Variant report

Variant	esv3444205
Chromosome Location	chr11:63382515-63382833
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	chr11:63374913..63376548-chr11:63380673..63383197,2	K562	blood:

Variant related genes	Relation type
ENSG00000176485	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 83 )

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	rs12790599	chr11:63382518-63382519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs12788519	chr11:63382524-63382525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558693502	chr11:63382528-63382529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs370237849	chr11:63382533-63382534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs60261478	chr11:63382536-63382537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs58783552	chr11:63382538-63382539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12788529	chr11:63382540-63382541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190726046	chr11:63382548-63382549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs59188094	chr11:63382552-63382553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12790625	chr11:63382554-63382555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77800024	chr11:63382558-63382559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs71462327	chr11:63382563-63382564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188481457	chr11:63382568-63382569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12788681	chr11:63382570-63382571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12790804	chr11:63382574-63382575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191768719	chr11:63382578-63382579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372661410	chr11:63382579-63382580	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12788685	chr11:63382580-63382581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
19	rs112265668	chr11:63382600-63382601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112767219	chr11:63382618-63382619	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568532248	chr11:63382628-63382629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs199685936	chr11:63382634-63382635	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs112820086	chr11:63382638-63382639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376320032	chr11:63382644-63382645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372297121	chr11:63382656-63382657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs201781397	chr11:63382662-63382663	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs71462328	chr11:63382664-63382665	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs375283795	chr11:63382676-63382677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377458258	chr11:63382681-63382682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs60258582	chr11:63382703-63382704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113251942	chr11:63382704-63382705	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369867360	chr11:63382708-63382709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs370971657	chr11:63382717-63382718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs199575504	chr11:63382718-63382719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369549670	chr11:63382719-63382720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs58748864	chr11:63382720-63382721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371927225	chr11:63382740-63382741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374863965	chr11:63382752-63382753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200619845	chr11:63382756-63382757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186558934	chr11:63382758-63382759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373881894	chr11:63382761-63382762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs146553087	chr11:63382762-63382763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs140005903	chr11:63382774-63382775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374611337	chr11:63382787-63382788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs369558494	chr11:63382792-63382793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs199795942	chr11:63382794-63382795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541635481	chr11:63382795-63382796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373546584	chr11:63382798-63382799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371002734	chr11:63382803-63382804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143009848	chr11:63382811-63382812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63382000-63387600	Weak transcription	Stomach Mucosa	stomach
2	chr11:63382000-63398400	Weak transcription	Small Intestine	intestine
3	chr11:63382200-63388400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:63382200-63396400	Weak transcription	Spleen	Spleen
5	chr11:63382400-63383600	Weak transcription	Ovary	ovary
6	chr11:63382400-63384400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:63382400-63384400	Weak transcription	HepG2	liver
8	chr11:63382400-63387600	Weak transcription	K562	blood
9	chr11:63382400-63387800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:63382400-63388200	Weak transcription	Placenta	Placenta
11	chr11:63382400-63388200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:63382400-63388400	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:63382400-63389600	Weak transcription	A549	lung
14	chr11:63382400-63389800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:63382400-63389800	Weak transcription	Adipose Nuclei	Adipose
16	chr11:63382400-63389800	Weak transcription	Brain Anterior Caudate	brain
17	chr11:63382400-63389800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:63382400-63390000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:63382400-63393800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:63382400-63394200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:63382400-63396400	Weak transcription	Left Ventricle	heart
22	chr11:63382400-63398400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:63382400-63409800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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