Variant report

Variant	nsv934283
Chromosome Location	chr21:47801676-47802051
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	chr21:47801390..47803383-chr21:47804116..47807497,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536739614	chr21:47801706-47801707	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs78484478	chr21:47801725-47801726	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs368111523	chr21:47801739-47801740	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs371666981	chr21:47801769-47801770	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs34809663	chr21:47801787-47801788	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs374511493	chr21:47801789-47801790	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs140923662	chr21:47801790-47801791	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs371218090	chr21:47801793-47801794	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs375496615	chr21:47801794-47801795	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs374909079	chr21:47801812-47801813	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573567800	chr21:47801825-47801826	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34260703	chr21:47801834-47801835	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559319719	chr21:47801862-47801863	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533130168	chr21:47801880-47801881	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552292328	chr21:47801884-47801885	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564248373	chr21:47801887-47801888	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78213973	chr21:47801906-47801907	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs549784488	chr21:47801907-47801908	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76874771	chr21:47801914-47801915	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75351856	chr21:47801915-47801916	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs77643189	chr21:47801921-47801922	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79769247	chr21:47801926-47801927	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56063951	chr21:47801930-47801931	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544829166	chr21:47801932-47801933	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546991222	chr21:47801942-47801943	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189268019	chr21:47801946-47801947	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193224361	chr21:47801950-47801951	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148053906	chr21:47801955-47801956	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182199733	chr21:47801960-47801961	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78267285	chr21:47801964-47801965	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80343379	chr21:47801966-47801967	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566186638	chr21:47801975-47801976	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540030505	chr21:47801982-47801983	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558345464	chr21:47801983-47801984	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576211191	chr21:47801984-47801985	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537118159	chr21:47801987-47801988	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555084386	chr21:47801990-47801991	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200465479	chr21:47801992-47801993	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573566407	chr21:47801994-47801995	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540996947	chr21:47801998-47801999	Enhancers ZNF genes & repeats Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559597453	chr21:47802000-47802001	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577473761	chr21:47802008-47802009	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544806467	chr21:47802011-47802012	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138990784	chr21:47802042-47802043	Enhancers ZNF genes & repeats Strong transcription Weak 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:174 , 50 per page) page: 1 2 3 4

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	chr21:47792200-47801800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:47792200-47804600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr21:47792200-47812800	Weak transcription	Fetal Brain Male	brain
20	chr21:47792400-47801800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr21:47792400-47801800	Weak transcription	Adipose Nuclei	Adipose
22	chr21:47792400-47801800	Weak transcription	Aorta	Aorta
23	chr21:47792400-47801800	Weak transcription	Fetal Kidney	kidney
24	chr21:47792400-47801800	Weak transcription	Pancreas	Pancrea
25	chr21:47792400-47802000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr21:47792400-47804400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr21:47792400-47810200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr21:47793000-47802600	Weak transcription	HepG2	liver
29	chr21:47793000-47809000	Weak transcription	Osteobl	bone
30	chr21:47794200-47801800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr21:47794400-47804200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr21:47794600-47804400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr21:47795000-47804600	Weak transcription	Fetal Heart	heart
34	chr21:47795000-47806000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr21:47795000-47821200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr21:47795800-47806200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr21:47796000-47801800	Weak transcription	Gastric	stomach
38	chr21:47796000-47801800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr21:47796000-47804200	Weak transcription	Ovary	ovary
40	chr21:47796000-47809800	Weak transcription	HSMMtube	muscle
41	chr21:47796200-47801800	Weak transcription	Lung	lung
42	chr21:47796200-47804600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr21:47796600-47805400	Weak transcription	Placenta	Placenta
44	chr21:47797200-47803400	Strong transcription	Fetal Muscle Leg	muscle
45	chr21:47797200-47805800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr21:47797200-47806000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr21:47797200-47812200	Weak transcription	Right Atrium	heart
48	chr21:47798000-47804600	Weak transcription	Right Ventricle	heart
49	chr21:47798200-47801800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr21:47798400-47801800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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