Variant report

Variant	esv3407312
Chromosome Location	chr21:47498774-47501272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47498636..47500154-chr21:47500293..47503205,2	MCF-7	breast:
2	chr21:47491970..47494495-chr21:47501163..47503528,2	K562	blood:
3	chr21:47498636..47500154-chr21:47500293..47503205,2	MCF-7	breast:
4	chr21:47493601..47495532-chr21:47497650..47499455,2	K562	blood:

Variant related genes	Relation type
ENSG00000233767	chromatin interactions

Extended variants
information (count: 181 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:181 , 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	rs73908507	chr21:47498793-47498794	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115965003	chr21:47498800-47498801	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs147949720	chr21:47498806-47498807	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs531938211	chr21:47498807-47498808	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs531615215	chr21:47498837-47498838	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs548528488	chr21:47498860-47498861	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs552942827	chr21:47498862-47498863	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs141836276	chr21:47498866-47498867	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs545309581	chr21:47498874-47498875	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs190928610	chr21:47498882-47498883	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs113040051	chr21:47498885-47498886	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs79353320	chr21:47498888-47498889	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs575542901	chr21:47498918-47498919	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs570910228	chr21:47498935-47498936	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs543923966	chr21:47498939-47498940	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs114926798	chr21:47498960-47498961	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs79525460	chr21:47499019-47499020	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs541023686	chr21:47499030-47499031	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs183118687	chr21:47499034-47499035	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs533438704	chr21:47499119-47499120	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs143048513	chr21:47499160-47499161	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs569907962	chr21:47499168-47499169	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs531057707	chr21:47499189-47499190	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs73908508	chr21:47499238-47499239	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs62213133	chr21:47499242-47499243	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs148192482	chr21:47499249-47499250	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs375003255	chr21:47499258-47499259	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs534730841	chr21:47499265-47499266	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs552665798	chr21:47499305-47499306	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs550341372	chr21:47499310-47499311	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs571248416	chr21:47499317-47499318	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs570189433	chr21:47499319-47499320	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs557330982	chr21:47499337-47499338	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs150312635	chr21:47499345-47499346	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs35157675	chr21:47499350-47499351	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs13053044	chr21:47499364-47499365	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs79420786	chr21:47499365-47499366	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs138038147	chr21:47499378-47499379	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs541545370	chr21:47499379-47499380	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs559474457	chr21:47499403-47499404	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs533405887	chr21:47499417-47499418	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs79844149	chr21:47499418-47499419	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs563593303	chr21:47499432-47499433	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs574098460	chr21:47499447-47499448	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs549132234	chr21:47499449-47499450	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs542874520	chr21:47499452-47499453	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs567541250	chr21:47499462-47499463	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs186739412	chr21:47499463-47499464	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546708612	chr21:47499472-47499473	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs73380474	chr21:47499482-47499483	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	n/a	n/a	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47485200-47517400	Weak transcription	Right Atrium	heart
2	chr21:47489400-47511000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:47489600-47499200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:47489600-47511000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr21:47491200-47499000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:47497600-47504800	Enhancers	NHDF-Ad	bronchial
7	chr21:47498000-47499200	Enhancers	Osteobl	bone
8	chr21:47498200-47499000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:47498200-47499400	Enhancers	Adipose Nuclei	Adipose
10	chr21:47498200-47499600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr21:47498200-47500800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr21:47498200-47504600	Enhancers	Fetal Muscle Leg	muscle
13	chr21:47498400-47498800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr21:47498400-47499600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
15	chr21:47498400-47499600	Enhancers	NHLF	lung
16	chr21:47498400-47501200	Enhancers	Right Ventricle	heart
17	chr21:47498400-47502000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:47498600-47498800	Bivalent Enhancer	Placenta	Placenta
19	chr21:47498600-47498800	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr21:47498600-47499000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr21:47498600-47500000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr21:47498600-47500600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:47498600-47500600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr21:47498600-47501200	Enhancers	Colon Smooth Muscle	Colon
25	chr21:47498600-47502000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr21:47498800-47499000	Enhancers	Stomach Smooth Muscle	stomach
27	chr21:47498800-47499200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr21:47498800-47500200	Enhancers	Placenta	Placenta
29	chr21:47498800-47501000	Enhancers	Left Ventricle	heart
30	chr21:47498800-47501200	Enhancers	Fetal Heart	heart
31	chr21:47498800-47501200	Enhancers	Rectal Smooth Muscle	rectum
32	chr21:47498800-47501800	Enhancers	Fetal Stomach	stomach
33	chr21:47498800-47502000	Enhancers	NH-A	brain
34	chr21:47499000-47499200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr21:47499000-47499200	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr21:47499000-47499800	Enhancers	HSMM	muscle
37	chr21:47499000-47500600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr21:47499000-47501200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:47499000-47501200	Enhancers	Fetal Lung	lung
40	chr21:47499000-47502600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr21:47499000-47504400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr21:47499200-47499400	Enhancers	Fetal Intestine Small	intestine
43	chr21:47499200-47499400	Flanking Active TSS	Osteobl	bone
44	chr21:47499200-47499600	Enhancers	Stomach Smooth Muscle	stomach
45	chr21:47499200-47499800	Enhancers	Gastric	stomach
46	chr21:47499200-47499800	Enhancers	Lung	lung
47	chr21:47499200-47499800	Enhancers	HSMMtube	muscle
48	chr21:47499200-47500000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr21:47499200-47500800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr21:47499200-47500800	Enhancers	Colonic Mucosa	Colon

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