Variant report

Variant	esv3392720
Chromosome Location	chr3:56829812-56833210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:56715789..56718047-chr3:56832707..56834723,2	K562	blood:
2	chr3:56823666..56826610-chr3:56831227..56833916,2	K562	blood:
3	chr3:56736568..56737216-chr3:56833111..56833995,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163946	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12632965	chr3:56829818-56829819	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370705539	chr3:56829826-56829827	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185311640	chr3:56829829-56829830	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190210446	chr3:56829832-56829833	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138568890	chr3:56829858-56829859	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113813348	chr3:56829869-56829870	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149303707	chr3:56829870-56829871	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4681699	chr3:56829892-56829893	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs144563199	chr3:56829944-56829945	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575269725	chr3:56829956-56829957	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542185536	chr3:56830002-56830003	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs576062056	chr3:56830006-56830007	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs113462008	chr3:56830018-56830019	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs62249760	chr3:56830020-56830021	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs375316382	chr3:56830061-56830062	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs4681888	chr3:56830087-56830088	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs565477459	chr3:56830095-56830096	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs79031248	chr3:56830096-56830097	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs552709667	chr3:56830157-56830158	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs113254700	chr3:56830168-56830169	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs148425925	chr3:56830207-56830208	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs182340676	chr3:56830214-56830215	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs537369841	chr3:56830217-56830218	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs557010991	chr3:56830291-56830292	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs540184223	chr3:56830304-56830305	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs577191111	chr3:56830311-56830312	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs142586543	chr3:56830331-56830332	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs553195913	chr3:56830357-56830358	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs116180273	chr3:56830388-56830389	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs185709637	chr3:56830400-56830401	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs79441030	chr3:56830403-56830404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs574775142	chr3:56830406-56830407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs543776730	chr3:56830443-56830444	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs563872907	chr3:56830451-56830452	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7622820	chr3:56830459-56830460	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs368671057	chr3:56830483-56830484	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs577865535	chr3:56830496-56830497	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs552361598	chr3:56830497-56830498	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs140302300	chr3:56830499-56830500	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs145623031	chr3:56830504-56830505	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs547940180	chr3:56830536-56830537	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs118095002	chr3:56830566-56830567	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs536678625	chr3:56830578-56830579	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs6800401	chr3:56830579-56830580	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570802332	chr3:56830654-56830655	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs75139597	chr3:56830672-56830673	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147750479	chr3:56830701-56830702	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs189318829	chr3:56830897-56830898	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs34748892	chr3:56830968-56830969	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs573047529	chr3:56830969-56830970	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56807000-56833200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:56818600-56832000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:56819000-56830400	Weak transcription	HSMM	muscle
4	chr3:56819200-56834400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:56820600-56834600	Weak transcription	NHDF-Ad	bronchial
6	chr3:56821000-56830400	Weak transcription	Fetal Brain Female	brain
7	chr3:56822400-56833200	Weak transcription	Fetal Stomach	stomach
8	chr3:56822800-56833200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr3:56823400-56833200	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:56824600-56830200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:56825000-56831800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:56825200-56832000	Weak transcription	Brain Substantia Nigra	brain
13	chr3:56825400-56831800	Weak transcription	NHEK	skin
14	chr3:56825600-56830000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:56825600-56830400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:56825600-56832400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:56825800-56830400	Weak transcription	Lung	lung
18	chr3:56826400-56833200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:56826600-56830000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:56826600-56830600	Weak transcription	Gastric	stomach
21	chr3:56826600-56830600	Weak transcription	Ovary	ovary
22	chr3:56826600-56831000	Weak transcription	Spleen	Spleen
23	chr3:56826600-56831800	Weak transcription	Psoas Muscle	Psoas
24	chr3:56826800-56830000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:56826800-56830200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:56826800-56830200	Weak transcription	Fetal Heart	heart
27	chr3:56826800-56830800	Weak transcription	Brain Anterior Caudate	brain
28	chr3:56827400-56834400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:56827600-56831200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:56827800-56831200	Enhancers	Pancreas	Pancrea
31	chr3:56828000-56830200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr3:56828000-56830200	Genic enhancers	Dnd41	blood
33	chr3:56828000-56830600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:56828000-56830600	Genic enhancers	Thymus	Thymus
35	chr3:56828000-56831000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr3:56828200-56832400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:56828400-56830600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr3:56828600-56831400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr3:56828800-56830000	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr3:56828800-56830400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:56829000-56830000	Enhancers	Right Atrium	heart
42	chr3:56829000-56830200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:56829000-56830400	Enhancers	HUVEC	blood vessel
44	chr3:56829000-56830600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr3:56829000-56830800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:56829000-56830800	Enhancers	Adipose Nuclei	Adipose
47	chr3:56829000-56831000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:56829000-56831000	Enhancers	Fetal Lung	lung
49	chr3:56829000-56831000	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr3:56829000-56831200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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