Variant report

Variant	esv6157
Chromosome Location	chr3:17731444-17732222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:17726957..17730197-chr3:17731343..17734171,3	K562	blood:
2	chr3:17472510..17474069-chr3:17729758..17732549,2	K562	blood:
3	chr3:17731991..17733864-chr3:17783866..17786187,2	K562	blood:
4	chr3:17729939..17731943-chr3:17732995..17734878,2	MCF-7	breast:
5	chr3:17726443..17728457-chr3:17731343..17734227,2	K562	blood:
6	chr3:17729826..17731656-chr3:17733369..17736169,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131374	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545021185	chr3:17731504-17731505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75108206	chr3:17731507-17731508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374934620	chr3:17731544-17731545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185452298	chr3:17731553-17731554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189761590	chr3:17731577-17731578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373202097	chr3:17731600-17731601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574536891	chr3:17731694-17731695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199642827	chr3:17731696-17731697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201504430	chr3:17731701-17731702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199667943	chr3:17731703-17731704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201496839	chr3:17731704-17731705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530648559	chr3:17731736-17731737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560983342	chr3:17731737-17731738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550360356	chr3:17731748-17731749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529776603	chr3:17731870-17731871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9833367	chr3:17731883-17731884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11706757	chr3:17731916-17731917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374656258	chr3:17731918-17731919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539350121	chr3:17731930-17731931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9813679	chr3:17731974-17731975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112599655	chr3:17731986-17731987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552962205	chr3:17731999-17732000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143398781	chr3:17732004-17732005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200728423	chr3:17732007-17732008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566192522	chr3:17732026-17732027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs57309958	chr3:17732035-17732036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9837332	chr3:17732081-17732082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs11707521	chr3:17732103-17732104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs182458351	chr3:17732160-17732161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571888704	chr3:17732161-17732162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs56059241	chr3:17732173-17732174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556901111	chr3:17732198-17732199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375731938	chr3:17732201-17732202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573804131	chr3:17732204-17732205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114992729	chr3:17732211-17732212	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	21364760	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17707000-17734800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr3:17709200-17732000	Weak transcription	Psoas Muscle	Psoas
3	chr3:17711400-17755000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr3:17712600-17732600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:17720000-17747400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:17720200-17734200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:17720600-17734400	Weak transcription	Dnd41	blood
8	chr3:17723400-17735200	Weak transcription	Gastric	stomach
9	chr3:17723600-17734400	Weak transcription	Primary B cells from cord blood	blood
10	chr3:17723600-17736000	Weak transcription	Pancreas	Pancrea
11	chr3:17723600-17736800	Weak transcription	Ovary	ovary
12	chr3:17724600-17734800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:17725800-17734400	Weak transcription	A549	lung
14	chr3:17726600-17734200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:17726800-17742200	Weak transcription	Stomach Mucosa	stomach
16	chr3:17729400-17734200	Weak transcription	K562	blood
17	chr3:17730400-17734400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:17730400-17734600	Weak transcription	Spleen	Spleen
19	chr3:17731600-17734200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:17731600-17755600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:17731800-17734400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:17732000-17732400	Enhancers	Psoas Muscle	Psoas
23	chr3:17732200-17749400	Weak transcription	NHEK	skin

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