Variant report

Variant	nsv1067330
Chromosome Location	chr21:40841948-40879552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:40855824-40856205	K562	blood:	n/a	n/a
2	ATF1	chr21:40855897-40856232	K562	blood:	n/a	n/a
3	CCNT2	chr21:40855949-40856278	K562	blood:	n/a	n/a
4	CEBPB	chr21:40855967-40856284	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr21:40854429-40854467	HepG2	liver:	n/a	n/a
6	CEBPB	chr21:40854366-40854487	K562	blood:	n/a	n/a
7	CEBPB	chr21:40849772-40850000	IMR90	lung:	n/a	n/a
8	CEBPB	chr21:40852153-40852237	A549	lung:	n/a	chr21:40852187-40852198
9	CEBPB	chr21:40852102-40852236	HepG2	liver:	n/a	chr21:40852187-40852198
10	CEBPB	chr21:40855884-40856247	MCF-7	breast:	n/a	n/a
11	CTCF	chr21:40872652-40872678	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr21:40851379-40851424	GM19239	blood:	n/a	n/a
13	CTCF	chr21:40848600-40848750	HEK293	kidney:	n/a	chr21:40848723-40848732 chr21:40848722-40848743
14	CTCF	chr21:40858827-40858870	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr21:40864996-40865026	GM20000	blood:	n/a	n/a
16	CTCF	chr21:40851164-40851351	MCF-7	breast:	n/a	n/a
17	CTCF	chr21:40851277-40851340	Fibrobl	skin:	n/a	n/a
18	CTCF	chr21:40875123-40875158	GM20000	blood:	n/a	n/a
19	CUX1	chr21:40852474-40852611	K562	blood:	n/a	n/a
20	E2F4	chr21:40879046-40879196	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F6	chr21:40874296-40874737	H1-hESC	embryonic stem cell:	n/a	n/a
22	E2F6	chr21:40874391-40874667	H1-hESC	embryonic stem cell:	n/a	n/a
23	EBF1	chr21:40861503-40861712	GM12878	blood:	n/a	chr21:40861601-40861612
24	EBF1	chr21:40861505-40861772	GM12878	blood:	n/a	chr21:40861601-40861612
25	EGR1	chr21:40842338-40842561	K562	blood:	n/a	n/a
26	EP300	chr21:40855790-40856297	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr21:40855871-40856268	K562	blood:	n/a	n/a
28	EP300	chr21:40855851-40856238	SK-N-SH_RA	brain:	n/a	n/a
29	EP300	chr21:40873430-40873576	K562	blood:	n/a	n/a
30	EP300	chr21:40855964-40856194	Hela-S3	cervix:	n/a	n/a
31	EP300	chr21:40856823-40857367	SK-N-SH	brain:	n/a	n/a
32	EP300	chr21:40856900-40857328	SK-N-SH_RA	brain:	n/a	n/a
33	EP300	chr21:40856923-40857248	SK-N-SH_RA	brain:	n/a	n/a
34	EP300	chr21:40856838-40857309	T-47D	breast:	n/a	n/a
35	ESR1	chr21:40856902-40857329	T-47D	breast:	n/a	n/a
36	ESR1	chr21:40856931-40857396	T-47D	breast:	n/a	n/a
37	ESR1	chr21:40856877-40857406	T-47D	breast:	n/a	n/a
38	ESR1	chr21:40856938-40857386	T-47D	breast:	n/a	n/a
39	ESR1	chr21:40864859-40865275	T-47D	breast:	n/a	n/a
40	FOS	chr21:40855995-40856171	MCF10A-Er-Src	breast:	n/a	n/a
41	FOSL2	chr21:40855828-40856395	SK-N-SH	brain:	n/a	n/a
42	FOSL2	chr21:40855861-40856379	MCF-7	breast:	n/a	n/a
43	FOXA1	chr21:40864876-40865235	T-47D	breast:	n/a	n/a
44	FOXA1	chr21:40856930-40857349	T-47D	breast:	n/a	n/a
45	FOXA1	chr21:40864902-40865218	T-47D	breast:	n/a	n/a
46	FOXA1	chr21:40856916-40857300	T-47D	breast:	n/a	n/a
47	GABPA	chr21:40874960-40875452	HL-60	blood:	n/a	n/a
48	GABPA	chr21:40874940-40875486	HL-60	blood:	n/a	n/a
49	GATA1	chr21:40854994-40856502	K562	blood:	n/a	chr21:40856430-40856437 chr21:40855985-40855992 chr21:40856423-40856444 chr21:40855983-40855993 chr21:40856148-40856155 chr21:40856426-40856442 chr21:40855985-40855992 chr21:40856148-40856155 chr21:40856430-40856437 chr21:40856117-40856126 chr21:40855978-40855999 chr21:40856430-40856437 chr21:40855981-40855994 chr21:40855985-40855992 chr21:40856148-40856155 chr21:40855983-40855992
50	GATA2	chr21:40855978-40856297	SH-SY5Y	brain:	n/a	chr21:40855985-40855992 chr21:40855983-40855993 chr21:40856148-40856155 chr21:40855985-40855992 chr21:40856148-40856155 chr21:40856117-40856126 chr21:40855978-40855999 chr21:40855981-40855994 chr21:40855985-40855992 chr21:40856148-40856155 chr21:40855983-40855992

No.	Distal block	Cell Line	Cell type
1	chr21:40842346..40845248-chr21:40847999..40850536,2	K562	blood:
2	chr21:40842346..40845248-chr21:40847999..40850536,2	K562	blood:
3	chr21:40817030..40819753-chr21:40851641..40854167,2	MCF-7	breast:
4	chr21:40873636..40875613-chr21:40877130..40879236,2	K562	blood:
5	chr21:40870583..40873437-chr21:40873635..40876593,2	K562	blood:
6	chr21:40825465..40827848-chr21:40854649..40856447,2	K562	blood:
7	chr21:40843042..40844967-chr21:40948609..40950746,2	MCF-7	breast:
8	chr21:40866413..40867950-chr21:40879488..40881131,2	K562	blood:
9	chr21:40845066..40847673-chr21:40849022..40851771,3	MCF-7	breast:
10	chr21:40877342..40880312-chr21:40887456..40889959,2	MCF-7	breast:
11	chr21:40866413..40867950-chr21:40879488..40881131,2	K562	blood:
12	chr21:40856524..40858264-chr21:41041120..41043051,2	MCF-7	breast:
13	chr21:40854953..40857406-chr21:40860627..40862371,2	MCF-7	breast:
14	chr21:40855062..40856739-chr21:40872543..40874201,2	K562	blood:
15	chr21:40854953..40857406-chr21:40860627..40862371,2	MCF-7	breast:
16	chr21:40845066..40847673-chr21:40849022..40851771,3	MCF-7	breast:
17	chr21:40855062..40856739-chr21:40872543..40874201,2	K562	blood:
18	chr21:40873636..40875613-chr21:40877130..40879236,2	K562	blood:
19	chr21:40868881..40871731-chr21:40873960..40875993,2	MCF-7	breast:
20	chr21:40868881..40871731-chr21:40873960..40875993,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCA5L-1	chr21:40863470-40863824	NONHSAT082197
2	lnc-WRB-4	chr21:40860253-40860686	NONHSAT082196

Variant related genes	Relation type
RPS26P4	TF binding region
MYL6P2	TF binding region
SH3BGR	TF binding region
ENSG00000157578	chromatin interactions
ENSG00000185437	chromatin interactions

Extended variants
information (count: 1390 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1390 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6517552	chr21:40841948-40841949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564934222	chr21:40841992-40841993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375177919	chr21:40842005-40842006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184248053	chr21:40842030-40842031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532667775	chr21:40842077-40842078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575345221	chr21:40842091-40842092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544349571	chr21:40842104-40842105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147859680	chr21:40842128-40842129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544962391	chr21:40842148-40842149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533014501	chr21:40842151-40842152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189082086	chr21:40842190-40842191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560173125	chr21:40842243-40842244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529653839	chr21:40842260-40842261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376647056	chr21:40842263-40842264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202012537	chr21:40842265-40842266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141312238	chr21:40842297-40842298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538064574	chr21:40842374-40842375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551916435	chr21:40842379-40842380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571672467	chr21:40842430-40842431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192783541	chr21:40842431-40842432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7283910	chr21:40842460-40842461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs567314401	chr21:40842485-40842486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs137961356	chr21:40842517-40842518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185512919	chr21:40842522-40842523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149059893	chr21:40842567-40842568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566607116	chr21:40842606-40842607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544310297	chr21:40842615-40842616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557909965	chr21:40842622-40842623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368564740	chr21:40842668-40842669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190819722	chr21:40842695-40842696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560236434	chr21:40842712-40842713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369182924	chr21:40842731-40842732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571612248	chr21:40842789-40842790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527375361	chr21:40842830-40842831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528898415	chr21:40842861-40842862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181891279	chr21:40842880-40842881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552252288	chr21:40842954-40842955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185712707	chr21:40843041-40843042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563054730	chr21:40843069-40843070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563881232	chr21:40843077-40843078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570416374	chr21:40843078-40843079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532005426	chr21:40843084-40843085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189000581	chr21:40843089-40843090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181095153	chr21:40843092-40843093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112785884	chr21:40843097-40843098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34517342	chr21:40843102-40843103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4389391	chr21:40843150-40843151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs376272631	chr21:40843178-40843179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186696597	chr21:40843200-40843201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7278892	chr21:40843234-40843235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:72)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40824000-40852400	Weak transcription	Pancreas	Pancrea
2	chr21:40825000-40847800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr21:40826600-40849800	Weak transcription	HSMMtube	muscle
4	chr21:40827400-40879800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr21:40828600-40847400	Weak transcription	Brain Substantia Nigra	brain
6	chr21:40828800-40847600	Weak transcription	Brain Angular Gyrus	brain
7	chr21:40828800-40847600	Weak transcription	Brain Anterior Caudate	brain
8	chr21:40829800-40856200	Weak transcription	Aorta	Aorta
9	chr21:40830200-40849800	Weak transcription	Primary T cells from cord blood	blood
10	chr21:40833000-40847200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr21:40835600-40851000	Weak transcription	Ovary	ovary
12	chr21:40835800-40847800	Weak transcription	Left Ventricle	heart
13	chr21:40836200-40851000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr21:40836200-40852200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr21:40836400-40851400	Weak transcription	Brain Hippocampus Middle	brain
16	chr21:40836400-40894800	Weak transcription	Right Ventricle	heart
17	chr21:40838800-40849800	Weak transcription	Liver	Liver
18	chr21:40840200-40844000	Weak transcription	Fetal Heart	heart
19	chr21:40840600-40844000	Weak transcription	Psoas Muscle	Psoas
20	chr21:40840600-40847600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr21:40840600-40847800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr21:40840800-40844200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr21:40844000-40844200	Enhancers	Psoas Muscle	Psoas
24	chr21:40844000-40844600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr21:40844000-40844800	Genic enhancers	Fetal Heart	heart
26	chr21:40844200-40844400	Genic enhancers	Psoas Muscle	Psoas
27	chr21:40844200-40844600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr21:40844200-40844600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr21:40844200-40844800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr21:40844400-40846400	Weak transcription	Psoas Muscle	Psoas
31	chr21:40844600-40844800	Enhancers	Adipose Nuclei	Adipose
32	chr21:40844600-40845000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr21:40844600-40848400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr21:40844800-40845000	Enhancers	Fetal Heart	heart
35	chr21:40844800-40847200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr21:40844800-40855800	Weak transcription	Adipose Nuclei	Adipose
37	chr21:40845000-40846600	Weak transcription	Fetal Heart	heart
38	chr21:40845000-40851200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr21:40845000-40856600	Weak transcription	Colon Smooth Muscle	Colon
40	chr21:40846000-40847000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr21:40846400-40846800	Enhancers	Psoas Muscle	Psoas
42	chr21:40846600-40846800	Enhancers	Gastric	stomach
43	chr21:40846600-40846800	Enhancers	K562	blood
44	chr21:40846600-40847000	Enhancers	Fetal Heart	heart
45	chr21:40846800-40854600	Weak transcription	Psoas Muscle	Psoas
46	chr21:40846800-40862800	Weak transcription	Gastric	stomach
47	chr21:40847000-40847200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr21:40847000-40850200	Weak transcription	Fetal Heart	heart
49	chr21:40847200-40847800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr21:40847200-40848000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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