Variant report

Variant	esv3491909
Chromosome Location	chr21:47609684-47610927
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47608474..47611132-chr21:47627898..47630715,3	MCF-7	breast:
2	chr21:47608042..47610430-chr21:47629294..47631017,3	MCF-7	breast:
3	chr21:47601884..47606848-chr21:47606938..47611467,11	MCF-7	breast:
4	chr21:47603298..47606134-chr21:47609702..47612291,3	MCF-7	breast:
5	chr21:47572801..47575123-chr21:47608249..47610070,2	MCF-7	breast:
6	chr21:47608421..47610045-chr21:47610316..47614035,3	K562	blood:
7	chr21:47605676..47611866-chr21:47647121..47650700,5	K562	blood:
8	chr21:47571793..47574970-chr21:47606794..47610224,4	MCF-7	breast:
9	chr21:47608276..47610056-chr21:47614112..47615724,2	K562	blood:
10	chr21:47609974..47612324-chr21:47641874..47644761,2	MCF-7	breast:
11	chr21:47610337..47611889-chr21:47614525..47616079,2	K562	blood:
12	chr21:47609774..47611316-chr21:47673784..47676392,2	MCF-7	breast:
13	chr21:47609281..47613722-chr21:47615252..47618849,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160285	chromatin interactions
ENSG00000215424	chromatin interactions
ENSG00000160284	chromatin interactions
ENSG00000235878	chromatin interactions
ENSG00000239415	chromatin interactions
ENSG00000228404	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559827615	chr21:47609692-47609693	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs877746	chr21:47609731-47609732	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs551793213	chr21:47609814-47609815	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs569910734	chr21:47609830-47609831	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs138996335	chr21:47609847-47609848	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs549668423	chr21:47609861-47609862	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs567873744	chr21:47609918-47609919	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs180706255	chr21:47609922-47609923	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs553266758	chr21:47609923-47609924	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs571368251	chr21:47609948-47609949	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs117378205	chr21:47609974-47609975	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs556924268	chr21:47609980-47609981	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs150935428	chr21:47609989-47609990	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs575082042	chr21:47610008-47610009	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs542530542	chr21:47610011-47610012	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs554478433	chr21:47610017-47610018	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs572779568	chr21:47610056-47610057	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs2330408	chr21:47610066-47610067	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs564924956	chr21:47610067-47610068	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs533478542	chr21:47610081-47610082	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs76747080	chr21:47610099-47610100	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs534593626	chr21:47610102-47610103	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs562616610	chr21:47610136-47610137	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs185711203	chr21:47610168-47610169	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs560451665	chr21:47610171-47610172	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs76877696	chr21:47610185-47610186	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs549381449	chr21:47610192-47610193	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs190227570	chr21:47610202-47610203	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs528789661	chr21:47610246-47610247	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs142360115	chr21:47610247-47610248	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs201035928	chr21:47610269-47610270	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs144604126	chr21:47610271-47610272	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs201620888	chr21:47610285-47610286	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs376297675	chr21:47610298-47610299	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs538728926	chr21:47610338-47610339	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs543486117	chr21:47610443-47610444	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs573891988	chr21:47610447-47610448	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs535872922	chr21:47610454-47610455	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs115472802	chr21:47610502-47610503	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs138555584	chr21:47610507-47610508	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs149267995	chr21:47610518-47610519	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs558722743	chr21:47610526-47610527	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs536657412	chr21:47610648-47610649	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs576936359	chr21:47610669-47610670	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs545501599	chr21:47610721-47610722	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs563663742	chr21:47610749-47610750	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs575784881	chr21:47610752-47610753	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs543088597	chr21:47610765-47610766	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs183600339	chr21:47610779-47610780	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs528804124	chr21:47610793-47610794	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 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:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47605000-47610600	Weak transcription	Colon Smooth Muscle	Colon
2	chr21:47605000-47611600	Weak transcription	Small Intestine	intestine
3	chr21:47605000-47613600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr21:47605000-47613600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr21:47605000-47633200	Weak transcription	Stomach Mucosa	stomach
6	chr21:47605200-47610800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr21:47605200-47613200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr21:47605200-47646200	Weak transcription	Psoas Muscle	Psoas
9	chr21:47605400-47610200	Weak transcription	Fetal Intestine Large	intestine
10	chr21:47605400-47611000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr21:47605400-47613400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr21:47605400-47613600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr21:47605400-47625600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr21:47605400-47646200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr21:47605400-47646200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr21:47605600-47610400	Weak transcription	Fetal Thymus	thymus
17	chr21:47605600-47610800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr21:47605600-47610800	Weak transcription	Thymus	Thymus
19	chr21:47605600-47611200	Weak transcription	Fetal Lung	lung
20	chr21:47605600-47611600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr21:47605600-47612000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr21:47605600-47612600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr21:47605600-47613400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:47605600-47613600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr21:47605800-47610800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr21:47605800-47612400	Weak transcription	Primary B cells from cord blood	blood
27	chr21:47605800-47613600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr21:47605800-47613600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr21:47605800-47621000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr21:47606000-47611000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr21:47606000-47613600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr21:47606200-47611200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr21:47606200-47612400	Weak transcription	Fetal Brain Male	brain
34	chr21:47606600-47639800	Strong transcription	Fetal Brain Female	brain
35	chr21:47607200-47610800	Enhancers	Left Ventricle	heart
36	chr21:47607200-47611000	Enhancers	Right Atrium	heart
37	chr21:47607200-47611600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr21:47607400-47609800	Enhancers	Brain Angular Gyrus	brain
39	chr21:47607400-47645200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr21:47607400-47646200	Strong transcription	Fetal Stomach	stomach
41	chr21:47607600-47610000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr21:47607600-47610200	Enhancers	Brain Anterior Caudate	brain
43	chr21:47607600-47611800	Genic enhancers	NHDF-Ad	bronchial
44	chr21:47607600-47612000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr21:47607600-47617000	Strong transcription	Brain Germinal Matrix	brain
46	chr21:47607800-47609800	Enhancers	Fetal Heart	heart
47	chr21:47607800-47611800	Genic enhancers	Muscle Satellite Cultured Cells	--
48	chr21:47607800-47612200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr21:47607800-47621000	Strong transcription	Liver	Liver
50	chr21:47608000-47609800	Enhancers	NH-A	brain

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