Variant report

Variant	esv1799107
Chromosome Location	chr21:15650925-15656052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:15650981..15652853-chr21:15655632..15658875,3	K562	blood:
2	chr21:15656047..15658961-chr21:16165584..16168436,2	K562	blood:
3	chr21:15644504..15646965-chr21:15652945..15655779,2	K562	blood:
4	chr21:15642365..15645973-chr21:15647939..15652510,4	K562	blood:
5	chr21:15646214..15647824-chr21:15649237..15651559,2	MCF-7	breast:
6	chr21:15650981..15652853-chr21:15655632..15658875,3	K562	blood:
7	chr21:15652023..15652746-chr7:152811109..152812098,2	MCF-7	breast:
8	chr21:15652280..15654566-chr21:15773386..15776181,2	MCF-7	breast:
9	chr21:15646421..15649560-chr21:15654356..15655933,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBM11-5	chr21:15651917-15651978	NONHSAT081153
2	lnc-RBM11-5	chr21:15651917-15651978	NONHSAT081154
3	lnc-RBM11-5	chr21:15651917-15651978	NONHSAT081156

No data

Variant related genes	Relation type
ENSG00000243064	chromatin interactions

Extended variants
information (count: 223 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2822537	chr21:15650925-15650926	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2822538	chr21:15650938-15650939	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs547965071	chr21:15650958-15650959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373453642	chr21:15650970-15650971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543526203	chr21:15650971-15650972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2822539	chr21:15651006-15651007	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549934182	chr21:15651095-15651096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs150925762	chr21:15651151-15651152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs62227525	chr21:15651181-15651182	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551270985	chr21:15651269-15651270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571206319	chr21:15651283-15651284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs73891691	chr21:15651307-15651308	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2822540	chr21:15651309-15651310	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573685231	chr21:15651320-15651321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2822541	chr21:15651346-15651347	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555953890	chr21:15651375-15651376	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192902426	chr21:15651378-15651379	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544972137	chr21:15651423-15651424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs183820852	chr21:15651435-15651436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs116763289	chr21:15651437-15651438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs56352003	chr21:15651459-15651460	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561105887	chr21:15651553-15651554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140901480	chr21:15651637-15651638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188414732	chr21:15651705-15651706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543912106	chr21:15651760-15651761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199561316	chr21:15651770-15651771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193208086	chr21:15651774-15651775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150165309	chr21:15651779-15651780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571242984	chr21:15651792-15651793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185003177	chr21:15651794-15651795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2822542	chr21:15651805-15651806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138617100	chr21:15651806-15651807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188219765	chr21:15651840-15651841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564636159	chr21:15651844-15651845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536021747	chr21:15651892-15651893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556230378	chr21:15651924-15651925	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs368378449	chr21:15651933-15651934	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs569761976	chr21:15651938-15651939	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs546118617	chr21:15651942-15651943	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs558570017	chr21:15652001-15652002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544966685	chr21:15652031-15652032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141287440	chr21:15652041-15652042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2254297	chr21:15652069-15652070	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs574986743	chr21:15652135-15652136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543604932	chr21:15652145-15652146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147065249	chr21:15652159-15652160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2276212	chr21:15652160-15652161	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs368126109	chr21:15652185-15652186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77182564	chr21:15652246-15652247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs57559966	chr21:15652250-15652251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15647000-15653000	Weak transcription	K562	blood
2	chr21:15647800-15653200	Weak transcription	Placenta	Placenta
3	chr21:15650600-15652400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:15650800-15651600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr21:15651800-15652000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:15652000-15652800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr21:15652000-15653000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr21:15652000-15653000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr21:15652000-15653000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr21:15652200-15653000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr21:15652200-15653000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr21:15652400-15653000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr21:15652800-15653000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr21:15653000-15653200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr21:15653000-15653200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr21:15653000-15653200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr21:15653000-15653200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr21:15653000-15653200	Enhancers	K562	blood
19	chr21:15653000-15653400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr21:15653000-15653400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr21:15653000-15653600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr21:15653000-15653600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr21:15653000-15653600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr21:15653000-15654000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr21:15653000-15654000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr21:15653200-15653400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:15653200-15653400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr21:15653200-15653600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr21:15653200-15653600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:15653200-15653600	Active TSS	Fetal Intestine Large	intestine
31	chr21:15653200-15653800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr21:15653200-15653800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr21:15653200-15654000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr21:15653200-15654000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr21:15653200-15654000	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr21:15653200-15654000	Enhancers	Placenta	Placenta
37	chr21:15653200-15654200	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr21:15653200-15657000	Weak transcription	K562	blood
39	chr21:15653400-15653600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr21:15653400-15653800	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr21:15653400-15653800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr21:15653400-15653800	Active TSS	Fetal Intestine Small	intestine
43	chr21:15653400-15654000	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr21:15653600-15653800	Active TSS	Primary hematopoietic stem cells	blood
45	chr21:15653600-15653800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr21:15653600-15654200	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr21:15653600-15655600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr21:15653800-15654000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr21:15653800-15654000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:15653800-15654200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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