Variant report

Variant	esv3438911
Chromosome Location	chr21:47352192-47352929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr21:47352145-47352368	GM12878	blood:	n/a	n/a
2	BATF	chr21:47351394-47353246	GM12878	blood:	n/a	n/a
3	BATF	chr21:47352721-47353066	GM12878	blood:	n/a	n/a
4	CTCF	chr21:47352739-47352811	GM13976	blood:	n/a	n/a
5	IRF4	chr21:47352633-47353090	GM12878	blood:	n/a	n/a
6	IRF4	chr21:47352025-47352448	GM12878	blood:	n/a	n/a
7	IRF4	chr21:47351400-47353143	GM12878	blood:	n/a	n/a
8	MYC	chr21:47352228-47352309	K562	blood:	n/a	n/a
9	MYC	chr21:47352427-47352484	MCF-7	breast:	n/a	n/a
10	MYC	chr21:47352338-47352352	K562	blood:	n/a	n/a
11	MYC	chr21:47352694-47352743	MCF-7	breast:	n/a	n/a
12	MYC	chr21:47352156-47352346	GM12878	blood:	n/a	n/a
13	MYC	chr21:47352690-47352770	MCF-7	breast:	n/a	n/a
14	MYC	chr21:47352699-47352745	MCF-7	breast:	n/a	n/a
15	PAX5	chr21:47351450-47352921	GM12878	blood:	n/a	n/a
16	POLR2A	chr21:47352820-47352839	ProgFib	skin:	n/a	n/a
17	POLR2A	chr21:47352193-47352359	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr21:47352505-47352560	MCF-7	breast:	n/a	n/a
19	POLR2A	chr21:47352120-47352231	ProgFib	skin:	n/a	n/a
20	POLR2A	chr21:47352443-47352798	MCF-7	breast:	n/a	n/a
21	POLR2A	chr21:47352901-47352957	ProgFib	skin:	n/a	n/a
22	POLR2A	chr21:47352074-47352358	MCF-7	breast:	n/a	n/a
23	POLR2A	chr21:47352016-47352213	MCF-7	breast:	n/a	n/a
24	POLR2A	chr21:47352597-47352799	MCF-7	breast:	n/a	n/a
25	POLR2A	chr21:47352380-47352420	MCF-7	breast:	n/a	n/a
26	TCF12	chr21:47352602-47353201	GM12878	blood:	n/a	n/a
27	TCF12	chr21:47351566-47352542	GM12878	blood:	n/a	n/a
28	TCF12	chr21:47351549-47353274	GM12878	blood:	n/a	n/a
29	TCF3	chr21:47352366-47352853	GM12878	blood:	n/a	n/a
30	TCF3	chr21:47352923-47353157	GM12878	blood:	n/a	n/a
31	TCF3	chr21:47351494-47352245	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47349796..47352014-chr21:47352691..47354438,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268040	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545994029	chr21:47352193-47352194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562851499	chr21:47352216-47352217	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56021653	chr21:47352221-47352222	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2843979	chr21:47352281-47352282	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530153377	chr21:47352287-47352288	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542151491	chr21:47352312-47352313	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372936742	chr21:47352328-47352329	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560885877	chr21:47352334-47352335	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527832781	chr21:47352341-47352342	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552744986	chr21:47352343-47352344	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563988936	chr21:47352352-47352353	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531326687	chr21:47352362-47352363	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549493357	chr21:47352366-47352367	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7277199	chr21:47352417-47352418	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535119473	chr21:47352423-47352424	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193057489	chr21:47352439-47352440	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532049570	chr21:47352440-47352441	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547330290	chr21:47352448-47352449	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565974555	chr21:47352449-47352450	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539224581	chr21:47352461-47352462	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557954635	chr21:47352462-47352463	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576336269	chr21:47352463-47352464	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199901473	chr21:47352470-47352471	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538330105	chr21:47352473-47352474	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556738346	chr21:47352494-47352495	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs550280235	chr21:47352501-47352502	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs184616835	chr21:47352508-47352509	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs368632538	chr21:47352532-47352533	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs384068	chr21:47352535-47352536	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560580698	chr21:47352539-47352540	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs78518892	chr21:47352545-47352546	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs114163751	chr21:47352547-47352548	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs2776400	chr21:47352568-47352569	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs56271290	chr21:47352625-47352626	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs2776401	chr21:47352663-47352664	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs531819824	chr21:47352704-47352705	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs549454728	chr21:47352705-47352706	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs191934401	chr21:47352710-47352711	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs146214597	chr21:47352711-47352712	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs547385672	chr21:47352718-47352719	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs565808321	chr21:47352749-47352750	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs539700400	chr21:47352769-47352770	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs4819170	chr21:47352788-47352789	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs569858521	chr21:47352800-47352801	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs372147495	chr21:47352801-47352802	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs556646420	chr21:47352809-47352810	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs574993595	chr21:47352876-47352877	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs535445272	chr21:47352897-47352898	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs369604400	chr21:47352910-47352911	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs566572709	chr21:47352919-47352920	Weak transcription ZNF genes & repeats	TF binding region	1 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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47340000-47354800	Weak transcription	Primary T cells from cord blood	blood
2	chr21:47343400-47353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:47343600-47353600	Weak transcription	Brain Hippocampus Middle	brain
4	chr21:47343600-47354600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:47349600-47354600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr21:47350400-47352600	Strong transcription	Spleen	Spleen
7	chr21:47351200-47352200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr21:47351400-47354400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:47351600-47354600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr21:47352200-47353200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:47352600-47353800	Weak transcription	Spleen	Spleen

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