Variant report

Variant	esv3446066
Chromosome Location	chr21:40828257-40830530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:102)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:102 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr21:40828615-40828872	MCF-7	breast:	n/a	n/a
2	CEBPB	chr21:40828699-40828900	K562	blood:	n/a	n/a
3	CTCF	chr21:40828700-40828850	HRPEpiC	eye:	n/a	n/a
4	CTCF	chr21:40828720-40828870	MCF-7	breast:	n/a	n/a
5	CTCF	chr21:40828660-40828810	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr21:40828700-40828850	Caco-2	colon:	n/a	n/a
7	CTCF	chr21:40828660-40828810	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr21:40828620-40828770	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr21:40828600-40828850	BE2_C	brain:	n/a	n/a
10	CTCF	chr21:40828800-40828950	HFF	foreskin:	n/a	n/a
11	CTCF	chr21:40828520-40828670	GM12864	blood:	n/a	n/a
12	CTCF	chr21:40828728-40828824	LNCaP	prostate:	n/a	n/a
13	CTCF	chr21:40828660-40828810	HAc	cerebellar:	n/a	n/a
14	CTCF	chr21:40828660-40828810	HL-60	blood:	n/a	n/a
15	CTCF	chr21:40828600-40828750	RPTEC	kidney:	n/a	n/a
16	CTCF	chr21:40828460-40828710	HAc	cerebellar:	n/a	n/a
17	CTCF	chr21:40828660-40828810	GM12873	blood:	n/a	n/a
18	CTCF	chr21:40828680-40828830	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr21:40828640-40828790	HPF	lung:	n/a	n/a
20	CTCF	chr21:40828440-40828590	HVMF	connective:	n/a	n/a
21	CTCF	chr21:40828360-40828510	RPTEC	kidney:	n/a	n/a
22	CTCF	chr21:40828660-40828810	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr21:40828700-40828850	AG10803	skin:	n/a	n/a
24	CTCF	chr21:40828680-40828830	Caco-2	colon:	n/a	n/a
25	CTCF	chr21:40828687-40828815	MCF-7	breast:	n/a	n/a
26	CTCF	chr21:40828680-40828830	RPTEC	kidney:	n/a	n/a
27	CTCF	chr21:40828620-40828770	AG09309	skin:	n/a	n/a
28	CTCF	chr21:40828700-40828850	GM12871	blood:	n/a	n/a
29	CTCF	chr21:40828660-40828810	HCT-116	colon:	n/a	n/a
30	CTCF	chr21:40828660-40828810	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr21:40828660-40828810	GM12870	blood:	n/a	n/a
32	CTCF	chr21:40828716-40828759	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr21:40828520-40828670	HCM	heart:	n/a	n/a
34	CTCF	chr21:40828640-40828790	A549	lung:	n/a	n/a
35	CTCF	chr21:40828720-40828870	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr21:40828700-40828850	BE2_C	brain:	n/a	n/a
37	CTCF	chr21:40828660-40828810	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr21:40828640-40828790	AG09309	skin:	n/a	n/a
39	CTCF	chr21:40828600-40828750	HRE	kidney:	n/a	n/a
40	CTCF	chr21:40828620-40828770	BJ	skin:	n/a	n/a
41	CTCF	chr21:40828680-40828830	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr21:40828660-40828810	GM12874	blood:	n/a	n/a
43	CTCF	chr21:40828680-40828830	HMEC	breast:	n/a	n/a
44	CTCF	chr21:40828660-40828810	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr21:40828640-40828790	AG04449	skin:	n/a	n/a
46	CTCF	chr21:40828660-40828810	GM12872	blood:	n/a	n/a
47	CTCF	chr21:40828660-40828810	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr21:40828260-40828410	GM12872	blood:	n/a	n/a
49	CTCF	chr21:40828700-40828850	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr21:40828640-40828790	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40821968..40825719-chr21:40825995..40830907,7	K562	blood:
2	chr21:40828806..40830343-chr21:40833036..40834564,2	K562	blood:
3	chr21:40816194..40819113-chr21:40826557..40830216,3	K562	blood:
4	chr21:40820536..40825890-chr21:40826084..40828688,4	K562	blood:
5	chr21:40818424..40820696-chr21:40828473..40830709,2	K562	blood:
6	chr21:40544095..40546729-chr21:40827156..40828956,2	K562	blood:
7	chr21:40828843..40832099-chr21:40833036..40837122,3	K562	blood:

No data

Variant related genes	Relation type
SH3BGR	TF binding region
ENSG00000185437	chromatin interactions
ENSG00000157578	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534398645	chr21:40828369-40828370	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs554033572	chr21:40828370-40828371	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs79034978	chr21:40828382-40828383	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
4	rs537587906	chr21:40828421-40828422	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542728350	chr21:40828446-40828447	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs556550103	chr21:40828447-40828448	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs76487556	chr21:40828452-40828453	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
8	rs36116271	chr21:40828473-40828474	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs78655815	chr21:40828483-40828484	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
10	rs77165160	chr21:40828498-40828499	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
11	rs7281991	chr21:40828500-40828501	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184777152	chr21:40828515-40828516	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs145814990	chr21:40828517-40828518	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs112620265	chr21:40828551-40828552	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs375285578	chr21:40828552-40828553	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs370826538	chr21:40828562-40828563	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529009769	chr21:40828566-40828567	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs548787673	chr21:40828665-40828666	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs78221143	chr21:40828685-40828686	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs143719162	chr21:40828712-40828713	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs35691478	chr21:40828736-40828737	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs188846578	chr21:40828742-40828743	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571981790	chr21:40828760-40828761	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs534191888	chr21:40828787-40828788	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs554366558	chr21:40828859-40828860	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs5843965	chr21:40828867-40828868	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs199751962	chr21:40828871-40828872	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs398061747	chr21:40828874-40828875	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs975934	chr21:40829068-40829069	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs5843966	chr21:40829170-40829171	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs10678055	chr21:40829171-40829172	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs386394761	chr21:40829175-40829176	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201996141	chr21:40829176-40829177	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs398071677	chr21:40829177-40829178	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs536789363	chr21:40829182-40829183	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs200728858	chr21:40829216-40829217	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs9636959	chr21:40829243-40829244	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs576081280	chr21:40829254-40829255	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs574439715	chr21:40829276-40829277	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs181646811	chr21:40829336-40829337	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs558485386	chr21:40829375-40829376	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs34457154	chr21:40829387-40829388	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs577536130	chr21:40829403-40829404	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs370141391	chr21:40829426-40829427	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs540132948	chr21:40829488-40829489	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs560328697	chr21:40829551-40829552	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs186498449	chr21:40829577-40829578	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs189785229	chr21:40829579-40829580	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs181379318	chr21:40829582-40829583	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs146585887	chr21:40829616-40829617	Weak transcription Enhancers	Chromatin interactive region	2 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
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
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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40822800-40828600	Active TSS	Right Ventricle	heart
2	chr21:40824000-40852400	Weak transcription	Pancreas	Pancrea
3	chr21:40824800-40828400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:40825000-40847800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr21:40825200-40828400	Enhancers	Brain Cingulate Gyrus	brain
6	chr21:40825400-40828600	Enhancers	Brain Hippocampus Middle	brain
7	chr21:40825400-40828800	Enhancers	Brain Anterior Caudate	brain
8	chr21:40825400-40829600	Weak transcription	Aorta	Aorta
9	chr21:40825600-40836800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr21:40825800-40828600	Enhancers	Brain Substantia Nigra	brain
11	chr21:40825800-40828800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr21:40826200-40828800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr21:40826400-40828600	Enhancers	Left Ventricle	heart
14	chr21:40826400-40828800	Enhancers	Brain Angular Gyrus	brain
15	chr21:40826600-40849800	Weak transcription	HSMMtube	muscle
16	chr21:40827400-40879800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr21:40827600-40831400	Weak transcription	Psoas Muscle	Psoas
18	chr21:40827800-40828400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr21:40827800-40829000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr21:40827800-40835200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr21:40828000-40828400	Enhancers	Fetal Heart	heart
22	chr21:40828000-40828600	Enhancers	Fetal Brain Male	brain
23	chr21:40828200-40839600	Weak transcription	Fetal Muscle Leg	muscle
24	chr21:40828400-40828600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:40828400-40828600	Flanking Active TSS	Fetal Heart	heart
26	chr21:40828400-40828600	Enhancers	Fetal Muscle Trunk	muscle
27	chr21:40828400-40835400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr21:40828600-40828800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr21:40828600-40828800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr21:40828600-40828800	Enhancers	Right Ventricle	heart
31	chr21:40828600-40829000	Enhancers	Fetal Heart	heart
32	chr21:40828600-40835400	Weak transcription	Left Ventricle	heart
33	chr21:40828600-40835600	Weak transcription	Brain Hippocampus Middle	brain
34	chr21:40828600-40847400	Weak transcription	Brain Substantia Nigra	brain
35	chr21:40828800-40834600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr21:40828800-40834800	Weak transcription	Right Ventricle	heart
37	chr21:40828800-40835400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr21:40828800-40847600	Weak transcription	Brain Angular Gyrus	brain
39	chr21:40828800-40847600	Weak transcription	Brain Anterior Caudate	brain
40	chr21:40829000-40829400	Weak transcription	Fetal Heart	heart
41	chr21:40829000-40829400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr21:40829400-40829800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr21:40829400-40830000	Enhancers	Fetal Heart	heart
44	chr21:40829600-40829800	Enhancers	Aorta	Aorta
45	chr21:40829800-40834800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr21:40829800-40856200	Weak transcription	Aorta	Aorta
47	chr21:40830000-40830200	Enhancers	Primary T cells from cord blood	blood
48	chr21:40830000-40835600	Weak transcription	Fetal Heart	heart
49	chr21:40830200-40849800	Weak transcription	Primary T cells from cord blood	blood

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