Variant report

Variant	esv3358381
Chromosome Location	chr21:45837424-45841722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:45839551-45839626	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr21:45839387-45839729	GM19239	blood:	n/a	n/a
3	CTCF	chr21:45839796-45839800	GM19239	blood:	n/a	n/a
4	CTCF	chr21:45839767-45839794	GM19239	blood:	n/a	n/a
5	EBF1	chr21:45836505-45837767	GM12878	blood:	n/a	n/a
6	EBF1	chr21:45836512-45837751	GM12878	blood:	n/a	n/a
7	HEY1	chr21:45837385-45837704	K562	blood:	n/a	n/a
8	MYC	chr21:45839634-45839644	MCF-7	breast:	n/a	n/a
9	MYC	chr21:45839654-45839657	MCF-7	breast:	n/a	n/a
10	MYC	chr21:45839610-45839815	MCF-7	breast:	n/a	n/a
11	MYC	chr21:45839661-45839664	MCF-7	breast:	n/a	n/a
12	MYC	chr21:45839672-45839680	MCF-7	breast:	n/a	n/a
13	PAX5	chr21:45837122-45837682	GM12878	blood:	n/a	n/a
14	PAX5	chr21:45837462-45837703	GM12878	blood:	n/a	n/a
15	POLR2A	chr21:45839634-45839757	Gliobla	brain:	n/a	n/a
16	POLR2A	chr21:45838406-45839133	HL-60	blood:	n/a	n/a
17	POLR2A	chr21:45839761-45839766	Gliobla	brain:	n/a	n/a
18	POLR2A	chr21:45839610-45839622	Gliobla	brain:	n/a	n/a
19	POLR2A	chr21:45836507-45837704	GM12878	blood:	n/a	n/a
20	POLR2A	chr21:45841628-45841981	HL-60	blood:	n/a	n/a
21	POU2F2	chr21:45836680-45837810	GM12891	blood:	n/a	n/a
22	SIX5	chr21:45837146-45837566	K562	blood:	n/a	n/a
23	SUZ12	chr21:45839438-45839980	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZBTB33	chr21:45837239-45837549	GM12878	blood:	n/a	n/a
25	ZNF263	chr21:45838767-45839111	HEK293-T-REx	kidney:	n/a	chr21:45838887-45838896 chr21:45838887-45838908 chr21:45839071-45839080 chr21:45838862-45838883

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45834549..45837461-chr21:45842210..45845820,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC3-6	chr21:45837996-45838050	ucscGeneNc_uc002zhn_1
2	lnc-LRRC3-6	chr21:45837996-45838050	NONHSAT082515
3	lnc-LRRC3-6	chr21:45840733-45841351	NONHSAT082515
4	lnc-LRRC3-6	chr21:45839915-45840003	NONHSAT082516
5	lnc-LRRC3-6	chr21:45840733-45841433	NONHSAT082516
6	lnc-LRRC3-6	chr21:45838020-45838050	NONHSAT082516
7	lnc-LRRC3-6	chr21:45840733-45841691	ucscGeneNc_uc002zhn_1

No data

Variant related genes	Relation type
ENSG00000230061	TF binding region
TRPM2	TF binding region
ENSG00000142185	chromatin interactions
ENSG00000230061	chromatin interactions

Extended variants
information (count: 299 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371899503	chr21:45837429-45837430	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs56144917	chr21:45837433-45837434	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs536127908	chr21:45837460-45837461	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs112971439	chr21:45837461-45837462	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs547812327	chr21:45837466-45837467	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs566463330	chr21:45837473-45837474	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs533693939	chr21:45837489-45837490	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs558626998	chr21:45837506-45837507	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs576814984	chr21:45837509-45837510	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs538461184	chr21:45837518-45837519	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs556758962	chr21:45837538-45837539	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs575244103	chr21:45837544-45837545	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs542517947	chr21:45837545-45837546	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs560331813	chr21:45837584-45837585	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs200401194	chr21:45837599-45837600	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs572395331	chr21:45837607-45837608	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs111371083	chr21:45837618-45837619	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs564625955	chr21:45837642-45837643	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs369626245	chr21:45837658-45837659	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs113553668	chr21:45837664-45837665	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs562322400	chr21:45837673-45837674	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529985574	chr21:45837675-45837676	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs201025280	chr21:45837690-45837691	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs548073401	chr21:45837697-45837698	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs566612388	chr21:45837704-45837705	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs533783829	chr21:45837714-45837715	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs201744822	chr21:45837719-45837720	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs551856407	chr21:45837738-45837739	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs544007386	chr21:45837739-45837740	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs537922803	chr21:45837740-45837741	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs556822547	chr21:45837741-45837742	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs201323768	chr21:45837744-45837745	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs141145336	chr21:45837745-45837746	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs565696555	chr21:45837759-45837760	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs114763261	chr21:45837782-45837783	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs374169628	chr21:45837783-45837784	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs1785452	chr21:45837790-45837791	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs201748864	chr21:45837837-45837838	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371699950	chr21:45837843-45837844	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541159083	chr21:45837863-45837864	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374801617	chr21:45837888-45837889	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576159936	chr21:45837889-45837890	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200346541	chr21:45837892-45837893	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144487473	chr21:45837897-45837898	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371207692	chr21:45837898-45837899	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372801595	chr21:45837900-45837901	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375478799	chr21:45837901-45837902	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139485554	chr21:45837902-45837903	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369751718	chr21:45837903-45837904	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376722041	chr21:45837906-45837907	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
Prostate cancer	18632612	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45807200-45839400	Weak transcription	Gastric	stomach
2	chr21:45812800-45858200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr21:45815800-45874800	Weak transcription	Right Atrium	heart
4	chr21:45816600-45849800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr21:45817200-45847200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr21:45820000-45863400	Weak transcription	Primary T cells from cord blood	blood
7	chr21:45824200-45847600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr21:45824800-45844800	Weak transcription	Colonic Mucosa	Colon
9	chr21:45826400-45857000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr21:45826600-45839000	Weak transcription	Lung	lung
11	chr21:45826600-45839200	Weak transcription	Brain Anterior Caudate	brain
12	chr21:45827400-45838000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr21:45829400-45838400	Weak transcription	Brain Angular Gyrus	brain
14	chr21:45829400-45846600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr21:45829600-45839200	Weak transcription	Primary B cells from cord blood	blood
16	chr21:45830000-45839000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr21:45833400-45839000	Strong transcription	Spleen	Spleen
18	chr21:45833400-45847800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr21:45834200-45837600	Weak transcription	Esophagus	oesophagus
20	chr21:45834200-45840200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr21:45835400-45837800	Weak transcription	Thymus	Thymus
22	chr21:45835600-45837600	Weak transcription	Adipose Nuclei	Adipose
23	chr21:45836000-45838600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr21:45836200-45839800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:45836200-45847800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr21:45836400-45838000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr21:45836400-45838000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr21:45837200-45843400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr21:45837400-45839400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:45837400-45840400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr21:45837600-45838400	ZNF genes & repeats	Fetal Stomach	stomach
32	chr21:45837600-45838600	Strong transcription	Adipose Nuclei	Adipose
33	chr21:45837800-45839200	ZNF genes & repeats	Fetal Thymus	thymus
34	chr21:45837800-45839800	ZNF genes & repeats	Thymus	Thymus
35	chr21:45838000-45839200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
36	chr21:45838000-45839400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr21:45838000-45839400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr21:45838200-45844800	Weak transcription	Placenta	Placenta
39	chr21:45838400-45838800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr21:45838400-45839800	Strong transcription	Brain Angular Gyrus	brain
41	chr21:45838600-45839200	Enhancers	Right Ventricle	heart
42	chr21:45838600-45839400	Weak transcription	Adipose Nuclei	Adipose
43	chr21:45839000-45839600	Genic enhancers	Spleen	Spleen
44	chr21:45839000-45840800	ZNF genes & repeats	Lung	lung
45	chr21:45839200-45839400	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr21:45839200-45840000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
47	chr21:45839200-45840200	Strong transcription	Brain Anterior Caudate	brain
48	chr21:45839200-45846200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr21:45839200-45847000	Weak transcription	Fetal Thymus	thymus
50	chr21:45839400-45839800	ZNF genes & repeats	Adipose Nuclei	Adipose

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