Variant report

Variant	rs59054920
Chromosome Location	chr21:40781367-40781368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40719170..40722188-chr21:40780437..40783108,3	MCF-7	breast:
2	chr21:40759055..40761616-chr21:40779996..40781570,2	K562	blood:
3	chr21:40780937..40783613-chr21:40817578..40819918,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205581	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000157578	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73365938	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73365940	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73365943	0.82[EUR][1000 genomes]
rs73365944	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1056452	chr21:40741893-40782587	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1063521	chr21:40747754-40790197	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40761000-40782600	Weak transcription	Right Atrium	heart
2	chr21:40764600-40800600	Weak transcription	Psoas Muscle	Psoas
3	chr21:40766800-40783400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr21:40768200-40781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr21:40768200-40784600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr21:40768800-40782200	Weak transcription	Fetal Thymus	thymus
7	chr21:40769400-40783200	Weak transcription	Primary B cells from cord blood	blood
8	chr21:40770200-40785800	Weak transcription	Esophagus	oesophagus
9	chr21:40772600-40786400	Weak transcription	Fetal Heart	heart
10	chr21:40776600-40786200	Weak transcription	K562	blood
11	chr21:40778000-40781400	Strong transcription	Stomach Smooth Muscle	stomach
12	chr21:40778200-40781400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr21:40778200-40783800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr21:40778200-40816600	Weak transcription	Pancreas	Pancrea
15	chr21:40778400-40781400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:40778400-40781400	Strong transcription	Fetal Muscle Leg	muscle
17	chr21:40778400-40781800	Weak transcription	HUVEC	blood vessel
18	chr21:40778400-40782200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:40778400-40782400	Weak transcription	Colonic Mucosa	Colon
20	chr21:40778400-40782800	Weak transcription	Osteobl	bone
21	chr21:40778400-40783000	Weak transcription	HMEC	breast
22	chr21:40778400-40783200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr21:40778400-40784400	Weak transcription	NHDF-Ad	bronchial
24	chr21:40778400-40787200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr21:40778400-40787200	Weak transcription	NHEK	skin
26	chr21:40778400-40787400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr21:40778400-40787400	Weak transcription	HSMM	muscle
28	chr21:40778400-40787800	Weak transcription	Spleen	Spleen
29	chr21:40778400-40788200	Weak transcription	Fetal Brain Male	brain
30	chr21:40778400-40816600	Weak transcription	Left Ventricle	heart
31	chr21:40778600-40781400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr21:40778800-40784400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr21:40779000-40782200	Weak transcription	Colon Smooth Muscle	Colon
34	chr21:40779000-40783800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr21:40779200-40781800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr21:40779200-40782000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr21:40779200-40784800	Weak transcription	Gastric	stomach
38	chr21:40779200-40785800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:40779200-40788800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr21:40779200-40801400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr21:40779800-40781400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr21:40779800-40783400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr21:40779800-40794000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr21:40779800-40794200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr21:40780000-40781600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr21:40780000-40782800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr21:40780000-40782800	Weak transcription	Right Ventricle	heart
48	chr21:40780000-40784400	Weak transcription	Fetal Lung	lung
49	chr21:40780200-40781800	Weak transcription	Hela-S3	cervix
50	chr21:40780200-40784400	Weak transcription	Muscle Satellite Cultured Cells	--

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