Variant report

Variant	esv2751976
Chromosome Location	chr3:115867310-115903310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:115892441..115895134-chr9:128466129..128468903,2	MCF-7	breast:
2	chr3:115890950..115893420-chr3:115897517..115899878,2	K562	blood:
3	chr3:115890950..115893420-chr3:115897517..115899878,2	K562	blood:

Extended variants
information (count: 1410 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1410 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552538394	chr3:115867394-115867395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571034443	chr3:115867401-115867402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139860403	chr3:115867427-115867428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556709712	chr3:115867467-115867468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76256918	chr3:115867533-115867534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143847613	chr3:115867537-115867538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146365277	chr3:115867638-115867639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189334185	chr3:115867650-115867651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537537873	chr3:115867684-115867685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559042794	chr3:115867692-115867693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369926722	chr3:115867693-115867694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181201736	chr3:115867750-115867751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540528617	chr3:115867774-115867775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558418286	chr3:115867778-115867779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576992129	chr3:115867800-115867801	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs113827402	chr3:115867808-115867809	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs562280052	chr3:115867855-115867856	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529623308	chr3:115867892-115867893	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs541471906	chr3:115867917-115867918	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560404493	chr3:115867940-115867941	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs9681792	chr3:115868014-115868015	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139655988	chr3:115868015-115868016	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs9835757	chr3:115868026-115868027	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531966361	chr3:115868038-115868039	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553251598	chr3:115868042-115868043	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs34872756	chr3:115868046-115868047	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs550275551	chr3:115868055-115868056	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs568614223	chr3:115868103-115868104	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs372691995	chr3:115868105-115868106	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs185806305	chr3:115868165-115868166	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs554166591	chr3:115868176-115868177	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs544730993	chr3:115868211-115868212	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs1461113	chr3:115868230-115868231	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs533820537	chr3:115868253-115868254	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs558831923	chr3:115868259-115868260	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs541664281	chr3:115868279-115868280	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs13067291	chr3:115868361-115868362	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530574404	chr3:115868373-115868374	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs373007053	chr3:115868377-115868378	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs555838109	chr3:115868407-115868408	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574232871	chr3:115868408-115868409	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs545504502	chr3:115868409-115868410	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs541535681	chr3:115868420-115868421	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs559674577	chr3:115868466-115868467	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs56008913	chr3:115868471-115868472	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs374832458	chr3:115868472-115868473	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs55942136	chr3:115868473-115868474	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs398091757	chr3:115868474-115868475	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546162959	chr3:115868477-115868478	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs564828790	chr3:115868526-115868527	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	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
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
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115865200-115867800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:115866600-115867800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:115866600-115869000	Enhancers	Brain Cingulate Gyrus	brain
4	chr3:115866800-115871600	Enhancers	Brain Germinal Matrix	brain
5	chr3:115867000-115867600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr3:115867200-115867800	Enhancers	Brain Hippocampus Middle	brain
7	chr3:115867200-115868400	Enhancers	Brain Anterior Caudate	brain
8	chr3:115867200-115868600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr3:115867200-115869000	Enhancers	Brain Substantia Nigra	brain
10	chr3:115867200-115869800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr3:115867200-115870200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:115867200-115870200	Enhancers	Brain Angular Gyrus	brain
13	chr3:115867400-115868200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:115867400-115868800	Enhancers	Fetal Lung	lung
15	chr3:115867400-115869200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:115867400-115869600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:115867600-115867800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:115867600-115867800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:115867600-115868200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:115867600-115868400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:115867600-115868800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr3:115867600-115869200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:115867600-115869800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr3:115867600-115870200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:115867800-115868000	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr3:115867800-115868200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr3:115867800-115868200	Enhancers	Esophagus	oesophagus
28	chr3:115867800-115868200	Enhancers	NH-A	brain
29	chr3:115867800-115868400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:115867800-115868400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:115867800-115868400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:115867800-115868600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:115867800-115868600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr3:115867800-115868800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr3:115867800-115869400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:115867800-115870400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr3:115868000-115868200	Enhancers	Brain Hippocampus Middle	brain
38	chr3:115868000-115868400	Enhancers	Fetal Brain Male	brain
39	chr3:115868000-115868600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:115868200-115868400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr3:115868200-115868400	Flanking Active TSS	NH-A	brain
42	chr3:115868200-115869400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr3:115868400-115868600	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr3:115868400-115868800	Enhancers	NH-A	brain
45	chr3:115868400-115869200	Enhancers	Brain Hippocampus Middle	brain
46	chr3:115868400-115872000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:115868600-115868800	Enhancers	Brain Anterior Caudate	brain
48	chr3:115868600-115869200	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr3:115868600-115879600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:115868800-115869000	Flanking Active TSS	Brain Anterior Caudate	brain

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