Variant report

Variant	esv3488768
Chromosome Location	chr21:47801848-47804659
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 310 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559319719	chr21:47801862-47801863	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533130168	chr21:47801880-47801881	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552292328	chr21:47801884-47801885	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564248373	chr21:47801887-47801888	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78213973	chr21:47801906-47801907	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
6	rs549784488	chr21:47801907-47801908	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76874771	chr21:47801914-47801915	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75351856	chr21:47801915-47801916	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs77643189	chr21:47801921-47801922	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79769247	chr21:47801926-47801927	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56063951	chr21:47801930-47801931	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544829166	chr21:47801932-47801933	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546991222	chr21:47801942-47801943	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189268019	chr21:47801946-47801947	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193224361	chr21:47801950-47801951	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148053906	chr21:47801955-47801956	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182199733	chr21:47801960-47801961	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78267285	chr21:47801964-47801965	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80343379	chr21:47801966-47801967	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566186638	chr21:47801975-47801976	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540030505	chr21:47801982-47801983	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558345464	chr21:47801983-47801984	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576211191	chr21:47801984-47801985	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537118159	chr21:47801987-47801988	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555084386	chr21:47801990-47801991	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200465479	chr21:47801992-47801993	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573566407	chr21:47801994-47801995	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540996947	chr21:47801998-47801999	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559597453	chr21:47802000-47802001	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577473761	chr21:47802008-47802009	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544806467	chr21:47802011-47802012	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138990784	chr21:47802042-47802043	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531704711	chr21:47802052-47802053	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184407571	chr21:47802061-47802062	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143111553	chr21:47802062-47802063	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150850349	chr21:47802066-47802067	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111766350	chr21:47802093-47802094	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113463645	chr21:47802124-47802125	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566375299	chr21:47802154-47802155	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533622480	chr21:47802155-47802156	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377655824	chr21:47802157-47802158	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150031904	chr21:47802175-47802176	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568392556	chr21:47802182-47802183	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570229446	chr21:47802192-47802193	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537177684	chr21:47802202-47802203	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144405875	chr21:47802218-47802219	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567199089	chr21:47802260-47802261	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189293914	chr21:47802298-47802299	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143867240	chr21:47802300-47802301	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577538204	chr21:47802315-47802316	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:281 , 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	chr21:47789000-47802200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr21:47789400-47807200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr21:47789400-47842600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr21:47789800-47804800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr21:47789800-47805600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr21:47789800-47809000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr21:47790000-47822000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr21:47790400-47805800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr21:47790600-47805800	Weak transcription	Colonic Mucosa	Colon
17	chr21:47792200-47804600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr21:47792200-47812800	Weak transcription	Fetal Brain Male	brain
19	chr21:47792400-47802000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr21:47792400-47804400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr21:47792400-47810200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr21:47793000-47802600	Weak transcription	HepG2	liver
23	chr21:47793000-47809000	Weak transcription	Osteobl	bone
24	chr21:47794400-47804200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr21:47794600-47804400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr21:47795000-47804600	Weak transcription	Fetal Heart	heart
27	chr21:47795000-47806000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:47795000-47821200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr21:47795800-47806200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr21:47796000-47804200	Weak transcription	Ovary	ovary
31	chr21:47796000-47809800	Weak transcription	HSMMtube	muscle
32	chr21:47796200-47804600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr21:47796600-47805400	Weak transcription	Placenta	Placenta
34	chr21:47797200-47803400	Strong transcription	Fetal Muscle Leg	muscle
35	chr21:47797200-47805800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr21:47797200-47806000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr21:47797200-47812200	Weak transcription	Right Atrium	heart
38	chr21:47798000-47804600	Weak transcription	Right Ventricle	heart
39	chr21:47798600-47802000	Weak transcription	HMEC	breast
40	chr21:47799200-47805400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr21:47799800-47804600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr21:47800000-47802000	Weak transcription	Fetal Intestine Large	intestine
43	chr21:47801000-47802000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr21:47801200-47802000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr21:47801200-47802000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr21:47801200-47802000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr21:47801200-47802000	Strong transcription	A549	lung
48	chr21:47801200-47804800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr21:47801200-47804800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr21:47801200-47826200	Strong transcription	Fetal Stomach	stomach

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