Variant report

Variant	esv1805861
Chromosome Location	chr21:45238052-45240140
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45238343..45240639-chr21:45244780..45247104,2	MCF-7	breast:
2	chr21:45238190..45239894-chr21:45283911..45285576,2	MCF-7	breast:
3	chr21:45192905..45195528-chr21:45235425..45238416,2	MCF-7	breast:
4	chr21:45236743..45238556-chr21:45284722..45286345,2	MCF-7	breast:
5	chr21:45238123..45243699-chr21:45249780..45254219,5	K562	blood:
6	chr21:45237201..45239998-chr21:45352077..45354787,2	K562	blood:
7	chr21:45240125..45242679-chr21:45283332..45285060,2	MCF-7	breast:
8	chr21:45230202..45231969-chr21:45236707..45239861,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160216	chromatin interactions
ENSG00000215458	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545418176	chr21:45238060-45238061	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs374232531	chr21:45238068-45238069	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs368953523	chr21:45238089-45238090	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs544377497	chr21:45238093-45238094	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562981997	chr21:45238094-45238095	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs574957067	chr21:45238100-45238101	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs397867850	chr21:45238104-45238105	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs541883486	chr21:45238137-45238138	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs560519943	chr21:45238144-45238145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs193158266	chr21:45238147-45238148	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs58118582	chr21:45238153-45238154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs546473344	chr21:45238236-45238237	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs72039354	chr21:45238261-45238262	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs35059206	chr21:45238278-45238279	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs375169913	chr21:45238279-45238280	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369398065	chr21:45238281-45238282	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs372411982	chr21:45238339-45238340	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs1136072	chr21:45238353-45238354	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs563158963	chr21:45238358-45238359	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs530451630	chr21:45238379-45238380	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs11702756	chr21:45238386-45238387	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs1136073	chr21:45238389-45238390	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs117470729	chr21:45238418-45238419	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs11702249	chr21:45238426-45238427	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs76090005	chr21:45238434-45238435	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs533890827	chr21:45238472-45238473	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs558819771	chr21:45238473-45238474	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs555887167	chr21:45238487-45238488	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs538059234	chr21:45238537-45238538	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs183858780	chr21:45238541-45238542	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs73906638	chr21:45238577-45238578	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs144047451	chr21:45238594-45238595	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs553925309	chr21:45238600-45238601	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs1058537	chr21:45238629-45238630	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs1136075	chr21:45238637-45238638	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552226746	chr21:45238647-45238648	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs139417210	chr21:45238676-45238677	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs192263870	chr21:45238678-45238679	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs531856661	chr21:45238703-45238704	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs112969714	chr21:45238721-45238722	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs141620723	chr21:45238799-45238800	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs11701798	chr21:45238802-45238803	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs139966020	chr21:45238846-45238847	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs548267067	chr21:45238864-45238865	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs183729814	chr21:45238899-45238900	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs527292206	chr21:45238945-45238946	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs551854571	chr21:45238965-45238966	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs150517041	chr21:45239027-45239028	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs538120712	chr21:45239053-45239054	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs569262247	chr21:45239056-45239057	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Prostate cancer	18632612	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
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45211000-45257200	Weak transcription	Right Atrium	heart
2	chr21:45224800-45238400	Weak transcription	Aorta	Aorta
3	chr21:45232800-45238400	Weak transcription	Brain Substantia Nigra	brain
4	chr21:45232800-45241400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr21:45232800-45244000	Weak transcription	Brain Angular Gyrus	brain
6	chr21:45234800-45245000	Weak transcription	Brain Anterior Caudate	brain
7	chr21:45235000-45238400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr21:45235000-45239000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr21:45235000-45244000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr21:45235400-45238600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr21:45235600-45238400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr21:45236000-45238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr21:45236000-45238200	Weak transcription	K562	blood
14	chr21:45236000-45244200	Weak transcription	Right Ventricle	heart
15	chr21:45236000-45245000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr21:45236200-45238600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr21:45236600-45238200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr21:45237000-45240600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr21:45237200-45238800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr21:45237600-45238400	Weak transcription	Lung	lung
21	chr21:45237800-45238400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:45237800-45238400	Weak transcription	Adipose Nuclei	Adipose
23	chr21:45237800-45238400	Weak transcription	Esophagus	oesophagus
24	chr21:45237800-45238400	Weak transcription	Fetal Muscle Leg	muscle
25	chr21:45237800-45238400	Weak transcription	Spleen	Spleen
26	chr21:45238000-45238400	Weak transcription	GM12878-XiMat	blood
27	chr21:45238000-45238600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr21:45238000-45238600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr21:45238200-45238400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr21:45238200-45239200	Enhancers	K562	blood
31	chr21:45238400-45238600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr21:45238400-45238600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr21:45238400-45238600	Enhancers	Brain Substantia Nigra	brain
34	chr21:45238400-45238600	Enhancers	Lung	lung
35	chr21:45238400-45238600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
36	chr21:45238400-45238600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
37	chr21:45238400-45238600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
38	chr21:45238400-45238800	ZNF genes & repeats	Aorta	Aorta
39	chr21:45238400-45238800	ZNF genes & repeats	Esophagus	oesophagus
40	chr21:45238400-45239000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr21:45238400-45239000	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr21:45238400-45239000	ZNF genes & repeats	GM12878-XiMat	blood
43	chr21:45238400-45239200	ZNF genes & repeats	Fetal Muscle Leg	muscle
44	chr21:45238400-45239200	ZNF genes & repeats	Spleen	Spleen
45	chr21:45238600-45239000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
46	chr21:45238600-45239000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr21:45238800-45239200	Weak transcription	Esophagus	oesophagus
48	chr21:45238800-45240600	Weak transcription	Aorta	Aorta
49	chr21:45239000-45239200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr21:45239200-45239600	Weak transcription	Spleen	Spleen

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