Variant report

Variant	rs419322
Chromosome Location	chr21:46551702-46551703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46550409..46551930-chr21:46569679..46571872,2	MCF-7	breast:
2	chr21:46386181..46388411-chr21:46549880..46552492,2	MCF-7	breast:
3	chr21:46491911..46497737-chr21:46547142..46552694,13	K562	blood:
4	chr21:46544212..46547881-chr21:46548757..46552730,5	K562	blood:
5	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
6	chr21:46532796..46535414-chr21:46551102..46553894,2	K562	blood:

Variant related genes	Relation type
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000267857	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2838817	0.84[MEX][hapmap]
rs373687	0.89[GIH][hapmap]
rs400140	0.92[GIH][hapmap];0.89[JPT][hapmap]
rs414743	1.00[ASW][hapmap];0.95[CEU][hapmap];0.94[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs421619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4819027	0.93[AMR][1000 genomes]
rs4819035	0.84[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv522002	chr21:46542670-46551702	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs419322	LOC642852	Cis_1M	lymphoblastoid	RTeQTL
rs419322	HSF2BP	cis	parietal	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46529800-46554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr21:46530400-46554600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr21:46530800-46554600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr21:46532600-46552400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr21:46532600-46570600	Weak transcription	Dnd41	blood
6	chr21:46538800-46552200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr21:46541800-46552400	Weak transcription	Fetal Brain Male	brain
8	chr21:46544200-46558200	Weak transcription	HepG2	liver
9	chr21:46544200-46560400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr21:46544400-46552400	Weak transcription	Thymus	Thymus
11	chr21:46545000-46554800	Enhancers	Fetal Muscle Leg	muscle
12	chr21:46545600-46553200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr21:46546600-46554600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr21:46546800-46552800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr21:46546800-46555200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr21:46547200-46552400	Weak transcription	Primary T cells from cord blood	blood
17	chr21:46548200-46553400	Enhancers	Colon Smooth Muscle	Colon
18	chr21:46548200-46553600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr21:46548400-46551800	Enhancers	Rectal Smooth Muscle	rectum
20	chr21:46548600-46551800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr21:46548600-46552200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr21:46548600-46552600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr21:46548600-46554000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr21:46548600-46554400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr21:46548600-46571600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr21:46548800-46554800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr21:46548800-46558400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr21:46549800-46553000	Weak transcription	Esophagus	oesophagus
29	chr21:46549800-46554600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr21:46549800-46554800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr21:46549800-46557200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr21:46549800-46559400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:46549800-46567600	Weak transcription	Gastric	stomach
34	chr21:46550000-46552400	Weak transcription	Placenta	Placenta
35	chr21:46550000-46552800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr21:46550000-46552800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr21:46550000-46553400	Weak transcription	Brain Substantia Nigra	brain
38	chr21:46550000-46555800	Weak transcription	Aorta	Aorta
39	chr21:46550000-46567800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr21:46550200-46552600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:46550200-46552600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr21:46550200-46552800	Weak transcription	Right Atrium	heart
43	chr21:46550200-46553800	Enhancers	Fetal Muscle Trunk	muscle
44	chr21:46550400-46552400	Weak transcription	Brain Hippocampus Middle	brain
45	chr21:46550400-46571200	Weak transcription	Brain Germinal Matrix	brain
46	chr21:46550600-46552800	Weak transcription	Stomach Mucosa	stomach
47	chr21:46550800-46551800	Enhancers	Ovary	ovary
48	chr21:46550800-46551800	Enhancers	Stomach Smooth Muscle	stomach
49	chr21:46550800-46551800	Enhancers	NH-A	brain
50	chr21:46550800-46552800	Enhancers	HSMMtube	muscle

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