Variant report

Variant	nsv877866
Chromosome Location	chr3:163914791-164046501
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:163988892..163990964-chr3:163991912..163993953,2	K562	blood:
2	chr3:164033562..164036466-chr3:164041623..164043945,2	MCF-7	breast:
3	chr3:163916797..163919508-chr3:163924219..163927520,3	MCF-7	breast:
4	chr3:163988892..163990964-chr3:163991912..163993953,2	K562	blood:
5	chr3:164032173..164034796-chr3:164095339..164097722,2	K562	blood:
6	chr3:163919977..163922257-chr3:163923536..163925910,2	MCF-7	breast:
7	chr3:164033562..164036466-chr3:164041623..164043945,2	MCF-7	breast:
8	chr10:36759743..36761957-chr3:163916939..163919179,2	K562	blood:
9	chr3:163916797..163919508-chr3:163924219..163927520,3	MCF-7	breast:
10	chr3:163995585..163997750-chr3:164093655..164096327,2	K562	blood:
11	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:
12	chr3:163919977..163922257-chr3:163923536..163925910,2	MCF-7	breast:
13	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:

No data

Extended variants
information (count: 5052 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:5052 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs622209	chr3:163914791-163914792	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs367836249	chr3:163915044-163915045	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114557245	chr3:163915046-163915047	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372927206	chr3:163915085-163915086	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575416446	chr3:163915086-163915087	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544758738	chr3:163915103-163915104	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564548682	chr3:163915129-163915130	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79200628	chr3:163915144-163915145	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540579761	chr3:163915174-163915175	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560183443	chr3:163915175-163915176	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569521916	chr3:163915198-163915199	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187715038	chr3:163915224-163915225	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377222807	chr3:163915236-163915237	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562609703	chr3:163915259-163915260	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545065201	chr3:163915322-163915323	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544073186	chr3:163915334-163915335	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561138832	chr3:163915335-163915336	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs624772	chr3:163915341-163915342	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551505238	chr3:163915351-163915352	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs472822	chr3:163915352-163915353	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527570259	chr3:163915375-163915376	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191250195	chr3:163915376-163915377	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184155894	chr3:163915394-163915395	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573396333	chr3:163915445-163915446	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535490121	chr3:163915467-163915468	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188381490	chr3:163915476-163915477	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569308456	chr3:163915507-163915508	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs635762	chr3:163915563-163915564	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs142240167	chr3:163915569-163915570	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550370401	chr3:163915578-163915579	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564030097	chr3:163915582-163915583	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375414024	chr3:163915610-163915611	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578139222	chr3:163915671-163915672	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150613754	chr3:163915698-163915699	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554536507	chr3:163915714-163915715	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76616248	chr3:163915723-163915724	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1796560	chr3:163915752-163915753	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562919163	chr3:163915758-163915759	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562469235	chr3:163915765-163915766	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373645151	chr3:163915792-163915793	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139667164	chr3:163915850-163915851	Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149774015	chr3:163915870-163915871	Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13074035	chr3:163915924-163915925	Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs553526998	chr3:163915933-163915934	Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548449282	chr3:163915956-163915957	Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527520823	chr3:163915974-163915975	Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146806258	chr3:163916014-163916015	Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140622281	chr3:163916063-163916064	Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567187533	chr3:163916087-163916088	Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552280475	chr3:163916107-163916108	Transcr. at gene 5' and 3' Weak 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	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
Schizophrenia	20967226	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:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163912800-163918400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:163914600-163915800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:163915800-163916400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:163916400-163917200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:163917200-163918000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:163918000-163918600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:163918200-163918600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:163918400-163918600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:163918600-163919400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:163919400-163925600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:163925600-163926000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:163925600-163926600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:163925800-163927800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:163926200-163927400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:163926400-163926800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:163926600-163927400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:163926600-163927600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:163926600-163927600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:163926600-163927800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:163926800-163927200	Enhancers	Fetal Brain Male	brain
21	chr3:163926800-163927800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:163927800-163929200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:163929200-163931000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:163931000-163931400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:163931400-163932000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:163932000-163932600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:163932600-163933200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:163933200-163934600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:163934600-163948600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:163938600-163940400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:163939200-163940000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr3:163939200-163940400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:163939200-163940400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:163939600-163940800	Enhancers	Dnd41	blood
35	chr3:163940000-163940400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr3:163940000-163940400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr3:163940000-163940400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:163946800-163947200	Active TSS	Primary hematopoietic stem cells	blood
39	chr3:163948400-163948800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:163948600-163948800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:163948800-163953000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:163948800-163953000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:163952400-163953600	Enhancers	Fetal Kidney	kidney
44	chr3:163953000-163953600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:163953000-163959200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:163953600-163954800	Weak transcription	Fetal Kidney	kidney
47	chr3:163954800-163955600	Enhancers	Fetal Kidney	kidney
48	chr3:163959200-163962000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:163962000-163962600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:163962600-163963200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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