Variant report

Variant	nsv587867
Chromosome Location	chr21:47338723-47344584
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47343400..47344981-chr21:47348595..47351578,2	MCF-7	breast:
2	chr21:47299971..47300594-chr21:47342907..47343695,3	MCF-7	breast:
3	chr21:47338875..47340965-chr21:47341117..47343595,2	K562	blood:
4	chr21:47336465..47338261-chr21:47339874..47342406,2	K562	blood:
5	chr21:47336284..47339176-chr3:128004670..128006634,2	MCF-7	breast:
6	chr21:47300090..47300627-chr21:47342032..47342538,2	MCF-7	breast:
7	chr21:46961904..46964259-chr21:47343378..47345048,2	MCF-7	breast:
8	chr21:47300028..47300909-chr21:47342650..47343811,5	MCF-7	breast:
9	chr21:47338168..47340965-chr21:47341072..47342617,2	K562	blood:
10	chr21:46976073..46976581-chr21:47342782..47343760,2	MCF-7	breast:
11	chr21:47338875..47340965-chr21:47341117..47343595,2	K562	blood:
12	chr21:46805769..46807395-chr21:47337287..47339395,2	MCF-7	breast:
13	chr21:47300119..47302715-chr21:47341992..47344397,3	MCF-7	breast:
14	chr21:47267610..47268453-chr21:47342093..47343648,5	MCF-7	breast:
15	chr21:47329285..47331470-chr21:47342066..47344987,2	MCF-7	breast:
16	chr21:47328644..47331016-chr21:47340908..47343121,3	MCF-7	breast:
17	chr21:47242790..47243479-chr21:47342941..47343666,2	MCF-7	breast:
18	chr21:46960880..46963479-chr21:47338437..47340205,2	MCF-7	breast:
19	chr21:47342692..47343850-chr21:47390349..47391235,3	MCF-7	breast:
20	chr21:47267694..47268408-chr21:47342147..47343416,5	MCF-7	breast:
21	chr21:47338168..47340965-chr21:47341072..47342617,2	K562	blood:
22	chr21:47286434..47288542-chr21:47340592..47343360,3	MCF-7	breast:
23	chr21:47188474..47189148-chr21:47343010..47343629,2	MCF-7	breast:
24	chr21:47240289..47241171-chr21:47342639..47343656,4	MCF-7	breast:
25	chr21:47240324..47241096-chr21:47342788..47343697,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173638	chromatin interactions
ENSG00000183570	chromatin interactions

Extended variants
information (count: 361 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7278032	chr21:47338723-47338724	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs28617362	chr21:47338724-47338725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547282534	chr21:47338725-47338726	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs8134757	chr21:47338726-47338727	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2776397	chr21:47338745-47338746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs371867821	chr21:47338746-47338747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555078540	chr21:47338771-47338772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370913939	chr21:47338772-47338773	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs116217413	chr21:47338773-47338774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs56596243	chr21:47338794-47338795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73384420	chr21:47338803-47338804	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113381288	chr21:47338807-47338808	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs402355	chr21:47338819-47338820	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534636080	chr21:47338823-47338824	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375971	chr21:47338854-47338855	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577900375	chr21:47338859-47338860	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs8129869	chr21:47338871-47338872	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185301600	chr21:47338874-47338875	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549691943	chr21:47338879-47338880	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564560010	chr21:47338880-47338881	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576617293	chr21:47338888-47338889	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs13049617	chr21:47338892-47338893	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs8126499	chr21:47338898-47338899	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs190232585	chr21:47338903-47338904	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373000740	chr21:47338921-47338922	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541345676	chr21:47338931-47338932	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375281531	chr21:47338994-47338995	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548488973	chr21:47339012-47339013	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533345607	chr21:47339044-47339045	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115643812	chr21:47339045-47339046	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10583021	chr21:47339048-47339049	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs386819377	chr21:47339051-47339052	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs199874809	chr21:47339052-47339053	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569372089	chr21:47339055-47339056	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142066619	chr21:47339065-47339066	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548938421	chr21:47339099-47339100	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535518455	chr21:47339147-47339148	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371027620	chr21:47339155-47339156	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs375990319	chr21:47339178-47339179	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567168418	chr21:47339184-47339185	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs382195	chr21:47339222-47339223	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566042647	chr21:47339248-47339249	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552974292	chr21:47339341-47339342	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs452332	chr21:47339368-47339369	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182143224	chr21:47339393-47339394	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs187220779	chr21:47339397-47339398	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs576576090	chr21:47339403-47339404	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543566192	chr21:47339434-47339435	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs555863990	chr21:47339523-47339524	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs376324751	chr21:47339535-47339536	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47308000-47343000	Weak transcription	Right Atrium	heart
2	chr21:47330800-47342200	Weak transcription	Brain Hippocampus Middle	brain
3	chr21:47333600-47351600	Weak transcription	Gastric	stomach
4	chr21:47333800-47338800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:47334400-47340000	Weak transcription	Thymus	Thymus
6	chr21:47336400-47341800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr21:47336400-47341800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr21:47336400-47341800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr21:47336800-47339600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:47336800-47342600	Weak transcription	Fetal Thymus	thymus
11	chr21:47337000-47339200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr21:47337400-47340600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr21:47337400-47341800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr21:47337600-47339000	Weak transcription	Placenta	Placenta
15	chr21:47338000-47339000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:47338200-47338800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:47338200-47339000	Weak transcription	Spleen	Spleen
18	chr21:47338800-47339200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr21:47338800-47340200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:47339000-47339400	Enhancers	Placenta	Placenta
21	chr21:47339000-47339800	Enhancers	Spleen	Spleen
22	chr21:47339000-47340800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr21:47339200-47340800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:47339400-47339600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr21:47339600-47340800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr21:47339600-47343600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr21:47339800-47343000	Weak transcription	Spleen	Spleen
28	chr21:47340000-47354800	Weak transcription	Primary T cells from cord blood	blood
29	chr21:47340200-47342600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:47340600-47340800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:47340600-47340800	Enhancers	Fetal Muscle Leg	muscle
32	chr21:47340600-47342200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr21:47340800-47342600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr21:47340800-47342800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr21:47340800-47343000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr21:47341000-47341800	Weak transcription	Fetal Muscle Leg	muscle
37	chr21:47341000-47342600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:47341800-47342200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr21:47341800-47342800	Enhancers	NHLF	lung
40	chr21:47341800-47343200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr21:47341800-47343600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr21:47341800-47343600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr21:47341800-47343600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr21:47341800-47343600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr21:47341800-47343600	Enhancers	Fetal Muscle Leg	muscle
46	chr21:47342200-47342400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr21:47342200-47342600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr21:47342200-47343600	Enhancers	Brain Hippocampus Middle	brain
49	chr21:47342400-47342600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr21:47342400-47343600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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