Variant report

Variant	esv3338276
Chromosome Location	chr21:47655324-47660422
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:10)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47656850..47659762-chr21:47704126..47706741,2	MCF-7	breast:
2	chr21:47646929..47655402-chr21:47657205..47667464,13	MCF-7	breast:
3	chr21:47659502..47662690-chr21:47662818..47666456,4	MCF-7	breast:
4	chr21:47653995..47656077-chr21:47743565..47746155,2	K562	blood:
5	chr21:47646929..47655402-chr21:47657205..47667464,13	MCF-7	breast:
6	chr21:47656174..47658800-chr21:47703539..47705837,2	K562	blood:
7	chr21:47656119..47658355-chr21:47680181..47682317,2	K562	blood:
8	chr21:47657506..47660232-chr21:47695558..47697140,2	K562	blood:
9	chr21:47657327..47659705-chr21:47698553..47700313,2	K562	blood:
10	chr21:47658234..47660553-chr21:47703844..47705834,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YBEY-2	chr21:47654425-47655367	ENSG00000215424
2	lnc-YBEY-2	chr21:47656138-47656240	ENSG00000215424
3	lnc-YBEY-2	chr21:47656137-47656240	NONHSAT083046

No data

Variant related genes	Relation type
ENSG00000160285	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000228137	chromatin interactions
ENSG00000215424	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000182362	chromatin interactions

Extended variants
information (count: 184 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201946782	chr21:47655327-47655328	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs371635864	chr21:47655332-47655333	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs373865756	chr21:47655346-47655347	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs199830023	chr21:47655354-47655355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs367676898	chr21:47655368-47655369	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs73144767	chr21:47655378-47655379	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564371555	chr21:47655387-47655388	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs183310469	chr21:47655398-47655399	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs373644224	chr21:47655460-47655461	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs373084714	chr21:47655484-47655485	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs2839165	chr21:47655541-47655542	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs16979004	chr21:47655562-47655563	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs536391100	chr21:47655604-47655605	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs548657626	chr21:47655605-47655606	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs369373208	chr21:47655619-47655620	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs193201708	chr21:47655628-47655629	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs534153741	chr21:47655645-47655646	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs373312504	chr21:47655651-47655652	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs146961898	chr21:47655683-47655684	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs137968446	chr21:47655688-47655689	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs538517315	chr21:47655764-47655765	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs558742537	chr21:47655771-47655772	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs574736593	chr21:47655827-47655828	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs142169938	chr21:47655869-47655870	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs541564818	chr21:47655870-47655871	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs560154090	chr21:47655879-47655880	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs185132203	chr21:47655911-47655912	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs567565974	chr21:47655936-47655937	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs77083917	chr21:47656084-47656085	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17177002	chr21:47656128-47656129	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs143128284	chr21:47656177-47656178	Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs370735438	chr21:47656198-47656199	Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs575023748	chr21:47656204-47656205	Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs561596868	chr21:47656257-47656258	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200761316	chr21:47656294-47656295	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11379216	chr21:47656296-47656297	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs34733373	chr21:47656298-47656299	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529036506	chr21:47656342-47656343	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549329419	chr21:47656388-47656389	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189205532	chr21:47656427-47656428	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs17176988	chr21:47656461-47656462	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs148282864	chr21:47656468-47656469	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552569623	chr21:47656494-47656495	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs192459628	chr21:47656502-47656503	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs538577772	chr21:47656513-47656514	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376385430	chr21:47656529-47656530	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543826489	chr21:47656548-47656549	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs141331242	chr21:47656549-47656550	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536013812	chr21:47656575-47656576	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553608466	chr21:47656586-47656587	Strong transcription Weak transcription	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:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47649800-47701600	Weak transcription	Right Atrium	heart
2	chr21:47650000-47658600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:47650000-47658600	Weak transcription	Small Intestine	intestine
4	chr21:47650000-47705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr21:47650200-47667000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr21:47650400-47658800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:47650600-47656800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr21:47650600-47669800	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr21:47650800-47656600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:47650800-47701000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:47650800-47701400	Strong transcription	Fetal Muscle Leg	muscle
12	chr21:47650800-47701600	Strong transcription	Fetal Stomach	stomach
13	chr21:47651000-47656800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr21:47651000-47656800	Strong transcription	NHEK	skin
15	chr21:47651000-47703200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:47651200-47656800	Strong transcription	A549	lung
17	chr21:47651200-47657200	Strong transcription	HMEC	breast
18	chr21:47651200-47657400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr21:47651200-47657400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr21:47651200-47701400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:47651400-47656800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr21:47651400-47657000	Strong transcription	NH-A	brain
23	chr21:47651600-47657800	Strong transcription	Fetal Intestine Large	intestine
24	chr21:47651600-47670400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:47651600-47673000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:47651600-47679000	Strong transcription	HSMM	muscle
27	chr21:47651600-47703000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:47651600-47703200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr21:47651800-47655800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:47651800-47656600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr21:47651800-47656800	Strong transcription	Primary T cells from cord blood	blood
32	chr21:47651800-47656800	Strong transcription	Primary hematopoietic stem cells	blood
33	chr21:47651800-47657000	Strong transcription	NHDF-Ad	bronchial
34	chr21:47651800-47657200	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr21:47651800-47657600	Strong transcription	Ovary	ovary
36	chr21:47651800-47657600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr21:47651800-47657800	Strong transcription	Brain Hippocampus Middle	brain
38	chr21:47651800-47657800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr21:47651800-47657800	Strong transcription	Left Ventricle	heart
40	chr21:47651800-47666800	Strong transcription	Fetal Lung	lung
41	chr21:47651800-47681000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr21:47651800-47701400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:47651800-47702600	Strong transcription	Osteobl	bone
44	chr21:47652000-47656400	Strong transcription	Lung	lung
45	chr21:47652000-47656600	Strong transcription	Brain Germinal Matrix	brain
46	chr21:47652000-47656800	Strong transcription	Thymus	Thymus
47	chr21:47652000-47657000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr21:47652000-47657800	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr21:47652000-47668000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr21:47652000-47701000	Strong transcription	Duodenum Mucosa	Duodenum

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