Variant report

Variant	rs4816624
Chromosome Location	chr21:40775267-40775268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40773554..40776044-chr21:40776208..40777920,2	K562	blood:
2	chr21:40761004..40764042-chr21:40774509..40776403,3	MCF-7	breast:
3	chr21:40720033..40721956-chr21:40775090..40776858,2	MCF-7	breast:
4	chr21:40764227..40766989-chr21:40774570..40776250,2	K562	blood:
5	chr21:40774564..40776388-chr21:40778753..40780258,2	K562	blood:

Variant related genes	Relation type
ENSG00000205581	Chromatin interaction
ENSG00000182093	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1060180	0.93[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs10775662	0.93[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs13051949	0.88[ASN][1000 genomes]
rs13230	0.88[ASN][1000 genomes]
rs2063999	0.84[CHB][hapmap]
rs2299741	0.88[ASN][1000 genomes]
rs2836995	0.84[CHB][hapmap]
rs2836996	0.85[CHB][hapmap]
rs2836997	0.84[CHB][hapmap]
rs2836998	0.93[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs2836999	0.92[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2837000	0.88[ASN][1000 genomes]
rs2837001	0.88[ASN][1000 genomes]
rs2837002	0.92[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2837005	0.92[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2837006	0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs2837007	0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs2837008	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs3787923	0.88[ASN][1000 genomes]
rs3787924	0.88[ASN][1000 genomes]
rs4818035	0.86[ASN][1000 genomes]
rs4818036	0.85[ASN][1000 genomes]
rs6517547	0.93[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs8131718	0.88[ASN][1000 genomes]
rs9305674	0.88[ASN][1000 genomes]
rs9974828	0.92[CHB][hapmap];0.82[ASN][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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4816624	WRB	cis	intralobular white matter	BrainEAC
rs4816624	WRB	cis	brain	BrainEAC
rs4816624	WRB	cis	occipital cortex	BrainEAC
rs4816624	WRB	cis	hippocampus	BrainEAC

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40761000-40777200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:40761000-40779200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr21:40761000-40782600	Weak transcription	Right Atrium	heart
4	chr21:40764600-40800600	Weak transcription	Psoas Muscle	Psoas
5	chr21:40765200-40780400	Weak transcription	Stomach Mucosa	stomach
6	chr21:40765400-40777800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr21:40765400-40778000	Weak transcription	Colonic Mucosa	Colon
8	chr21:40765400-40778200	Weak transcription	Fetal Brain Male	brain
9	chr21:40765400-40779200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr21:40765400-40780000	Weak transcription	A549	lung
11	chr21:40765600-40777800	Weak transcription	Pancreas	Pancrea
12	chr21:40765600-40778000	Weak transcription	NH-A	brain
13	chr21:40765600-40781200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr21:40765800-40777400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr21:40765800-40777800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:40765800-40778000	Weak transcription	HSMM	muscle
17	chr21:40766800-40776200	Weak transcription	K562	blood
18	chr21:40766800-40777200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:40766800-40777800	Weak transcription	NHDF-Ad	bronchial
20	chr21:40766800-40778000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr21:40766800-40779000	Weak transcription	Right Ventricle	heart
22	chr21:40766800-40783400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr21:40767000-40777800	Weak transcription	HUVEC	blood vessel
24	chr21:40767200-40777800	Weak transcription	Fetal Kidney	kidney
25	chr21:40767200-40778000	Weak transcription	Left Ventricle	heart
26	chr21:40767200-40778200	Weak transcription	Colon Smooth Muscle	Colon
27	chr21:40767200-40779400	Weak transcription	Hela-S3	cervix
28	chr21:40767200-40781000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr21:40767800-40777200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr21:40767800-40777800	Weak transcription	Brain Hippocampus Middle	brain
31	chr21:40767800-40778000	Weak transcription	Aorta	Aorta
32	chr21:40768000-40777200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:40768000-40778000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr21:40768000-40778000	Weak transcription	Fetal Lung	lung
35	chr21:40768000-40779800	Weak transcription	Placenta	Placenta
36	chr21:40768200-40777200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr21:40768200-40777200	Weak transcription	Fetal Intestine Small	intestine
38	chr21:40768200-40777400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr21:40768200-40777800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr21:40768200-40777800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr21:40768200-40781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr21:40768200-40784600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr21:40768400-40777800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr21:40768800-40777800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr21:40768800-40782200	Weak transcription	Fetal Thymus	thymus
46	chr21:40769000-40779400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr21:40769000-40780000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr21:40769200-40777800	Weak transcription	Brain Germinal Matrix	brain
49	chr21:40769400-40783200	Weak transcription	Primary B cells from cord blood	blood
50	chr21:40769800-40777400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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