Variant report

Variant	nsv522542
Chromosome Location	chr3:119306930-119309260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119305600..119307239-chr3:119310554..119312770,2	K562	blood:
2	chr3:119298069..119302115-chr3:119304955..119308560,6	MCF-7	breast:
3	chr3:119297063..119300617-chr3:119303800..119308221,4	MCF-7	breast:
4	chr3:119305600..119307838-chr3:119310497..119312054,2	K562	blood:

Variant related genes	Relation type
ENSG00000272967	chromatin interactions
ENSG00000144843	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9860332	chr3:119306930-119306931	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568146575	chr3:119306955-119306956	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs555253352	chr3:119306979-119306980	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs146078989	chr3:119307004-119307005	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs114690098	chr3:119307018-119307019	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs568969932	chr3:119307025-119307026	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs184212508	chr3:119307028-119307029	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568854308	chr3:119307037-119307038	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113544957	chr3:119307123-119307124	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539257843	chr3:119307136-119307137	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557903744	chr3:119307161-119307162	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs140071374	chr3:119307163-119307164	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543576809	chr3:119307205-119307206	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561743957	chr3:119307228-119307229	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs78711750	chr3:119307233-119307234	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs151242774	chr3:119307287-119307288	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs560627191	chr3:119307299-119307300	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs527959402	chr3:119307323-119307324	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552513037	chr3:119307350-119307351	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs9861284	chr3:119307456-119307457	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs9861344	chr3:119307553-119307554	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs116726481	chr3:119307592-119307593	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs140903165	chr3:119307633-119307634	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs386665118	chr3:119307665-119307666	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs113447226	chr3:119307666-119307667	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs9881550	chr3:119307667-119307668	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs201571074	chr3:119307677-119307678	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs565854876	chr3:119307720-119307721	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs113233907	chr3:119307724-119307725	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs149737016	chr3:119307745-119307746	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs557752295	chr3:119307769-119307770	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs557694673	chr3:119307770-119307771	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs571648360	chr3:119307800-119307801	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs569893247	chr3:119307836-119307837	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs142986669	chr3:119307854-119307855	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs549552066	chr3:119307923-119307924	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555540578	chr3:119307938-119307939	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs374044722	chr3:119307940-119307941	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs573733737	chr3:119307978-119307979	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs9865747	chr3:119307987-119307988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs188762673	chr3:119308030-119308031	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs552899888	chr3:119308055-119308056	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs9866191	chr3:119308072-119308073	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs546506525	chr3:119308102-119308103	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs564439711	chr3:119308129-119308130	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs191047638	chr3:119308130-119308131	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs182393205	chr3:119308153-119308154	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs61575899	chr3:119308196-119308197	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187239904	chr3:119308210-119308211	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs547488234	chr3:119308211-119308212	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
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
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119299200-119307800	Weak transcription	Esophagus	oesophagus
2	chr3:119299200-119308000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:119299200-119314600	Weak transcription	Ovary	ovary
4	chr3:119299200-119315000	Weak transcription	Gastric	stomach
5	chr3:119299400-119307400	Weak transcription	Thymus	Thymus
6	chr3:119299400-119307800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:119299400-119314200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:119299400-119314400	Weak transcription	Brain Angular Gyrus	brain
9	chr3:119299600-119307200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:119299600-119307200	Weak transcription	Fetal Intestine Small	intestine
11	chr3:119299600-119307200	Weak transcription	Fetal Lung	lung
12	chr3:119299600-119307200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:119299600-119307400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:119299600-119307800	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:119299600-119308000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:119299600-119314200	Weak transcription	Brain Substantia Nigra	brain
17	chr3:119299600-119314200	Weak transcription	Psoas Muscle	Psoas
18	chr3:119299800-119307200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:119299800-119308000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:119299800-119308000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:119299800-119309200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:119299800-119314600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:119299800-119314600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr3:119299800-119318000	Weak transcription	Fetal Heart	heart
25	chr3:119301400-119307200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:119301400-119307800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:119303400-119308200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:119303400-119308200	Strong transcription	Aorta	Aorta
29	chr3:119303600-119308600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr3:119303600-119309800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr3:119304000-119308800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:119304800-119309000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:119305000-119308200	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:119305200-119308000	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:119305400-119307600	Strong transcription	Fetal Muscle Leg	muscle
36	chr3:119305400-119307600	Enhancers	HSMM	muscle
37	chr3:119305400-119308200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr3:119305400-119314400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:119305600-119307400	Strong transcription	Placenta	Placenta
40	chr3:119305600-119307600	Weak transcription	Left Ventricle	heart
41	chr3:119305600-119309400	Weak transcription	Fetal Stomach	stomach
42	chr3:119305600-119314200	Weak transcription	Lung	lung
43	chr3:119305600-119314200	Weak transcription	HSMMtube	muscle
44	chr3:119305800-119307600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:119305800-119314600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:119306000-119307200	Weak transcription	Spleen	Spleen
47	chr3:119306000-119316800	Weak transcription	Pancreas	Pancrea
48	chr3:119306200-119307800	Enhancers	Primary B cells from cord blood	blood
49	chr3:119306200-119308800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr3:119306400-119308400	Enhancers	Primary B cells from peripheral blood	blood

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