Variant report

Variant	esv3357669
Chromosome Location	chr21:47802374-47804872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47705622..47708113-chr21:47804733..47807044,2	K562	blood:
2	chr21:47796873..47800064-chr21:47803863..47807599,5	K562	blood:
3	chr21:47801390..47803383-chr21:47804116..47807497,3	K562	blood:
4	chr21:47801390..47803383-chr21:47804116..47807497,3	K562	blood:

Variant related genes	Relation type
ENSG00000182362	chromatin interactions
ENSG00000160294	chromatin interactions

Extended variants
information (count: 282 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575071252	chr21:47802385-47802386	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543596822	chr21:47802390-47802391	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530061757	chr21:47802396-47802397	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529330509	chr21:47802401-47802402	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140753985	chr21:47802409-47802410	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559462248	chr21:47802418-47802419	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533687088	chr21:47802425-47802426	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552088727	chr21:47802450-47802451	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570291592	chr21:47802482-47802483	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531125223	chr21:47802486-47802487	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2839236	chr21:47802490-47802491	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548847123	chr21:47802500-47802501	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567356637	chr21:47802507-47802508	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534391062	chr21:47802509-47802510	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112262302	chr21:47802525-47802526	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139756469	chr21:47802534-47802535	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs181287706	chr21:47802539-47802540	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556831695	chr21:47802548-47802549	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561476077	chr21:47802551-47802552	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192659368	chr21:47802562-47802563	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575135061	chr21:47802568-47802569	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184946860	chr21:47802569-47802570	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377552118	chr21:47802577-47802578	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199910105	chr21:47802582-47802583	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112853051	chr21:47802583-47802584	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574103430	chr21:47802589-47802590	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181541765	chr21:47802590-47802591	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374508521	chr21:47802608-47802609	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72497654	chr21:47802636-47802637	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559818964	chr21:47802640-47802641	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs578055702	chr21:47802649-47802650	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140325211	chr21:47802666-47802667	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117821661	chr21:47802673-47802674	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117232363	chr21:47802682-47802683	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112486078	chr21:47802683-47802684	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561290003	chr21:47802701-47802702	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113976103	chr21:47802702-47802703	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546354292	chr21:47802716-47802717	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200772278	chr21:47802717-47802718	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377312713	chr21:47802718-47802719	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142282992	chr21:47802733-47802734	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538236565	chr21:47802738-47802739	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550118927	chr21:47802747-47802748	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568816921	chr21:47802751-47802752	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536130882	chr21:47802754-47802755	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554767178	chr21:47802755-47802756	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572940171	chr21:47802757-47802758	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535147321	chr21:47802763-47802764	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553501832	chr21:47802764-47802765	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578101569	chr21:47802767-47802768	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47775600-47857600	Weak transcription	Stomach Mucosa	stomach
2	chr21:47786200-47802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:47787200-47813200	Weak transcription	NH-A	brain
4	chr21:47787400-47817000	Weak transcription	Small Intestine	intestine
5	chr21:47787800-47813600	Weak transcription	Colon Smooth Muscle	Colon
6	chr21:47788000-47813000	Weak transcription	NHDF-Ad	bronchial
7	chr21:47788000-47813600	Weak transcription	HUVEC	blood vessel
8	chr21:47789400-47807200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr21:47789400-47842600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr21:47789800-47804800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr21:47789800-47805600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr21:47789800-47809000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr21:47790000-47822000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr21:47790400-47805800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr21:47790600-47805800	Weak transcription	Colonic Mucosa	Colon
16	chr21:47792200-47804600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr21:47792200-47812800	Weak transcription	Fetal Brain Male	brain
18	chr21:47792400-47804400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr21:47792400-47810200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr21:47793000-47802600	Weak transcription	HepG2	liver
21	chr21:47793000-47809000	Weak transcription	Osteobl	bone
22	chr21:47794400-47804200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr21:47794600-47804400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr21:47795000-47804600	Weak transcription	Fetal Heart	heart
25	chr21:47795000-47806000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr21:47795000-47821200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr21:47795800-47806200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr21:47796000-47804200	Weak transcription	Ovary	ovary
29	chr21:47796000-47809800	Weak transcription	HSMMtube	muscle
30	chr21:47796200-47804600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr21:47796600-47805400	Weak transcription	Placenta	Placenta
32	chr21:47797200-47803400	Strong transcription	Fetal Muscle Leg	muscle
33	chr21:47797200-47805800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr21:47797200-47806000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr21:47797200-47812200	Weak transcription	Right Atrium	heart
36	chr21:47798000-47804600	Weak transcription	Right Ventricle	heart
37	chr21:47799200-47805400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr21:47799800-47804600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr21:47801200-47804800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr21:47801200-47804800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
41	chr21:47801200-47826200	Strong transcription	Fetal Stomach	stomach
42	chr21:47801400-47802400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
43	chr21:47801400-47802800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr21:47801400-47803200	Strong transcription	Fetal Brain Female	brain
45	chr21:47801400-47803200	ZNF genes & repeats	Fetal Thymus	thymus
46	chr21:47801400-47803400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr21:47801400-47804800	ZNF genes & repeats	Thymus	Thymus
48	chr21:47801400-47805400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr21:47801400-47805800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
50	chr21:47801400-47825000	Strong transcription	Primary T cells from cord blood	blood

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