Variant report

Variant	esv3424712
Chromosome Location	chr21:45836374-45839372
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	chr21:45836954-45836986	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr21:45836716-45836756	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr21:45836935-45836998	Lung_OC	lung:	n/a	n/a
4	CTCF	chr21:45836937-45837011	Kidney_OC	kidney:	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	chr21:45837149-45837151	MCF-7	breast:	n/a	n/a
9	PAX5	chr21:45836900-45837072	GM12878	blood:	n/a	n/a
10	PAX5	chr21:45837462-45837703	GM12878	blood:	n/a	n/a
11	PAX5	chr21:45837122-45837682	GM12878	blood:	n/a	n/a
12	POLR2A	chr21:45836507-45837704	GM12878	blood:	n/a	n/a
13	POLR2A	chr21:45838406-45839133	HL-60	blood:	n/a	n/a
14	POU2F2	chr21:45836539-45836922	GM12878	blood:	n/a	n/a
15	POU2F2	chr21:45836680-45837810	GM12891	blood:	n/a	n/a
16	REST	chr21:45836558-45837091	PANC-1	pancreas:	n/a	n/a
17	SIX5	chr21:45837146-45837566	K562	blood:	n/a	n/a
18	TAF1	chr21:45836618-45836762	GM12892	blood:	n/a	n/a
19	ZBTB33	chr21:45837239-45837549	GM12878	blood:	n/a	n/a
20	ZBTB33	chr21:45836523-45836834	GM12878	blood:	n/a	n/a
21	ZNF263	chr21:45838767-45839111	HEK293-T-REx	kidney:	n/a	chr21:45838887-45838896 chr21:45838887-45838908 chr21:45839071-45839080 chr21:45838862-45838883

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC3-6	chr21:45837996-45838050	NONHSAT082515
2	lnc-LRRC3-6	chr21:45838020-45838050	NONHSAT082516
3	lnc-LRRC3-6	chr21:45837996-45838050	ucscGeneNc_uc002zhn_1

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

Extended variants
information (count: 225 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:225 , 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	rs565462729	chr21:45836375-45836376	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs116698787	chr21:45836401-45836402	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550736209	chr21:45836420-45836421	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs116570270	chr21:45836435-45836436	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs530266338	chr21:45836443-45836444	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs192334163	chr21:45836447-45836448	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs182365187	chr21:45836467-45836468	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs1785464	chr21:45836472-45836473	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553102189	chr21:45836473-45836474	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571466573	chr21:45836493-45836494	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs147853532	chr21:45836496-45836497	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs45629037	chr21:45836502-45836503	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs187954955	chr21:45836507-45836508	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs542177468	chr21:45836525-45836526	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs554247333	chr21:45836553-45836554	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572867704	chr21:45836601-45836602	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs139229537	chr21:45836609-45836610	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs565464182	chr21:45836619-45836620	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532724093	chr21:45836620-45836621	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs200773922	chr21:45836623-45836624	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs544888794	chr21:45836642-45836643	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs199503919	chr21:45836649-45836650	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs202009826	chr21:45836663-45836664	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs9680313	chr21:45836664-45836665	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs112589220	chr21:45836693-45836694	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs562908475	chr21:45836718-45836719	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs192585152	chr21:45836720-45836721	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548553023	chr21:45836736-45836737	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs71772845	chr21:45836741-45836742	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs200114266	chr21:45836759-45836760	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs566991057	chr21:45836761-45836762	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs71787593	chr21:45836781-45836782	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201748754	chr21:45836786-45836787	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs527750581	chr21:45836793-45836794	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs546511887	chr21:45836795-45836796	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs375646716	chr21:45836807-45836808	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs199963418	chr21:45836820-45836821	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs71794657	chr21:45836821-45836822	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs370252881	chr21:45836844-45836845	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs367939806	chr21:45836859-45836860	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs35150425	chr21:45836861-45836862	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs373961410	chr21:45836874-45836875	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs377253123	chr21:45836885-45836886	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs201341125	chr21:45836898-45836899	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs112774281	chr21:45836912-45836913	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs571397088	chr21:45836916-45836917	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs370656782	chr21:45836923-45836924	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs538602910	chr21:45836927-45836928	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs556847840	chr21:45836956-45836957	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs568766005	chr21:45836957-45836958	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	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:57 , 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	chr21:45833800-45836400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr21:45833800-45836400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr21:45834200-45837600	Weak transcription	Esophagus	oesophagus
22	chr21:45834200-45840200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr21:45834400-45836400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr21:45835000-45836600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr21:45835400-45837800	Weak transcription	Thymus	Thymus
26	chr21:45835600-45837600	Weak transcription	Adipose Nuclei	Adipose
27	chr21:45836000-45838600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr21:45836200-45836400	ZNF genes & repeats	GM12878-XiMat	blood
29	chr21:45836200-45836600	ZNF genes & repeats	Fetal Thymus	thymus
30	chr21:45836200-45839800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:45836200-45847800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:45836400-45837400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr21:45836400-45838000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr21:45836400-45838000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr21:45836600-45837400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr21:45837200-45843400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr21:45837400-45839400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr21:45837400-45840400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr21:45837600-45838400	ZNF genes & repeats	Fetal Stomach	stomach
40	chr21:45837600-45838600	Strong transcription	Adipose Nuclei	Adipose
41	chr21:45837800-45839200	ZNF genes & repeats	Fetal Thymus	thymus
42	chr21:45837800-45839800	ZNF genes & repeats	Thymus	Thymus
43	chr21:45838000-45839200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
44	chr21:45838000-45839400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr21:45838000-45839400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr21:45838200-45844800	Weak transcription	Placenta	Placenta
47	chr21:45838400-45838800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr21:45838400-45839800	Strong transcription	Brain Angular Gyrus	brain
49	chr21:45838600-45839200	Enhancers	Right Ventricle	heart
50	chr21:45838600-45839400	Weak transcription	Adipose Nuclei	Adipose

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