Variant report

Variant	nsv536635
Chromosome Location	chr3:88049304-88088520
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:88079258..88082127-chr3:88106343..88109218,2	MCF-7	breast:
2	chr3:88072207..88074802-chr3:88105845..88108496,2	MCF-7	breast:
3	chr3:87357099..87357611-chr3:88052047..88052883,2	MCF-7	breast:
4	chr3:88074214..88076537-chr3:88081925..88083719,2	MCF-7	breast:
5	chr3:88079170..88082380-chr3:88083202..88085793,3	MCF-7	breast:
6	chr3:87820271..87821383-chr3:88051902..88052924,6	MCF-7	breast:
7	chr3:88085983..88088623-chr3:88097073..88098808,2	K562	blood:
8	chr3:87347086..87347849-chr3:88053921..88054500,4	K562	blood:
9	chr3:87347323..87347867-chr3:88052112..88052616,2	MCF-7	breast:
10	chr3:88079170..88082380-chr3:88083202..88085793,3	MCF-7	breast:
11	chr3:88052019..88052534-chr3:88229404..88230324,2	K562	blood:
12	chr3:87948990..87949967-chr3:88052412..88052973,2	MCF-7	breast:
13	chr3:88052116..88052791-chr3:88162487..88163183,2	MCF-7	breast:
14	chr3:88083004..88084831-chr3:88105005..88107932,2	K562	blood:
15	chr3:88053861..88054645-chr3:88162537..88163109,2	MCF-7	breast:
16	chr3:87346979..87347869-chr3:88051982..88053083,6	K562	blood:
17	chr3:87399642..87400413-chr3:88051980..88052794,3	MCF-7	breast:
18	chr3:87820697..87821585-chr3:88052369..88052934,2	MCF-7	breast:
19	chr3:87949008..87949986-chr3:88051988..88052893,3	MCF-7	breast:
20	chr3:88087550..88089989-chr3:88107384..88108978,2	MCF-7	breast:
21	chr3:88080562..88082885-chr3:88098755..88100923,2	MCF-7	breast:
22	chr3:87018737..87019599-chr3:88052398..88053240,2	K562	blood:
23	chr3:88083923..88086770-chr3:88102079..88103934,2	K562	blood:
24	chr3:87308946..87309657-chr3:88053915..88054840,2	K562	blood:
25	chr3:88059986..88062721-chr3:88094080..88096145,2	K562	blood:
26	chr3:88074214..88076537-chr3:88081925..88083719,2	MCF-7	breast:
27	chr3:88073344..88075213-chr3:88081187..88083311,2	K562	blood:
28	chr3:88073344..88075213-chr3:88081187..88083311,2	K562	blood:
29	chr3:88083331..88085541-chr3:88104332..88106505,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163320	chromatin interactions
ENSG00000229729	chromatin interactions

Extended variants
information (count: 1170 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1170 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561775176	chr3:88049312-88049313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184588518	chr3:88049315-88049316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528488371	chr3:88049358-88049359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147195458	chr3:88049384-88049385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565245657	chr3:88049454-88049455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532550233	chr3:88049460-88049461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148655365	chr3:88049495-88049496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142882567	chr3:88049546-88049547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542374100	chr3:88049588-88049589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529825397	chr3:88049606-88049607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6798161	chr3:88049630-88049631	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566442629	chr3:88049694-88049695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151058842	chr3:88049750-88049751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552455596	chr3:88049757-88049758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531284970	chr3:88049803-88049804	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570804371	chr3:88049818-88049819	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537632239	chr3:88049915-88049916	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112896020	chr3:88049981-88049982	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188238631	chr3:88049986-88049987	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575625291	chr3:88050004-88050005	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs536722167	chr3:88050007-88050008	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs554658189	chr3:88050034-88050035	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs12637966	chr3:88050048-88050049	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs572861113	chr3:88050083-88050084	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs143585158	chr3:88050101-88050102	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs539468943	chr3:88050121-88050122	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs565229745	chr3:88050154-88050155	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs577500480	chr3:88050161-88050162	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs181773418	chr3:88050169-88050170	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs546630557	chr3:88050193-88050194	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs563072151	chr3:88050198-88050199	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs530248559	chr3:88050203-88050204	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548268342	chr3:88050205-88050206	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560296418	chr3:88050206-88050207	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566963087	chr3:88050209-88050210	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186280295	chr3:88050251-88050252	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567951442	chr3:88050341-88050342	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375447270	chr3:88050346-88050347	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190306263	chr3:88050347-88050348	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538167564	chr3:88050348-88050349	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549827543	chr3:88050373-88050374	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146772716	chr3:88050415-88050416	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs535276967	chr3:88050459-88050460	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs111992313	chr3:88050473-88050474	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs201984060	chr3:88050486-88050487	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs35097235	chr3:88050535-88050536	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs533726421	chr3:88050563-88050564	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs553705098	chr3:88050607-88050608	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs535613320	chr3:88050626-88050627	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs567143993	chr3:88050638-88050639	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88046800-88049800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:88046800-88050000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:88046800-88050000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr3:88046800-88050000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr3:88046800-88050000	Weak transcription	Gastric	stomach
6	chr3:88046800-88050000	Weak transcription	NH-A	brain
7	chr3:88046800-88054400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:88047000-88050000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr3:88047200-88050000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:88047400-88049800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:88047400-88050000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:88047400-88050000	Weak transcription	Liver	Liver
13	chr3:88047400-88050000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:88048400-88050000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:88048600-88050000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr3:88048600-88050000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:88048600-88050000	Weak transcription	Right Ventricle	heart
18	chr3:88048600-88050000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr3:88048600-88054200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:88048800-88049800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:88049800-88050000	Enhancers	Adipose Nuclei	Adipose
22	chr3:88049800-88050200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr3:88049800-88050200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:88049800-88050200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:88049800-88050200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:88049800-88050400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr3:88049800-88050400	Active TSS	Right Atrium	heart
28	chr3:88049800-88050600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:88049800-88050600	Active TSS	Brain Anterior Caudate	brain
30	chr3:88049800-88050600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr3:88049800-88050600	Active TSS	Brain Substantia Nigra	brain
32	chr3:88049800-88050600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr3:88049800-88050600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr3:88050000-88050200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:88050000-88050200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr3:88050000-88050200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
37	chr3:88050000-88050200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:88050000-88050200	Active TSS	Brain Germinal Matrix	brain
39	chr3:88050000-88050200	Active TSS	Esophagus	oesophagus
40	chr3:88050000-88050200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr3:88050000-88050200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
42	chr3:88050000-88050200	Active TSS	Fetal Muscle Trunk	muscle
43	chr3:88050000-88050200	Flanking Active TSS	Placenta	Placenta
44	chr3:88050000-88050200	Active TSS	Gastric	stomach
45	chr3:88050000-88050200	Flanking Active TSS	Right Ventricle	heart
46	chr3:88050000-88050200	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr3:88050000-88050200	Bivalent Enhancer	Small Intestine	intestine
48	chr3:88050000-88050200	Bivalent/Poised TSS	HSMM	muscle
49	chr3:88050000-88050400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr3:88050000-88050400	Active TSS	HUES6 Cell Line	embryonic stem cell

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