Variant report

Variant	esv3358497
Chromosome Location	chr21:47055574-47058372
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47015065..47016707-chr21:47057215..47058821,2	K562	blood:
2	chr21:47054503..47058217-chr21:47058461..47061717,3	K562	blood:
3	chr21:47054633..47058675-chr21:47062386..47065972,3	K562	blood:
4	chr21:47057929..47060288-chr21:47187277..47188935,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183570	chromatin interactions

Extended variants
information (count: 158 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs573467990	chr21:47055631-47055632	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553580529	chr21:47055651-47055652	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs7410098	chr21:47055666-47055667	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs539377461	chr21:47055667-47055668	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563219517	chr21:47055737-47055738	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544853410	chr21:47055744-47055745	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565109837	chr21:47055754-47055755	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377737075	chr21:47055769-47055770	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533446555	chr21:47055770-47055771	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374324380	chr21:47055781-47055782	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs544110972	chr21:47055786-47055787	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187410884	chr21:47055805-47055806	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199659339	chr21:47055858-47055859	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542611636	chr21:47055868-47055869	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575299797	chr21:47055878-47055879	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373449323	chr21:47055889-47055890	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554228463	chr21:47055890-47055891	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs111174496	chr21:47055922-47055923	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572933079	chr21:47055923-47055924	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544234261	chr21:47055940-47055941	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539947671	chr21:47055944-47055945	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376095088	chr21:47055949-47055950	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565116326	chr21:47055950-47055951	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532160284	chr21:47055960-47055961	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543966426	chr21:47055964-47055965	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368546176	chr21:47055977-47055978	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs61728403	chr21:47055991-47055992	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200569509	chr21:47055997-47055998	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567550486	chr21:47056036-47056037	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs61722030	chr21:47056055-47056056	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs61720832	chr21:47056056-47056057	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571735085	chr21:47056068-47056069	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539258739	chr21:47056082-47056083	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528225730	chr21:47056089-47056090	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201887373	chr21:47056100-47056101	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs61720613	chr21:47056119-47056120	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs62647169	chr21:47056135-47056136	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536534192	chr21:47056151-47056152	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201046861	chr21:47056152-47056153	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554595400	chr21:47056164-47056165	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572728602	chr21:47056182-47056183	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148527415	chr21:47056228-47056229	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540356980	chr21:47056252-47056253	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200639296	chr21:47056253-47056254	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs111213132	chr21:47056267-47056268	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555993716	chr21:47056270-47056271	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201852622	chr21:47056276-47056277	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200098772	chr21:47056277-47056278	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568135203	chr21:47056297-47056298	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111213133	chr21:47056303-47056304	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive 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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47050400-47055800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:47052600-47059000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr21:47052800-47058000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr21:47052800-47058400	Weak transcription	Primary T cells from cord blood	blood
5	chr21:47053000-47058000	Weak transcription	Dnd41	blood
6	chr21:47053200-47055800	Weak transcription	Spleen	Spleen
7	chr21:47054400-47056200	Enhancers	Gastric	stomach
8	chr21:47054800-47056000	Transcr. at gene 5' and 3'	Thymus	Thymus
9	chr21:47054800-47056600	Enhancers	Pancreas	Pancrea
10	chr21:47054800-47057200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:47055000-47055600	Active TSS	Fetal Thymus	thymus
12	chr21:47055000-47056400	ZNF genes & repeats	K562	blood
13	chr21:47055000-47056600	ZNF genes & repeats	Fetal Heart	heart
14	chr21:47055000-47056600	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
15	chr21:47055000-47056600	Bivalent/Poised TSS	Fetal Lung	lung
16	chr21:47055200-47056000	Bivalent/Poised TSS	NHDF-Ad	bronchial
17	chr21:47055200-47056400	Weak transcription	HSMM	muscle
18	chr21:47055400-47055600	Bivalent/Poised TSS	Fetal Brain Male	brain
19	chr21:47055400-47056600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
20	chr21:47055400-47056800	ZNF genes & repeats	Esophagus	oesophagus
21	chr21:47055400-47057000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:47055400-47058000	Weak transcription	GM12878-XiMat	blood
23	chr21:47055400-47058600	Weak transcription	HSMMtube	muscle
24	chr21:47055400-47058800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr21:47055600-47055800	Flanking Active TSS	Fetal Thymus	thymus
26	chr21:47055800-47056000	Enhancers	Lung	lung
27	chr21:47055800-47056000	Flanking Active TSS	Spleen	Spleen
28	chr21:47055800-47056400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:47055800-47056600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr21:47055800-47058600	Enhancers	Fetal Thymus	thymus
31	chr21:47056000-47056200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:47056000-47056200	Weak transcription	Lung	lung
33	chr21:47056000-47056600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
34	chr21:47056000-47056800	Genic enhancers	Thymus	Thymus
35	chr21:47056000-47057000	Genic enhancers	Spleen	Spleen
36	chr21:47056200-47056400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr21:47056200-47056400	Flanking Active TSS	Gastric	stomach
38	chr21:47056200-47057000	ZNF genes & repeats	Lung	lung
39	chr21:47056400-47056600	Enhancers	Gastric	stomach
40	chr21:47056400-47056800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr21:47056400-47058000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr21:47056400-47063600	Weak transcription	K562	blood
43	chr21:47056600-47057200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr21:47056600-47057200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
45	chr21:47056600-47059600	Weak transcription	Fetal Heart	heart
46	chr21:47056600-47060000	Weak transcription	Gastric	stomach
47	chr21:47056600-47061400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr21:47056600-47063600	Weak transcription	Pancreas	Pancrea
49	chr21:47056800-47057000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr21:47056800-47059800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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