Variant report

Variant	esv3376461
Chromosome Location	chr21:46321374-46323872
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46320135..46322797-chr21:46323413..46327575,5	K562	blood:
2	chr21:46316977..46318505-chr21:46320167..46321939,2	K562	blood:
3	chr21:46320135..46322797-chr21:46323413..46327575,5	K562	blood:
4	chr21:46322975..46323793-chr21:46347666..46348173,2	MCF-7	breast:
5	chr21:46236410..46239097-chr21:46320402..46324022,3	MCF-7	breast:
6	chr21:46274218..46276249-chr21:46318911..46322162,3	K562	blood:
7	chr21:46256501..46258560-chr21:46321252..46323907,2	MCF-7	breast:
8	chr21:46291242..46294677-chr21:46316286..46321756,7	MCF-7	breast:
9	chr21:46302796..46304799-chr21:46319469..46322179,2	MCF-7	breast:
10	chr21:46291446..46293976-chr21:46322203..46327064,4	MCF-7	breast:
11	chr21:46323100..46323793-chr21:46347666..46348595,2	MCF-7	breast:
12	chr21:46319170..46322090-chr21:46324172..46325775,2	K562	blood:
13	chr21:46222418..46224515-chr21:46321449..46323045,2	MCF-7	breast:
14	chr21:46314850..46316608-chr21:46322131..46323890,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184900	chromatin interactions
ENSG00000183255	chromatin interactions
ENSG00000236519	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375416956	chr21:46321376-46321377	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs73374602	chr21:46321388-46321389	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375487126	chr21:46321391-46321392	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372803374	chr21:46321392-46321393	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs530354496	chr21:46321398-46321399	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs111780009	chr21:46321399-46321400	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs139329623	chr21:46321407-46321408	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs144280462	chr21:46321415-46321416	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs146557638	chr21:46321416-46321417	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs141195302	chr21:46321418-46321419	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs199735877	chr21:46321419-46321420	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs179363873	chr21:46321433-46321434	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs483352814	chr21:46321442-46321443	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs369682384	chr21:46321449-46321450	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs200895955	chr21:46321455-46321456	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs369981986	chr21:46321467-46321468	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs552709121	chr21:46321485-46321486	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs146745379	chr21:46321491-46321492	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs376609171	chr21:46321514-46321515	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs570930598	chr21:46321526-46321527	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs368225700	chr21:46321534-46321535	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs372179082	chr21:46321546-46321547	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs137852610	chr21:46321561-46321562	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs483352813	chr21:46321571-46321572	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs375117940	chr21:46321573-46321574	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs148877937	chr21:46321586-46321587	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs367806842	chr21:46321598-46321599	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs201354969	chr21:46321603-46321604	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs574757270	chr21:46321610-46321611	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs371548080	chr21:46321611-46321612	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs137852614	chr21:46321615-46321616	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs373005167	chr21:46321619-46321620	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs200639854	chr21:46321620-46321621	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs200134130	chr21:46321623-46321624	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs370065147	chr21:46321626-46321627	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs372174688	chr21:46321635-46321636	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs137852612	chr21:46321643-46321644	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs143576179	chr21:46321644-46321645	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs376484884	chr21:46321651-46321652	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs55865320	chr21:46321659-46321660	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs576561314	chr21:46321669-46321670	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs5030669	chr21:46321677-46321678	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs373219481	chr21:46321687-46321688	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs562190988	chr21:46321713-46321714	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs529682162	chr21:46321722-46321723	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs577322614	chr21:46321770-46321771	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs548612513	chr21:46321804-46321805	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs560791894	chr21:46321805-46321806	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs1041457	chr21:46321818-46321819	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs552770470	chr21:46321821-46321822	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46295600-46338800	Weak transcription	Right Atrium	heart
2	chr21:46298400-46326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46305400-46322400	Strong transcription	Dnd41	blood
4	chr21:46305400-46325000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr21:46313800-46324800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr21:46313800-46326600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr21:46313800-46326800	Strong transcription	Fetal Thymus	thymus
8	chr21:46314200-46323000	Strong transcription	Thymus	Thymus
9	chr21:46314400-46322200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr21:46314400-46330200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr21:46314600-46324800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr21:46314800-46321800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr21:46315000-46321600	Weak transcription	Liver	Liver
14	chr21:46315200-46321800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr21:46315800-46322400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr21:46316000-46324400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr21:46316400-46324000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:46316600-46327200	Strong transcription	Primary T cells from cord blood	blood
19	chr21:46317200-46324800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
20	chr21:46317600-46324200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
21	chr21:46317800-46324200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr21:46317800-46325400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr21:46318000-46321600	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr21:46318000-46321800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:46318200-46321400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr21:46318200-46321800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr21:46318200-46321800	Weak transcription	HepG2	liver
28	chr21:46318200-46325000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr21:46318200-46327200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr21:46318400-46325000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr21:46318400-46325000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr21:46318600-46324600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr21:46318800-46321800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr21:46318800-46322800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr21:46319400-46321400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr21:46319400-46322000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr21:46319400-46325800	Weak transcription	Fetal Intestine Small	intestine
38	chr21:46319600-46326800	Genic enhancers	Spleen	Spleen
39	chr21:46320000-46323400	Strong transcription	Primary B cells from cord blood	blood
40	chr21:46320000-46326200	Weak transcription	Fetal Muscle Leg	muscle
41	chr21:46320000-46331000	Weak transcription	Brain Substantia Nigra	brain
42	chr21:46320200-46322000	Weak transcription	HSMMtube	muscle
43	chr21:46320200-46322200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr21:46320400-46321600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr21:46320400-46322000	Weak transcription	Brain Anterior Caudate	brain
46	chr21:46320600-46322000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr21:46320600-46322400	Weak transcription	Colonic Mucosa	Colon
48	chr21:46320800-46321600	Enhancers	Esophagus	oesophagus
49	chr21:46320800-46321800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr21:46320800-46322000	Strong transcription	GM12878-XiMat	blood

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