Variant report

Variant	esv1796335
Chromosome Location	chr21:39866997-39868968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:39868178..39870338-chr21:39876801..39879710,3	MCF-7	breast:
2	chr21:39866030..39869325-chr21:39869672..39873977,4	MCF-7	breast:
3	chr21:39868583..39871033-chr21:39873297..39876116,2	K562	blood:

Variant related genes	Relation type
ENSG00000231480	chromatin interactions
ENSG00000157554	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190280457	chr21:39867006-39867007	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs114200084	chr21:39867011-39867012	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571997821	chr21:39867025-39867026	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34511058	chr21:39867076-39867077	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181112833	chr21:39867078-39867079	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536425481	chr21:39867103-39867104	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548306866	chr21:39867138-39867139	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs116482759	chr21:39867146-39867147	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569982957	chr21:39867163-39867164	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538897629	chr21:39867176-39867177	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185896383	chr21:39867177-39867178	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs17193990	chr21:39867211-39867212	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs75554680	chr21:39867280-39867281	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534462438	chr21:39867286-39867287	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554632002	chr21:39867318-39867319	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115793455	chr21:39867320-39867321	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554274348	chr21:39867403-39867404	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112968460	chr21:39867450-39867451	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs577128116	chr21:39867477-39867478	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546039460	chr21:39867521-39867522	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536699672	chr21:39867537-39867538	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559366196	chr21:39867541-39867542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs554959192	chr21:39867573-39867574	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188260708	chr21:39867588-39867589	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541987498	chr21:39867625-39867626	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs557550437	chr21:39867656-39867657	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575800158	chr21:39867657-39867658	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562233405	chr21:39867664-39867665	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535938540	chr21:39867733-39867734	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs180961338	chr21:39867747-39867748	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550012502	chr21:39867780-39867781	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185388087	chr21:39867794-39867795	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs117649676	chr21:39867795-39867796	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191838408	chr21:39867854-39867855	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539872715	chr21:39867928-39867929	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs565573029	chr21:39867939-39867940	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560947443	chr21:39867963-39867964	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553818890	chr21:39867994-39867995	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182421940	chr21:39868024-39868025	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554236773	chr21:39868033-39868034	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs186543554	chr21:39868071-39868072	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192068895	chr21:39868133-39868134	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557135945	chr21:39868138-39868139	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs139765370	chr21:39868180-39868181	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182494471	chr21:39868217-39868218	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs187146818	chr21:39868230-39868231	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs34452240	chr21:39868247-39868248	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs17193997	chr21:39868250-39868251	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370359909	chr21:39868258-39868259	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542224584	chr21:39868282-39868283	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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 myeloid leukemia	20729466	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
Breast cancer	21364760	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
Acute myeloid leukemia	17237825	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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Prostate cancer	20562851	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39860400-39879000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:39861000-39867600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr21:39861800-39867600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr21:39862000-39872200	Weak transcription	Gastric	stomach
5	chr21:39862000-39877400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr21:39862200-39871200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:39862600-39869400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr21:39865000-39867800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
9	chr21:39865200-39867000	Enhancers	Fetal Thymus	thymus
10	chr21:39865600-39867000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr21:39865600-39867000	Enhancers	Thymus	Thymus
12	chr21:39865600-39867800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr21:39865600-39868000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr21:39865600-39868400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr21:39865600-39868400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr21:39865800-39867000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:39865800-39867000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:39865800-39868400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr21:39865800-39868400	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr21:39865800-39871000	Active TSS	Adipose Nuclei	Adipose
21	chr21:39866000-39867000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:39866000-39868000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:39866000-39868400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr21:39866200-39867400	Enhancers	NH-A	brain
25	chr21:39866200-39867600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr21:39866200-39867800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:39866200-39867800	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr21:39866200-39868000	Active TSS	Lung	lung
29	chr21:39866200-39868200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr21:39866200-39868400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr21:39866200-39868400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr21:39866200-39870400	Active TSS	Right Atrium	heart
33	chr21:39866200-39870600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr21:39866400-39867000	Enhancers	Hela-S3	cervix
35	chr21:39866400-39867000	Enhancers	Osteobl	bone
36	chr21:39866400-39867200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr21:39866400-39867200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr21:39866600-39867000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr21:39866600-39867000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr21:39866600-39867000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr21:39866600-39867000	Active TSS	Stomach Smooth Muscle	stomach
42	chr21:39866600-39867200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr21:39866600-39867200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr21:39866600-39867400	Enhancers	Fetal Kidney	kidney
45	chr21:39866600-39867400	Bivalent Enhancer	HSMM	muscle
46	chr21:39866600-39867600	Weak transcription	Brain Anterior Caudate	brain
47	chr21:39866600-39868400	Active TSS	Left Ventricle	heart
48	chr21:39866600-39868400	Active TSS	Right Ventricle	heart
49	chr21:39866600-39868600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr21:39866600-39870200	Active TSS	Psoas Muscle	Psoas

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