Variant report

Variant	esv3417671
Chromosome Location	chr21:46644349-46645100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46639784..46642499-chr21:46642980..46645801,2	K562	blood:
2	chr21:46494100..46496574-chr21:46644222..46646610,2	K562	blood:
3	chr21:46644635..46649401-chr21:46653595..46657283,5	MCF-7	breast:
4	chr21:46617772..46620872-chr21:46645062..46648136,3	K562	blood:
5	chr21:46629095..46632023-chr21:46643087..46645467,2	MCF-7	breast:
6	chr21:46642556..46644415-chr21:46646338..46649203,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197381	chromatin interactions
ENSG00000182586	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567487640	chr21:46644360-46644361	Strong transcription Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs112743154	chr21:46644398-46644399	Strong transcription Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs534873861	chr21:46644401-46644402	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs111932212	chr21:46644417-46644418	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs377010045	chr21:46644427-46644428	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142744195	chr21:46644429-46644430	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113434574	chr21:46644431-46644432	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144719858	chr21:46644450-46644451	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs9980282	chr21:46644454-46644455	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374778042	chr21:46644458-46644459	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs184487292	chr21:46644463-46644464	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9983720	chr21:46644465-46644466	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs9980368	chr21:46644469-46644470	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73233874	chr21:46644473-46644474	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9983731	chr21:46644486-46644487	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
16	rs553319834	chr21:46644510-46644511	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143314847	chr21:46644514-46644515	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112023727	chr21:46644537-46644538	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187669262	chr21:46644560-46644561	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11701974	chr21:46644563-46644564	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112121483	chr21:46644570-46644571	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs199682490	chr21:46644579-46644580	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545418615	chr21:46644580-46644581	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556874886	chr21:46644593-46644594	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372556563	chr21:46644594-46644595	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200230814	chr21:46644599-46644600	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535788849	chr21:46644610-46644611	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560979112	chr21:46644648-46644649	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs201380300	chr21:46644653-46644654	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs142256239	chr21:46644669-46644670	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs566192675	chr21:46644684-46644685	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs11701929	chr21:46644735-46644736	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs112180369	chr21:46644759-46644760	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs550606526	chr21:46644760-46644761	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs569689394	chr21:46644772-46644773	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs374852902	chr21:46644777-46644778	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs149700367	chr21:46644798-46644799	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs113238982	chr21:46644806-46644807	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs190068716	chr21:46644807-46644808	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs534853164	chr21:46644829-46644830	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs547164307	chr21:46644835-46644836	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs148516559	chr21:46644855-46644856	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs372797172	chr21:46644903-46644904	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs571756639	chr21:46644904-46644905	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs539272632	chr21:46644911-46644912	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs377703366	chr21:46644930-46644931	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs557390629	chr21:46644933-46644934	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs575277654	chr21:46644954-46644955	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs534238864	chr21:46644986-46644987	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs201767701	chr21:46644988-46644989	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	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
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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46589000-46646000	Weak transcription	Colonic Mucosa	Colon
2	chr21:46610000-46644800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr21:46610800-46647800	Weak transcription	Brain Angular Gyrus	brain
4	chr21:46611000-46644600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr21:46611000-46645000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr21:46625000-46645000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr21:46628800-46644600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr21:46628800-46644800	Strong transcription	HSMM	muscle
9	chr21:46629600-46645400	Weak transcription	NHLF	lung
10	chr21:46632600-46647000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:46637400-46646000	Strong transcription	Hela-S3	cervix
12	chr21:46637800-46644800	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr21:46637800-46668600	Weak transcription	Right Atrium	heart
14	chr21:46638400-46644400	Strong transcription	Fetal Stomach	stomach
15	chr21:46638400-46646400	Weak transcription	Fetal Intestine Large	intestine
16	chr21:46638600-46646600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr21:46638800-46645000	Weak transcription	NH-A	brain
18	chr21:46639200-46644600	Strong transcription	Stomach Smooth Muscle	stomach
19	chr21:46639600-46644400	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr21:46639800-46646400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr21:46639800-46648000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr21:46640200-46644400	Strong transcription	Lung	lung
23	chr21:46640200-46644600	Strong transcription	Aorta	Aorta
24	chr21:46640200-46645000	Weak transcription	NHEK	skin
25	chr21:46640400-46644400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr21:46640400-46644600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr21:46640400-46644600	Weak transcription	HMEC	breast
28	chr21:46640400-46645800	Strong transcription	HSMMtube	muscle
29	chr21:46640600-46644600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr21:46641000-46648000	Weak transcription	Fetal Brain Male	brain
31	chr21:46641400-46644800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr21:46641400-46645400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr21:46641600-46648400	Weak transcription	Brain Substantia Nigra	brain
34	chr21:46642000-46644400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr21:46642000-46644400	Weak transcription	Liver	Liver
36	chr21:46642000-46648800	Weak transcription	Primary B cells from cord blood	blood
37	chr21:46642200-46645400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr21:46642200-46645400	Weak transcription	Brain Germinal Matrix	brain
39	chr21:46642200-46646000	Weak transcription	Fetal Lung	lung
40	chr21:46642200-46648000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr21:46642400-46645400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr21:46642400-46649200	Weak transcription	Fetal Intestine Small	intestine
43	chr21:46642800-46646200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr21:46642800-46647000	Weak transcription	Dnd41	blood
45	chr21:46642800-46647800	Weak transcription	Brain Hippocampus Middle	brain
46	chr21:46643600-46646200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr21:46643600-46646600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr21:46643600-46649600	Enhancers	Primary T cells fromperipheralblood	blood
49	chr21:46643800-46645600	Weak transcription	Ovary	ovary
50	chr21:46643800-46645800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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