Variant report

Variant	nsv521829
Chromosome Location	chr3:113007525-113010950
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:112769856..112770762-chr3:113006684..113008064,6	MCF-7	breast:
2	chr3:112769888..112771084-chr3:113006659..113007573,4	MCF-7	breast:
3	chr3:113005964..113007970-chr3:113009934..113012808,2	MCF-7	breast:
4	chr3:112754036..112754942-chr3:113006666..113007589,3	MCF-7	breast:
5	chr3:112854840..112855550-chr3:113006986..113007530,3	MCF-7	breast:
6	chr3:112856073..112856666-chr3:113006883..113007564,3	MCF-7	breast:
7	chr3:113006518..113009252-chr3:113022615..113024220,2	MCF-7	breast:
8	chr3:113005964..113007970-chr3:113009934..113012808,2	MCF-7	breast:
9	chr3:112854647..112855593-chr3:113006621..113007668,9	MCF-7	breast:
10	chr3:112769792..112770688-chr3:113006269..113007601,8	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR52-2	chr3:113005777-113007696	NONHSAT091225

No data

Variant related genes	Relation type
ENSG00000206530	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11919134	chr3:113007525-113007526	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571126400	chr3:113007543-113007544	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs187764646	chr3:113007568-113007569	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs17255413	chr3:113007577-113007578	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575449861	chr3:113007602-113007603	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs2650095	chr3:113007603-113007604	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs554494113	chr3:113007616-113007617	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs560490498	chr3:113007638-113007639	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs142526654	chr3:113007703-113007704	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112397057	chr3:113007710-113007711	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540123095	chr3:113007733-113007734	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556100754	chr3:113007801-113007802	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371596377	chr3:113007860-113007861	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544209000	chr3:113007904-113007905	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572340148	chr3:113007928-113007929	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562633375	chr3:113008053-113008054	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115277470	chr3:113008068-113008069	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560446147	chr3:113008074-113008075	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527906016	chr3:113008097-113008098	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561203865	chr3:113008114-113008115	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552547776	chr3:113008115-113008116	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571133276	chr3:113008166-113008167	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113970665	chr3:113008185-113008186	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs531514881	chr3:113008202-113008203	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs568949118	chr3:113008207-113008208	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76524897	chr3:113008236-113008237	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564821904	chr3:113008310-113008311	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532245578	chr3:113008340-113008341	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs193102249	chr3:113008352-113008353	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533996695	chr3:113008375-113008376	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558532944	chr3:113008394-113008395	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576767855	chr3:113008395-113008396	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544199000	chr3:113008405-113008406	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369705436	chr3:113008418-113008419	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556168544	chr3:113008443-113008444	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138633846	chr3:113008448-113008449	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541928484	chr3:113008464-113008465	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560638830	chr3:113008474-113008475	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs527840917	chr3:113008498-113008499	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374635553	chr3:113008506-113008507	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs149336889	chr3:113008514-113008515	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558937704	chr3:113008546-113008547	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564619139	chr3:113008559-113008560	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs7652801	chr3:113008606-113008607	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs564488575	chr3:113008642-113008643	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568837734	chr3:113008659-113008660	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529738680	chr3:113008660-113008661	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547932989	chr3:113008676-113008677	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566574164	chr3:113008703-113008704	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs533739020	chr3:113008715-113008716	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	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
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Breast cancer	17142309	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112984800-113016400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:112990400-113036000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:112993800-113036000	Weak transcription	Right Ventricle	heart
4	chr3:112995200-113016000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:112995200-113022400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:112995400-113024000	Weak transcription	Aorta	Aorta
7	chr3:112995400-113035800	Weak transcription	Lung	lung
8	chr3:112995600-113008400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:112995800-113013000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:112995800-113035800	Weak transcription	Thymus	Thymus
11	chr3:112996000-113025400	Weak transcription	Small Intestine	intestine
12	chr3:112996200-113034400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:112996400-113046400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr3:112997200-113036200	Weak transcription	Spleen	Spleen
15	chr3:112998600-113036000	Weak transcription	Gastric	stomach
16	chr3:113000200-113016400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:113000800-113014400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:113001200-113025400	Weak transcription	Brain Anterior Caudate	brain
19	chr3:113001200-113044600	Weak transcription	Fetal Kidney	kidney
20	chr3:113003200-113015400	Weak transcription	Brain Germinal Matrix	brain
21	chr3:113003400-113022600	Weak transcription	Colonic Mucosa	Colon
22	chr3:113003800-113016200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:113003800-113023000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:113004000-113007800	Weak transcription	Fetal Brain Female	brain
25	chr3:113004200-113023800	Weak transcription	Brain Substantia Nigra	brain
26	chr3:113004600-113008000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:113004600-113008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:113004600-113016200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:113005600-113007600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:113005600-113029800	Weak transcription	Fetal Intestine Large	intestine
31	chr3:113005800-113008000	Enhancers	Colon Smooth Muscle	Colon
32	chr3:113006200-113007600	Weak transcription	Brain Angular Gyrus	brain
33	chr3:113006200-113007600	Weak transcription	Fetal Intestine Small	intestine
34	chr3:113006200-113009000	Weak transcription	Fetal Lung	lung
35	chr3:113006200-113009400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:113006200-113010400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:113006200-113010400	Weak transcription	Ovary	ovary
38	chr3:113006200-113035400	Weak transcription	Esophagus	oesophagus
39	chr3:113006200-113036000	Weak transcription	Pancreas	Pancrea
40	chr3:113006400-113007600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr3:113006400-113008000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:113006400-113009000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:113006400-113009600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:113006600-113007600	Weak transcription	Fetal Muscle Leg	muscle
45	chr3:113006600-113024000	Weak transcription	HSMMtube	muscle
46	chr3:113006800-113007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:113006800-113007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:113006800-113010800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:113006800-113015800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:113006800-113022600	Weak transcription	Hela-S3	cervix

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