Variant report

Variant	nsv524086
Chromosome Location	chr3:113255172-113264994
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:113231532..113235670-chr3:113264578..113267346,3	MCF-7	breast:
2	chr3:113264597..113268411-chr3:113270878..113272522,4	MCF-7	breast:
3	chr3:113249622..113253556-chr3:113257266..113259674,3	MCF-7	breast:
4	chr3:113254930..113255834-chr3:113270582..113271304,2	MCF-7	breast:
5	chr3:113254497..113255223-chr3:113296850..113297376,2	MCF-7	breast:
6	chr3:113229615..113239929-chr3:113247196..113257849,45	MCF-7	breast:
7	chr3:113255479..113257410-chr3:113291242..113292943,2	MCF-7	breast:
8	chr3:113254658..113255498-chr3:113275897..113276863,4	MCF-7	breast:
9	chr3:113260606..113263233-chr3:113265978..113268131,2	MCF-7	breast:
10	chr3:113215914..113218639-chr3:113252642..113255587,3	MCF-7	breast:
11	chr3:113254346..113256305-chr3:113270288..113271550,7	MCF-7	breast:
12	chr3:113232632..113237183-chr3:113263393..113272581,15	MCF-7	breast:
13	chr3:113233157..113235382-chr3:113259664..113262646,3	MCF-7	breast:
14	chr3:113219243..113222191-chr3:113264588..113266583,2	MCF-7	breast:
15	chr3:113255150..113258463-chr3:113464211..113467457,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000072858	chromatin interactions
ENSG00000242659	chromatin interactions
ENSG00000121579	chromatin interactions
ENSG00000163611	chromatin interactions
ENSG00000114573	chromatin interactions

Extended variants
information (count: 383 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4621301	chr3:113255172-113255173	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114784814	chr3:113255173-113255174	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs559700570	chr3:113255189-113255190	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs545037391	chr3:113255213-113255214	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs183401224	chr3:113255230-113255231	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs530498921	chr3:113255233-113255234	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs187839322	chr3:113255248-113255249	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs529974054	chr3:113255249-113255250	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs528286841	chr3:113255254-113255255	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs368972200	chr3:113255290-113255291	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs546725172	chr3:113255345-113255346	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs373762656	chr3:113255391-113255392	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs192758991	chr3:113255395-113255396	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs538508217	chr3:113255405-113255406	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs550442217	chr3:113255451-113255452	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs115832793	chr3:113255534-113255535	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs184119800	chr3:113255587-113255588	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs374406370	chr3:113255595-113255596	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs573246630	chr3:113255630-113255631	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs149094839	chr3:113255631-113255632	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs187920589	chr3:113255715-113255716	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs143181088	chr3:113255742-113255743	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs577351336	chr3:113255775-113255776	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs6780755	chr3:113255799-113255800	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567362237	chr3:113255811-113255812	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs6805231	chr3:113255815-113255816	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575353215	chr3:113255838-113255839	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs6771864	chr3:113255892-113255893	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192634437	chr3:113255943-113255944	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs560821340	chr3:113255968-113255969	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs528158537	chr3:113255988-113255989	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs546489649	chr3:113256011-113256012	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs565120499	chr3:113256016-113256017	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs6807610	chr3:113256038-113256039	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534763838	chr3:113256061-113256062	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs546233940	chr3:113256104-113256105	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs567729066	chr3:113256105-113256106	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs536516682	chr3:113256238-113256239	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs538246837	chr3:113256268-113256269	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs554866859	chr3:113256289-113256290	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs576360020	chr3:113256312-113256313	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs550507971	chr3:113256316-113256317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs2399486	chr3:113256338-113256339	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs536254757	chr3:113256349-113256350	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs138784950	chr3:113256358-113256359	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs566867829	chr3:113256381-113256382	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs67512681	chr3:113256401-113256402	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs375975498	chr3:113256499-113256500	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs2895414	chr3:113256503-113256504	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571075498	chr3:113256518-113256519	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Ductal carcinoma	22052326	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113252600-113256400	Weak transcription	Esophagus	oesophagus
2	chr3:113253400-113256000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:113253600-113255400	Weak transcription	Small Intestine	intestine
4	chr3:113253800-113255600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:113253800-113257200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:113253800-113257200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr3:113253800-113257200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr3:113253800-113257400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:113253800-113260800	Weak transcription	Thymus	Thymus
10	chr3:113254000-113256200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr3:113254000-113256200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr3:113254000-113257200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr3:113254000-113257800	Weak transcription	Spleen	Spleen
14	chr3:113254000-113258400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr3:113254200-113260000	Weak transcription	Fetal Thymus	thymus
16	chr3:113254400-113255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:113254400-113256600	Genic enhancers	Primary T cells from cord blood	blood
18	chr3:113254400-113256800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:113254400-113258400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr3:113254600-113255600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr3:113254600-113255600	Enhancers	Dnd41	blood
22	chr3:113254600-113255800	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr3:113254600-113256200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
24	chr3:113254600-113256400	Genic enhancers	Primary B cells from peripheral blood	blood
25	chr3:113254600-113257200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr3:113254800-113255400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:113254800-113257000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:113254800-113257200	Strong transcription	Primary B cells from cord blood	blood
29	chr3:113255000-113255200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:113255000-113255200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr3:113255000-113255200	Enhancers	Gastric	stomach
32	chr3:113255000-113255400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr3:113255000-113255400	Flanking Active TSS	A549	lung
34	chr3:113255000-113255800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr3:113255000-113256000	Enhancers	NHEK	skin
36	chr3:113255000-113256400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:113255000-113256400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:113255000-113256400	Enhancers	Hela-S3	cervix
39	chr3:113255000-113256600	Enhancers	Primary hematopoietic stem cells	blood
40	chr3:113255000-113256600	Enhancers	HMEC	breast
41	chr3:113255000-113256800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr3:113255000-113256800	Enhancers	Stomach Mucosa	stomach
43	chr3:113255200-113255400	Bivalent Enhancer	HUVEC	blood vessel
44	chr3:113255200-113255600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:113255200-113256400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:113255400-113255800	Enhancers	Small Intestine	intestine
47	chr3:113255400-113256200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr3:113255400-113256600	Enhancers	A549	lung
49	chr3:113255400-113278800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr3:113255600-113256800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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