Variant report

Variant	esv2606873
Chromosome Location	chr3:98601225-98602816
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:98601246..98603654-chr3:98609491..98611352,2	K562	blood:
2	chr3:98595385..98598220-chr3:98601282..98604965,3	K562	blood:
3	chr3:98602528..98604913-chr3:98611525..98613667,2	K562	blood:
4	chr3:98597641..98599720-chr3:98602345..98604464,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561112132	chr3:98601263-98601264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71311402	chr3:98601270-98601271	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569179647	chr3:98601282-98601283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531898646	chr3:98601302-98601303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367564708	chr3:98601311-98601312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371806752	chr3:98601319-98601320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548333801	chr3:98601328-98601329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549827414	chr3:98601336-98601337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534028385	chr3:98601343-98601344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7629555	chr3:98601344-98601345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568719087	chr3:98601385-98601386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539199913	chr3:98601412-98601413	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs149392965	chr3:98601460-98601461	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs72936667	chr3:98601467-98601468	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377195481	chr3:98601468-98601469	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs551283953	chr3:98601472-98601473	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs148157287	chr3:98601487-98601488	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs76948970	chr3:98601491-98601492	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs150233732	chr3:98601520-98601521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs555367114	chr3:98601573-98601574	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs2454680	chr3:98601654-98601655	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs185623711	chr3:98601715-98601716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369723379	chr3:98601738-98601739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537957510	chr3:98601745-98601746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556255276	chr3:98601758-98601759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564236500	chr3:98601762-98601763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577685411	chr3:98601835-98601836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543371592	chr3:98601855-98601856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11716579	chr3:98601887-98601888	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531838548	chr3:98601891-98601892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111554771	chr3:98601928-98601929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561933945	chr3:98601957-98601958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113806124	chr3:98602037-98602038	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397877344	chr3:98602039-98602040	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547550232	chr3:98602040-98602041	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72936668	chr3:98602091-98602092	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539560618	chr3:98602218-98602219	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373013625	chr3:98602238-98602239	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138324104	chr3:98602242-98602243	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573638367	chr3:98602302-98602303	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181028020	chr3:98602440-98602441	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs186839597	chr3:98602447-98602448	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs555736300	chr3:98602565-98602566	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs2119190	chr3:98602585-98602586	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs191783857	chr3:98602626-98602627	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs542567156	chr3:98602652-98602653	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs577624940	chr3:98602664-98602665	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs143819898	chr3:98602682-98602683	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs562941584	chr3:98602696-98602697	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs556376392	chr3:98602762-98602763	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
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
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
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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98575400-98603800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:98575800-98603200	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:98575800-98603800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:98583400-98611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:98584400-98607200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:98584600-98604200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:98587200-98604600	Weak transcription	Ovary	ovary
8	chr3:98587800-98601800	Strong transcription	HSMM	muscle
9	chr3:98589200-98602200	Weak transcription	NHLF	lung
10	chr3:98589400-98609200	Weak transcription	Fetal Intestine Large	intestine
11	chr3:98589800-98604000	Weak transcription	Fetal Stomach	stomach
12	chr3:98590000-98609600	Weak transcription	Brain Anterior Caudate	brain
13	chr3:98590800-98604600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:98591400-98602200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:98591400-98604200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:98591600-98604600	Weak transcription	Aorta	Aorta
17	chr3:98592600-98604600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:98593800-98604600	Weak transcription	Psoas Muscle	Psoas
19	chr3:98593800-98619400	Weak transcription	Small Intestine	intestine
20	chr3:98594400-98616600	Weak transcription	Fetal Brain Male	brain
21	chr3:98594600-98602200	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr3:98594600-98604200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:98595000-98603600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:98595200-98608800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:98595600-98601800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:98596000-98604000	Weak transcription	K562	blood
27	chr3:98596200-98606600	Weak transcription	HepG2	liver
28	chr3:98596800-98604200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:98597000-98609000	Weak transcription	Right Ventricle	heart
30	chr3:98597400-98619000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:98597600-98602400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:98597600-98602800	Strong transcription	HMEC	breast
33	chr3:98597800-98602800	Strong transcription	Osteobl	bone
34	chr3:98597800-98604200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:98598000-98603800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:98598200-98602200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:98598200-98608400	Weak transcription	Fetal Intestine Small	intestine
38	chr3:98598400-98601600	Strong transcription	NHDF-Ad	bronchial
39	chr3:98598400-98604200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:98598600-98601600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:98599000-98602200	Strong transcription	NH-A	brain
42	chr3:98599000-98603200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:98599000-98603200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:98599000-98603800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:98599200-98609400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr3:98599400-98603600	Weak transcription	Adipose Nuclei	Adipose
47	chr3:98599600-98602400	Weak transcription	Fetal Heart	heart
48	chr3:98599600-98602600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:98599600-98603800	Weak transcription	Fetal Kidney	kidney
50	chr3:98599800-98609000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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