Variant report

Variant	esv2830233
Chromosome Location	chr12:118952486-119011469
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118965385..118968060-chr12:118969035..118971481,2	K562	blood:
2	chr12:118999474..119001339-chr12:119002292..119005098,2	K562	blood:
3	chr12:118964692..118966723-chr5:177630816..177632690,2	MCF-7	breast:
4	chr12:118999474..119001339-chr12:119002292..119005098,2	K562	blood:
5	chr12:118976885..118978430-chr12:118978563..118980191,2	K562	blood:
6	chr12:118965385..118968060-chr12:118969035..118971481,2	K562	blood:
7	chr12:118976885..118978430-chr12:118978563..118980191,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197451	chromatin interactions

Extended variants
information (count: 1741 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1741 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538563132	chr12:118957231-118957232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57754368	chr12:118957265-118957266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35733118	chr12:118957318-118957319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10850988	chr12:118957338-118957339	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs540226050	chr12:118957361-118957362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560337282	chr12:118957377-118957378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111646427	chr12:118957406-118957407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551542042	chr12:118957418-118957419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566581930	chr12:118957427-118957428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531381407	chr12:118957440-118957441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551295503	chr12:118957443-118957444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150258298	chr12:118957457-118957458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564827450	chr12:118957489-118957490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372135813	chr12:118957493-118957494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542669868	chr12:118957502-118957503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368882099	chr12:118957507-118957508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527548980	chr12:118957510-118957511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112802342	chr12:118957511-118957512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370615446	chr12:118957524-118957525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75002780	chr12:118957621-118957622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138031637	chr12:118957652-118957653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559472995	chr12:118957664-118957665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149085896	chr12:118957694-118957695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184826609	chr12:118957706-118957707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528209711	chr12:118957753-118957754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10706523	chr12:118957785-118957786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76552635	chr12:118957798-118957799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs398021279	chr12:118957799-118957800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7977551	chr12:118957816-118957817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs578249595	chr12:118957825-118957826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534447665	chr12:118957863-118957864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553739473	chr12:118957890-118957891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148223958	chr12:118957892-118957893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142681507	chr12:118957893-118957894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555968150	chr12:118957954-118957955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7967848	chr12:118957970-118957971	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535462636	chr12:118957992-118957993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544798505	chr12:118958023-118958024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189705805	chr12:118958040-118958041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527586645	chr12:118958059-118958060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377039291	chr12:118958070-118958071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540889603	chr12:118958135-118958136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180807605	chr12:118958142-118958143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529252697	chr12:118958163-118958164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566383099	chr12:118958166-118958167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117963275	chr12:118958167-118958168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574276664	chr12:118958182-118958183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58622096	chr12:118958194-118958195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7953333	chr12:118958205-118958206	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs184918027	chr12:118958228-118958229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118957200-118960000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:118957600-118960000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:118958000-118978400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:118958400-118959000	Enhancers	Fetal Heart	heart
5	chr12:118958400-118959000	Enhancers	NHDF-Ad	bronchial
6	chr12:118958400-118959400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:118958600-118959400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:118958800-118959400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:118958800-118959400	Enhancers	Left Ventricle	heart
10	chr12:118959400-118962000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:118959400-118964200	Weak transcription	Left Ventricle	heart
12	chr12:118960000-118961600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:118961600-118961800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:118962000-118963000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:118963800-118965000	Enhancers	Stomach Smooth Muscle	stomach
16	chr12:118964000-118965000	Enhancers	Psoas Muscle	Psoas
17	chr12:118964000-118965000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr12:118964000-118965000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:118964200-118964600	Enhancers	Colon Smooth Muscle	Colon
20	chr12:118964200-118964600	Enhancers	Ovary	ovary
21	chr12:118964200-118964800	Enhancers	Left Ventricle	heart
22	chr12:118964200-118964800	Enhancers	Stomach Mucosa	stomach
23	chr12:118964400-118964800	Enhancers	Rectal Smooth Muscle	rectum
24	chr12:118964400-118965000	Enhancers	Right Ventricle	heart
25	chr12:118964400-118965400	Enhancers	Pancreas	Pancrea
26	chr12:118964400-118965800	Enhancers	NHDF-Ad	bronchial
27	chr12:118964600-118970000	Weak transcription	Ovary	ovary
28	chr12:118964800-118974000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:118965000-118965800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:118965000-118969800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:118965600-118965800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr12:118965800-118974000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:118966600-118966800	Weak transcription	NHDF-Ad	bronchial
34	chr12:118969600-118970200	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:118969800-118970000	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr12:118969800-118970400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr12:118970000-118970200	Enhancers	Stomach Smooth Muscle	stomach
38	chr12:118970000-118970400	Enhancers	Ovary	ovary
39	chr12:118970200-118970400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr12:118970200-118970400	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr12:118970200-118970600	Enhancers	Colon Smooth Muscle	Colon
42	chr12:118970400-118970600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr12:118970400-118970600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr12:118970400-118974000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr12:118970400-118974400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:118970400-118975000	Weak transcription	Ovary	ovary
47	chr12:118970400-118976000	Enhancers	Stomach Smooth Muscle	stomach
48	chr12:118970600-118972800	Weak transcription	Colon Smooth Muscle	Colon
49	chr12:118970600-118974200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:118970600-118975600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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