Variant report

Variant	esv12733
Chromosome Location	chr21:44970196-44973492
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	CTCF	chr21:44970220-44970370	GM12864	blood:	n/a	n/a
2	EP300	chr21:44969004-44970296	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr21:44972263-44972283	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:44934950..44937426-chr21:44968683..44970792,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RRP1B-5	chr21:44971110-44971481	NONHSAT082437

Variant related genes	Relation type
RPL31P1	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575615265	chr21:44970234-44970235	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs56369437	chr21:44970275-44970276	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376794563	chr21:44970285-44970286	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs11911293	chr21:44970337-44970338	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376999029	chr21:44970368-44970369	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs188039823	chr21:44970451-44970452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529090596	chr21:44970577-44970578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532919216	chr21:44970611-44970612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs8133167	chr21:44970649-44970650	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559615179	chr21:44970676-44970677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368644579	chr21:44970740-44970741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192662688	chr21:44970742-44970743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551571197	chr21:44970951-44970952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183390673	chr21:44971016-44971017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13052174	chr21:44971067-44971068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7277854	chr21:44971181-44971182	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs188071540	chr21:44971350-44971351	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs370779176	chr21:44971358-44971359	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs191949599	chr21:44971364-44971365	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs551211653	chr21:44971365-44971366	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs200861869	chr21:44971462-44971463	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs547143861	chr21:44971580-44971581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565652091	chr21:44971693-44971694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539553946	chr21:44971792-44971793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143920109	chr21:44971806-44971807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563024965	chr21:44972074-44972075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566479282	chr21:44972167-44972168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530555917	chr21:44972209-44972210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139203901	chr21:44972491-44972492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs8129384	chr21:44972641-44972642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549080033	chr21:44972693-44972694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7277115	chr21:44972734-44972735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184371165	chr21:44972768-44972769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567124071	chr21:44972776-44972777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75625330	chr21:44972795-44972796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7277410	chr21:44972945-44972946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189141827	chr21:44973032-44973033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192689806	chr21:44973104-44973105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184304223	chr21:44973237-44973238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150652152	chr21:44973286-44973287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138603991	chr21:44973300-44973301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537308186	chr21:44973302-44973303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545532362	chr21:44973306-44973307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374987957	chr21:44973327-44973328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189590116	chr21:44973349-44973350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549350522	chr21:44973416-44973417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112329320	chr21:44973469-44973470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs59733167	chr21:44973471-44973472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201680655	chr21:44973479-44973480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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 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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	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 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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44967600-44976800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:44968000-44970400	Enhancers	HSMMtube	muscle
3	chr21:44968600-44973400	Weak transcription	Thymus	Thymus
4	chr21:44969000-44970200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr21:44969000-44970200	Enhancers	Fetal Lung	lung
6	chr21:44969000-44970400	Enhancers	Fetal Muscle Leg	muscle
7	chr21:44969000-44971400	Enhancers	Placenta	Placenta
8	chr21:44969400-44970400	Enhancers	HSMM	muscle
9	chr21:44970400-44973200	Weak transcription	Fetal Muscle Leg	muscle
10	chr21:44970400-44982400	Weak transcription	HSMMtube	muscle
11	chr21:44973000-44973600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:44973200-44973600	Enhancers	Fetal Muscle Leg	muscle
13	chr21:44973400-44973600	Enhancers	Thymus	Thymus

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