Variant report

Variant	rs562916561
Chromosome Location	chr21:45394888-45394889
allele	C/T
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45358600..45359641-chr21:45394697..45395938,6	MCF-7	breast:
2	chr21:45194764..45197470-chr21:45392399..45395050,2	MCF-7	breast:
3	chr21:45229733..45231938-chr21:45394132..45396009,2	K562	blood:
4	chr21:45227305..45229714-chr21:45393817..45396583,3	K562	blood:
5	chr21:45390476..45393166-chr21:45393440..45395643,4	MCF-7	breast:
6	chr21:45349394..45350688-chr21:45394837..45395974,5	MCF-7	breast:
7	chr21:45283111..45285843-chr21:45394745..45397067,2	K562	blood:
8	chr21:45358568..45359567-chr21:45394821..45396082,11	MCF-7	breast:
9	chr21:45371594..45373421-chr21:45394016..45396478,2	K562	blood:
10	chr21:45393503..45396203-chr21:45397849..45399605,2	MCF-7	breast:
11	chr21:45394026..45396838-chr21:45529562..45532299,2	K562	blood:
12	chr21:45392942..45395258-chr21:45429589..45432675,3	K562	blood:
13	chr21:45283359..45286168-chr21:45393424..45395438,2	K562	blood:
14	chr21:45393130..45395112-chr21:45407277..45409504,2	K562	blood:
15	chr21:45386923..45389189-chr21:45394639..45396449,2	K562	blood:
16	chr21:45224876..45229128-chr21:45393312..45396699,5	K562	blood:
17	chr21:45224259..45226376-chr21:45393066..45395792,2	K562	blood:
18	chr21:45222905..45225247-chr21:45394812..45396880,2	MCF-7	breast:
19	chr21:45286741..45288311-chr21:45392655..45395411,2	K562	blood:
20	chr21:45394072..45397426-chr21:45398939..45402016,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000215458	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv3337810	chr21:45392724-45396322	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3352585	chr21:45392724-45396422	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3343048	chr21:45392824-45397222	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv3361528	chr21:45393774-45396272	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45373000-45395200	Strong transcription	Fetal Intestine Small	intestine
2	chr21:45375200-45395400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:45377000-45398400	Weak transcription	A549	lung
4	chr21:45377000-45400800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr21:45378200-45395000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr21:45378200-45403800	Strong transcription	Dnd41	blood
7	chr21:45378400-45395000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr21:45378600-45400800	Weak transcription	NH-A	brain
9	chr21:45378800-45395000	Strong transcription	Duodenum Mucosa	Duodenum
10	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
11	chr21:45379000-45406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr21:45379600-45405000	Weak transcription	NHDF-Ad	bronchial
13	chr21:45380200-45395000	Weak transcription	HMEC	breast
14	chr21:45380400-45399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr21:45381600-45400800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr21:45381800-45395000	Weak transcription	Fetal Kidney	kidney
17	chr21:45382000-45402600	Weak transcription	Small Intestine	intestine
18	chr21:45383200-45405400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr21:45383200-45405400	Weak transcription	Hela-S3	cervix
20	chr21:45383400-45398000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr21:45383400-45405200	Weak transcription	HUVEC	blood vessel
22	chr21:45387600-45401400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr21:45389600-45401200	Weak transcription	Psoas Muscle	Psoas
24	chr21:45390600-45395000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr21:45391600-45406800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:45391800-45395000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr21:45391800-45395200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr21:45391800-45399800	Weak transcription	Primary B cells from cord blood	blood
29	chr21:45392000-45395200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:45392000-45395200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr21:45392000-45395200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr21:45392000-45406800	Weak transcription	NHEK	skin
33	chr21:45392200-45397800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:45392200-45398400	Weak transcription	Colonic Mucosa	Colon
35	chr21:45392600-45395200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr21:45392600-45397800	Weak transcription	Colon Smooth Muscle	Colon
37	chr21:45392800-45395000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr21:45392800-45396600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr21:45392800-45398000	Weak transcription	Osteobl	bone
40	chr21:45393000-45395200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr21:45393000-45395200	Weak transcription	HSMM	muscle
42	chr21:45393000-45397200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr21:45393000-45397800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr21:45393000-45405200	Weak transcription	HepG2	liver
45	chr21:45393200-45395000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr21:45393200-45395000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr21:45393200-45395200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr21:45393200-45397000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr21:45393200-45397200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr21:45393200-45397200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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