Variant report

Variant	esv2421785
Chromosome Location	chr21:40734723-40737012
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40720107..40722634-chr21:40734285..40737035,2	K562	blood:
2	chr21:40734249..40737056-chr21:40740418..40743217,2	K562	blood:
3	chr21:40685768..40688318-chr21:40736102..40738778,3	MCF-7	breast:
4	chr21:40723013..40725443-chr21:40734759..40737536,2	K562	blood:
5	chr21:40736966..40739298-chr21:40749576..40752274,3	MCF-7	breast:
6	chr21:40721702..40724513-chr21:40734759..40737368,2	K562	blood:
7	chr21:40730002..40733257-chr21:40733422..40737177,3	K562	blood:
8	chr21:40683276..40686079-chr21:40732739..40735690,3	MCF-7	breast:
9	chr21:40718884..40721288-chr21:40733126..40735648,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185658	chromatin interactions
ENSG00000238141	chromatin interactions
ENSG00000182093	chromatin interactions
ENSG00000255568	chromatin interactions
ENSG00000205581	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2836991	chr21:40734723-40734724	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11702845	chr21:40734733-40734734	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs551417532	chr21:40734747-40734748	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs184076691	chr21:40734807-40734808	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527281214	chr21:40734815-40734816	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs547805287	chr21:40734838-40734839	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs149872054	chr21:40734848-40734849	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs58820630	chr21:40734864-40734865	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs141443283	chr21:40734890-40734891	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs397938342	chr21:40734892-40734893	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143903613	chr21:40734911-40734912	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs529989068	chr21:40734985-40734986	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs538787225	chr21:40734989-40734990	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs559005249	chr21:40735038-40735039	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs572376310	chr21:40735044-40735045	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs71330363	chr21:40735065-40735066	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs148582794	chr21:40735066-40735067	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs142979874	chr21:40735067-40735068	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562475659	chr21:40735069-40735070	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs574006271	chr21:40735090-40735091	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs542898478	chr21:40735112-40735113	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs570005138	chr21:40735155-40735156	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs529652539	chr21:40735157-40735158	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562683409	chr21:40735217-40735218	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs111513580	chr21:40735236-40735237	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs564975120	chr21:40735256-40735257	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs566606497	chr21:40735265-40735266	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs113290482	chr21:40735269-40735270	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs560498607	chr21:40735289-40735290	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs189977620	chr21:40735295-40735296	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs552432439	chr21:40735298-40735299	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs141360642	chr21:40735319-40735320	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs77027567	chr21:40735325-40735326	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs74773268	chr21:40735339-40735340	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs372049263	chr21:40735367-40735368	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs13046235	chr21:40735368-40735369	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs73364011	chr21:40735392-40735393	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs111744733	chr21:40735439-40735440	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs73364012	chr21:40735449-40735450	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566180790	chr21:40735472-40735473	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs534781709	chr21:40735586-40735587	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs200021199	chr21:40735601-40735602	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs2836992	chr21:40735606-40735607	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs574846741	chr21:40735609-40735610	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs61593177	chr21:40735636-40735637	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs143659012	chr21:40735672-40735673	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs146809860	chr21:40735730-40735731	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545176446	chr21:40735740-40735741	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564900168	chr21:40735867-40735868	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11909643	chr21:40735871-40735872	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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 myeloid leukemia	20729466	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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40731000-40734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr21:40731600-40734800	Weak transcription	K562	blood
3	chr21:40734000-40735000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr21:40734000-40735000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr21:40734000-40736600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr21:40734000-40736800	Enhancers	Primary hematopoietic stem cells	blood
7	chr21:40734000-40737400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:40734200-40734800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr21:40734400-40734800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:40734400-40737800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:40734600-40735000	Bivalent Enhancer	Primary B cells from cord blood	blood
12	chr21:40734800-40735000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:40734800-40735400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr21:40734800-40735600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:40734800-40736600	Enhancers	K562	blood
16	chr21:40734800-40738200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr21:40735000-40735400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr21:40735400-40735800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr21:40735400-40735800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:40735400-40736400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:40735600-40735800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr21:40735600-40736000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr21:40735600-40736200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr21:40735600-40737000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr21:40735800-40736800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr21:40736000-40737000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:40736600-40741600	Weak transcription	K562	blood
28	chr21:40736800-40741800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr21:40737000-40741200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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