Variant report

Variant	esv3411480
Chromosome Location	chr21:48080974-48083122
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:48069459..48071150-chr21:48080115..48082921,2	MCF-7	breast:
2	chr21:48053543..48058001-chr21:48077675..48082884,7	K562	blood:
3	chr21:48079857..48085039-chr21:48086180..48089656,6	K562	blood:
4	chr21:48052631..48057186-chr21:48078871..48083170,5	MCF-7	breast:
5	chr21:48081818..48084383-chr21:48086010..48087998,2	MCF-7	breast:
6	chr21:48081260..48084193-chr21:48084438..48088004,4	MCF-7	breast:
7	chr21:48069135..48075784-chr21:48076835..48082817,8	MCF-7	breast:
8	chr21:48054236..48058001-chr21:48079083..48082780,4	K562	blood:
9	chr21:48075305..48080605-chr21:48080906..48086226,8	K562	blood:
10	chr21:48076560..48080046-chr21:48082031..48085407,3	MCF-7	breast:
11	chr21:48082813..48085393-chr21:48090322..48091989,3	MCF-7	breast:
12	chr21:48054258..48057073-chr21:48079765..48082823,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160310	chromatin interactions
ENSG00000230982	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184454659	chr21:48081006-48081007	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs559921777	chr21:48081016-48081017	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs187793582	chr21:48081028-48081029	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs573577333	chr21:48081033-48081034	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs192184767	chr21:48081065-48081066	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551952492	chr21:48081104-48081105	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs570537518	chr21:48081113-48081114	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs371692095	chr21:48081115-48081116	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs539192612	chr21:48081213-48081214	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs76674087	chr21:48081215-48081216	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
11	rs569564917	chr21:48081253-48081254	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs563111266	chr21:48081282-48081283	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs536981401	chr21:48081341-48081342	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs555264678	chr21:48081361-48081362	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531911213	chr21:48081366-48081367	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs147686984	chr21:48081403-48081404	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs534205113	chr21:48081438-48081439	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs558731649	chr21:48081463-48081464	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs34781594	chr21:48081479-48081480	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs397781142	chr21:48081480-48081481	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs116888171	chr21:48081490-48081491	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
22	rs373080749	chr21:48081536-48081537	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs562376426	chr21:48081558-48081559	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs149192937	chr21:48081559-48081560	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs377290723	chr21:48081588-48081589	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs541732032	chr21:48081611-48081612	Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560413993	chr21:48081653-48081654	Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs115587551	chr21:48081661-48081662	Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs376459907	chr21:48081665-48081666	Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs564170797	chr21:48081686-48081687	Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs199586203	chr21:48081687-48081688	Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs370903119	chr21:48081707-48081708	Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs143321526	chr21:48081768-48081769	Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs149476373	chr21:48081770-48081771	Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs374352696	chr21:48081771-48081772	Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs143873814	chr21:48081799-48081800	Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs569443694	chr21:48081804-48081805	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs142055128	chr21:48081808-48081809	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs35432892	chr21:48081823-48081824	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs199822008	chr21:48081847-48081848	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs370608389	chr21:48081858-48081859	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs201880048	chr21:48081871-48081872	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs13052691	chr21:48081883-48081884	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs572965696	chr21:48081914-48081915	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs71187326	chr21:48081920-48081921	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs114416646	chr21:48082019-48082020	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs533937254	chr21:48082061-48082062	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs558949736	chr21:48082094-48082095	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs140591621	chr21:48082133-48082134	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs115064648	chr21:48082198-48082199	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 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:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:48056200-48081400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:48060200-48085800	Strong transcription	Placenta	Placenta
3	chr21:48063800-48081400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr21:48069600-48081400	Weak transcription	Psoas Muscle	Psoas
5	chr21:48070600-48086800	Weak transcription	Fetal Heart	heart
6	chr21:48071000-48081600	Weak transcription	Right Atrium	heart
7	chr21:48072000-48081400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:48072000-48081400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:48074000-48081400	Weak transcription	Thymus	Thymus
10	chr21:48074000-48084200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:48074200-48085000	Weak transcription	Stomach Mucosa	stomach
12	chr21:48074800-48087000	Weak transcription	Small Intestine	intestine
13	chr21:48075200-48087400	Weak transcription	Hela-S3	cervix
14	chr21:48075400-48081400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr21:48075400-48081400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr21:48075400-48081400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr21:48075400-48086800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr21:48075600-48081000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:48075600-48081000	Strong transcription	Fetal Muscle Leg	muscle
20	chr21:48075600-48082200	Weak transcription	Colonic Mucosa	Colon
21	chr21:48075600-48086600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr21:48076000-48081200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr21:48076000-48082000	Weak transcription	HMEC	breast
24	chr21:48076000-48087000	Weak transcription	GM12878-XiMat	blood
25	chr21:48076200-48081000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr21:48076200-48081400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:48076600-48086000	Strong transcription	Dnd41	blood
28	chr21:48076800-48087000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr21:48077000-48081000	Strong transcription	Fetal Stomach	stomach
30	chr21:48077200-48081000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr21:48077200-48081400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr21:48077200-48081400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr21:48077200-48081400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr21:48077200-48085800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr21:48077200-48086800	Weak transcription	A549	lung
36	chr21:48077400-48081400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr21:48077400-48081400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr21:48077400-48081400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr21:48077400-48081600	Strong transcription	Spleen	Spleen
40	chr21:48077400-48085600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr21:48077600-48081400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr21:48077600-48086400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr21:48078000-48087400	Weak transcription	Fetal Kidney	kidney
44	chr21:48078400-48083400	Weak transcription	K562	blood
45	chr21:48079000-48081400	Weak transcription	Esophagus	oesophagus
46	chr21:48079000-48081400	Weak transcription	HSMMtube	muscle
47	chr21:48079000-48082200	Weak transcription	Fetal Lung	lung
48	chr21:48079000-48083200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr21:48079200-48081200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr21:48079200-48081200	Weak transcription	Brain Germinal Matrix	brain

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