Variant report

Variant	esv20464
Chromosome Location	chr12:34699518-34856651
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
2	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:
3	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
4	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
5	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
6	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
7	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
8	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:
9	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
10	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:

No data

Extended variants
information (count: 11935 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:11935 , 50 per page) page: 1 2 3 4 5 6 7 ... 239

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181467800	chr12:34699531-34699532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112374008	chr12:34699548-34699549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs140894605	chr12:34699555-34699556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs117711942	chr12:34699563-34699564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs116729483	chr12:34699586-34699587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs527429347	chr12:34699599-34699600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs562876743	chr12:34699601-34699602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs185791744	chr12:34699711-34699712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs569001136	chr12:34699722-34699723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs565142606	chr12:34699747-34699748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs149702138	chr12:34699755-34699756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs190636365	chr12:34699814-34699815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs527853734	chr12:34699879-34699880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs182939028	chr12:34699895-34699896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs114384649	chr12:34699902-34699903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs374570735	chr12:34699906-34699907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374206295	chr12:34699911-34699912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs549559357	chr12:34699976-34699977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs115282567	chr12:34699978-34699979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs554663517	chr12:34699992-34699993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs576421993	chr12:34700054-34700055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs186150891	chr12:34700055-34700056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs529775353	chr12:34700093-34700094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs190906888	chr12:34700118-34700119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs558962159	chr12:34700143-34700144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs534773779	chr12:34700145-34700146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs554786663	chr12:34700162-34700163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs77116387	chr12:34700176-34700177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs77800446	chr12:34700179-34700180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs77567854	chr12:34700192-34700193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577436437	chr12:34700230-34700231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs547836660	chr12:34700292-34700293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs543695854	chr12:34700302-34700303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs9738473	chr12:34700310-34700311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs9668673	chr12:34700352-34700353	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs115960377	chr12:34700371-34700372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs9738478	chr12:34700372-34700373	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs527766695	chr12:34700378-34700379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs11502874	chr12:34700385-34700386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs560421125	chr12:34700386-34700387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs561529872	chr12:34700397-34700398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs572346684	chr12:34700437-34700438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs530368645	chr12:34700460-34700461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs11837221	chr12:34700462-34700463	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145449652	chr12:34700489-34700490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs148830172	chr12:34700494-34700495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs187766212	chr12:34700495-34700496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs565813848	chr12:34700501-34700502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs534683349	chr12:34700502-34700503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs200561911	chr12:34700523-34700524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34684000-34708400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:34689800-34707200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr12:34693800-34701400	ZNF genes & repeats	Liver	Liver
4	chr12:34699800-34711400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr12:34704000-34714600	ZNF genes & repeats	Liver	Liver
6	chr12:34704600-34706800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr12:34707200-34708400	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr12:34709800-34713600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr12:34712400-34728200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:34712800-34716000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr12:34717000-34717400	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr12:34719600-34722000	ZNF genes & repeats	Liver	Liver
13	chr12:34720800-34721200	Active TSS	Aorta	Aorta
14	chr12:34720800-34721400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr12:34721200-34726600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr12:34723200-34727200	ZNF genes & repeats	Liver	Liver
17	chr12:34724400-34726400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr12:34725400-34727800	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr12:34731000-34733400	ZNF genes & repeats	Liver	Liver
20	chr12:34735400-34748800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:34736800-34750800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr12:34737200-34740600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr12:34737800-34751000	ZNF genes & repeats	Liver	Liver
24	chr12:34738800-34739800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:34739800-34749400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr12:34740800-34741400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr12:34742000-34742400	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr12:34742400-34743000	Active TSS	Right Atrium	heart
29	chr12:34742400-34750600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr12:34743000-34753400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr12:34747400-34758800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:34747800-34761200	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr12:34748600-34748800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
34	chr12:34748800-34751200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:34748800-34752400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:34749000-34760600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr12:34749200-34750800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
38	chr12:34750000-34751000	ZNF genes & repeats	Spleen	Spleen
39	chr12:34752600-34752800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr12:34752800-34754400	ZNF genes & repeats	Fetal Stomach	stomach
41	chr12:34752800-34761000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:34753000-34757600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr12:34757600-34758200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:34758000-34761000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
45	chr12:34759000-34761000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
46	chr12:34767000-34767400	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr12:34768000-34770200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr12:34768000-34770800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:34768200-34769200	ZNF genes & repeats	Liver	Liver
50	chr12:34773800-34777200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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