Variant report

Variant	esv3401686
Chromosome Location	chr5:97881101-97900528
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:97880735..97882855-chr5:98107997..98110735,2	MCF-7	breast:
2	chr5:97899000..97899520-chr6:119558658..119559166,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246763	chromatin interactions
ENSG00000174136	chromatin interactions

Extended variants
information (count: 533 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183269227	chr5:97881152-97881153	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs531987732	chr5:97881200-97881201	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550149455	chr5:97881202-97881203	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs186113433	chr5:97881206-97881207	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs3860804	chr5:97881266-97881267	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189788060	chr5:97881272-97881273	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs372081830	chr5:97881277-97881278	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs566965830	chr5:97881293-97881294	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs534376698	chr5:97881300-97881301	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558991387	chr5:97881324-97881325	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs3860805	chr5:97881360-97881361	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182290777	chr5:97881364-97881365	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs556597828	chr5:97881373-97881374	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575017863	chr5:97881391-97881392	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542329859	chr5:97881436-97881437	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs554206908	chr5:97881437-97881438	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572954480	chr5:97881465-97881466	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs555595504	chr5:97881466-97881467	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs540381198	chr5:97881492-97881493	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs187802424	chr5:97881520-97881521	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs150379311	chr5:97881559-97881560	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs543832448	chr5:97881578-97881579	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs79280749	chr5:97881590-97881591	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs529606873	chr5:97881593-97881594	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs192783401	chr5:97881598-97881599	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs566515238	chr5:97881613-97881614	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs3849788	chr5:97881649-97881650	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552673327	chr5:97881652-97881653	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs552728303	chr5:97881653-97881654	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs571211972	chr5:97881671-97881672	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs538521217	chr5:97881700-97881701	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs556632022	chr5:97881705-97881706	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs149513753	chr5:97881735-97881736	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs115771157	chr5:97881747-97881748	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs11954269	chr5:97881755-97881756	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs143122130	chr5:97881794-97881795	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs572489739	chr5:97881800-97881801	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs540098062	chr5:97881835-97881836	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs371615196	chr5:97881844-97881845	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs564308587	chr5:97881847-97881848	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs139168399	chr5:97881857-97881858	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs576761562	chr5:97881859-97881860	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs183259436	chr5:97881865-97881866	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs2112144	chr5:97881875-97881876	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562413304	chr5:97881926-97881927	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs143107162	chr5:97881940-97881941	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs72771734	chr5:97881946-97881947	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs560030927	chr5:97881959-97881960	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs114193240	chr5:97881999-97882000	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs571044903	chr5:97882026-97882027	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97877000-97882000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97888800-97889800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:97889800-97895600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:97892400-97893000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:97892400-97893200	Enhancers	NHDF-Ad	bronchial
6	chr5:97892400-97894000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:97892400-97894400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:97892400-97894400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:97892600-97893000	Enhancers	NHLF	lung
10	chr5:97892600-97893200	Enhancers	NH-A	brain
11	chr5:97892600-97894400	Enhancers	Osteobl	bone
12	chr5:97893000-97894000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:97893000-97905200	Weak transcription	NHLF	lung
14	chr5:97893200-97893600	Weak transcription	NH-A	brain
15	chr5:97893200-97893600	Weak transcription	NHDF-Ad	bronchial
16	chr5:97893600-97894000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:97893600-97894400	Enhancers	NH-A	brain
18	chr5:97893600-97894400	Enhancers	NHDF-Ad	bronchial
19	chr5:97894000-97894600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:97895600-97896400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:97896400-97899200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:97897400-97897600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr5:97897400-97902800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:97897600-97898200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr5:97897800-97898200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:97898000-97899400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:97898000-97899600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr5:97898200-97898400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:97898200-97898800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:97898200-97899000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr5:97898200-97899400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:97898400-97898800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:97898400-97898800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:97898400-97898800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:97898600-97898800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:97898600-97899400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr5:97898600-97899800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:97898800-97899400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:97898800-97899600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:97898800-97902000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:97899000-97899400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:97899200-97900600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:97899400-97899600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr5:97899400-97899800	Enhancers	Duodenum Mucosa	Duodenum
45	chr5:97899400-97900000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr5:97899400-97900400	Enhancers	Stomach Mucosa	stomach
47	chr5:97899600-97899800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:97899600-97900000	Enhancers	Brain Substantia Nigra	brain
49	chr5:97899600-97900400	Enhancers	Fetal Intestine Small	intestine
50	chr5:97899600-97900800	Enhancers	Fetal Intestine Large	intestine

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