Variant report

Variant	esv3421691
Chromosome Location	chr21:44917724-44922022
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:34)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44829086..44831055-chr21:44919731..44921283,2	MCF-7	breast:
2	chr21:44897939..44900290-chr21:44918989..44921699,3	MCF-7	breast:
3	chr21:44761951..44764235-chr21:44919017..44921465,2	MCF-7	breast:
4	chr21:44921368..44924972-chr21:45021207..45026616,5	MCF-7	breast:
5	chr21:44692899..44694437-chr21:44921106..44922799,2	MCF-7	breast:
6	chr21:44919342..44924591-chr21:45027154..45033706,9	MCF-7	breast:
7	chr21:44920968..44924573-chr21:44951870..44954060,3	MCF-7	breast:
8	chr21:44921707..44923591-chr21:44997193..44999176,2	MCF-7	breast:
9	chr21:44861251..44863206-chr21:44921382..44923569,3	MCF-7	breast:
10	chr17:56707840..56709366-chr21:44921040..44922690,2	MCF-7	breast:
11	chr21:44920414..44926751-chr21:45027970..45034874,9	MCF-7	breast:
12	chr21:44903235..44910338-chr21:44918042..44927375,22	MCF-7	breast:
13	chr21:44887407..44890768-chr21:44921075..44924362,4	MCF-7	breast:
14	chr21:44870566..44873425-chr21:44917940..44920112,2	MCF-7	breast:
15	chr21:44760657..44765448-chr21:44921066..44925837,8	MCF-7	breast:
16	chr21:44913569..44916959-chr21:44917497..44921169,3	K562	blood:
17	chr21:44832201..44834588-chr21:44921157..44924539,3	MCF-7	breast:
18	chr21:44856303..44862867-chr21:44920773..44925316,7	MCF-7	breast:
19	chr21:44839464..44839982-chr21:44921993..44922584,2	MCF-7	breast:
20	chr21:44913569..44915702-chr21:44918905..44920435,2	K562	blood:
21	chr21:44866574..44868384-chr21:44921844..44924261,3	MCF-7	breast:
22	chr21:44921737..44923548-chr21:45008826..45011087,2	MCF-7	breast:
23	chr21:44816577..44818523-chr21:44921676..44924469,3	MCF-7	breast:
24	chr21:44920707..44922734-chr21:45061879..45063396,2	MCF-7	breast:
25	chr21:44823778..44826577-chr21:44921300..44923032,2	MCF-7	breast:
26	chr21:44920448..44924375-chr21:45064080..45067016,3	MCF-7	breast:
27	chr21:44897899..44899872-chr21:44921626..44924260,2	MCF-7	breast:
28	chr21:44841823..44851058-chr21:44912330..44925700,37	MCF-7	breast:
29	chr21:44903994..44910512-chr21:44911444..44917945,16	MCF-7	breast:
30	chr21:44596910..44599943-chr21:44921245..44924609,4	MCF-7	breast:
31	chr21:44839515..44855046-chr21:44918803..44938582,70	MCF-7	breast:
32	chr21:44920665..44924347-chr21:45008352..45010476,3	MCF-7	breast:
33	chr21:44818100..44821352-chr21:44920857..44923649,3	MCF-7	breast:
34	chr21:44565939..44568730-chr21:44921518..44923783,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSF2BP-1	chr21:44920484-44921147	NONHSAT082436

No data

Variant related genes	Relation type
ENSG00000185186	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000142178	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:194 , 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	rs142656219	chr21:44917770-44917771	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551585786	chr21:44917774-44917775	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570089606	chr21:44917800-44917801	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376272719	chr21:44917816-44917817	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530901267	chr21:44917817-44917818	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146918022	chr21:44917869-44917870	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147983068	chr21:44917887-44917888	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs58970088	chr21:44917888-44917889	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs58715187	chr21:44917889-44917890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535004671	chr21:44917893-44917894	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553604951	chr21:44917898-44917899	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141650016	chr21:44917929-44917930	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73906593	chr21:44917996-44917997	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557264103	chr21:44918006-44918007	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150534755	chr21:44918007-44918008	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559561920	chr21:44918075-44918076	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34543789	chr21:44918115-44918116	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189212708	chr21:44918180-44918181	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555436859	chr21:44918198-44918199	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73906594	chr21:44918217-44918218	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541357178	chr21:44918238-44918239	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549893204	chr21:44918254-44918255	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559551254	chr21:44918271-44918272	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs202073765	chr21:44918273-44918274	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs532989352	chr21:44918303-44918304	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545227674	chr21:44918321-44918322	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540487882	chr21:44918365-44918366	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370099488	chr21:44918373-44918374	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs9975774	chr21:44918396-44918397	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549034191	chr21:44918424-44918425	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181146462	chr21:44918513-44918514	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528424464	chr21:44918546-44918547	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568496935	chr21:44918549-44918550	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs146247573	chr21:44918550-44918551	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541564950	chr21:44918565-44918566	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374626767	chr21:44918601-44918602	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs230645	chr21:44918607-44918608	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs185793885	chr21:44918618-44918619	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557560195	chr21:44918671-44918672	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569458072	chr21:44918712-44918713	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs537158924	chr21:44918771-44918772	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs230646	chr21:44918788-44918789	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs190365536	chr21:44918848-44918849	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs113828723	chr21:44918874-44918875	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540980310	chr21:44918958-44918959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552682319	chr21:44919004-44919005	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs565992319	chr21:44919016-44919017	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs577913893	chr21:44919051-44919052	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs139380174	chr21:44919059-44919060	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs563516409	chr21:44919076-44919077	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	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 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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:239 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44912800-44918400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr21:44914000-44918000	Weak transcription	Right Atrium	heart
3	chr21:44914600-44918000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:44914600-44918000	Weak transcription	Adipose Nuclei	Adipose
5	chr21:44914600-44921800	Weak transcription	Colonic Mucosa	Colon
6	chr21:44914600-44921800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr21:44914600-44922200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:44914800-44918200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr21:44914800-44922000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr21:44915000-44918000	Weak transcription	Brain Anterior Caudate	brain
11	chr21:44915000-44918200	Weak transcription	Liver	Liver
12	chr21:44915000-44918600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr21:44915000-44919600	Weak transcription	Esophagus	oesophagus
14	chr21:44915000-44921800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:44915000-44921800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr21:44915000-44922000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr21:44915000-44922400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:44915000-44922400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr21:44915200-44917800	Weak transcription	Lung	lung
20	chr21:44915200-44917800	Weak transcription	Right Ventricle	heart
21	chr21:44915200-44917800	Weak transcription	HUVEC	blood vessel
22	chr21:44915200-44918200	Weak transcription	Brain Angular Gyrus	brain
23	chr21:44915400-44917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:44915400-44917800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr21:44915400-44917800	Enhancers	Hela-S3	cervix
26	chr21:44915400-44918000	Weak transcription	Gastric	stomach
27	chr21:44915400-44922200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr21:44915600-44917800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr21:44915600-44917800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr21:44915600-44918000	Weak transcription	Psoas Muscle	Psoas
31	chr21:44915600-44918200	Weak transcription	Stomach Mucosa	stomach
32	chr21:44915600-44918400	Enhancers	HSMM	muscle
33	chr21:44915800-44917800	Weak transcription	Placenta	Placenta
34	chr21:44916400-44917800	Weak transcription	HepG2	liver
35	chr21:44916800-44920600	Enhancers	Fetal Muscle Leg	muscle
36	chr21:44916800-44921000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr21:44916800-44921200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr21:44916800-44924200	Enhancers	HMEC	breast
39	chr21:44917000-44917800	Enhancers	NHDF-Ad	bronchial
40	chr21:44917000-44919000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr21:44917000-44919200	Enhancers	NH-A	brain
42	chr21:44917200-44918200	Enhancers	Osteobl	bone
43	chr21:44917200-44918600	Enhancers	A549	lung
44	chr21:44917200-44919400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr21:44917200-44921200	Enhancers	NHEK	skin
46	chr21:44917400-44918200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr21:44917400-44918400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr21:44917400-44918400	Enhancers	HSMMtube	muscle
49	chr21:44917400-44918800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr21:44917400-44919000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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