chr3:163942168-163942169	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572402460	chr3:163942172-163942173	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541367424	chr3:163942184-163942185	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182404813	chr3:163942210-163942211	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188334782	chr3:163942211-163942212	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543429002	chr3:163942212-163942213	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558100579	chr3:163942216-163942217	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191076637	chr3:163942236-163942237	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532266234	chr3:163942242-163942243	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552376770	chr3:163942335-163942336	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531966772	chr3:163942493-163942494	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71630489	chr3:163942496-163942497	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115783322	chr3:163942504-163942505	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79751665	chr3:163942506-163942507	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199708762	chr3:163942510-163942511	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200675835	chr3:163942512-163942513	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183189183	chr3:163942544-163942545	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554561959	chr3:163942552-163942553	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146191680	chr3:163942586-163942587	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	19651600	CNVD
Autism	19287141	CNVD
Incontinentia Pigmenti	22033527	CNVD
Rett syndrome	21593744	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glioma	20126413	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163934600-163948600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163946800-163947200	Active TSS	Primary hematopoietic stem cells	blood
3	chr3:163948400-163948800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:163948600-163948800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:163948800-163953000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:163948800-163953000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:163952400-163953600	Enhancers	Fetal Kidney	kidney
8	chr3:163953000-163953600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:163953000-163959200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:163953600-163954800	Weak transcription	Fetal Kidney	kidney
11	chr3:163954800-163955600	Enhancers	Fetal Kidney	kidney
12	chr3:163959200-163962000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:163962000-163962600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:163962600-163963200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:163963200-163995200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:163979000-163996200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:163982400-163983200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:163990800-163993200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:163994400-163995200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr3:163995200-164000600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:163996200-163997000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr3:164000600-164002200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:164002200-164003000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:164003000-164005600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:164005600-164006800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:164006800-164007200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:164007200-164007600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:164007600-164009400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:164009400-164009800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr3:164009400-164009800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr3:164009400-164009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:164009800-164014200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:164014200-164015400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:164015400-164017000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:164017000-164017400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:164017400-164019800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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