Variant report

Variant	rs4819338
Chromosome Location	chr21:45307025-45307026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45284340..45286488-chr21:45304112..45307404,3	MCF-7	breast:
2	chr21:45305766..45308236-chr21:45323857..45326352,2	K562	blood:
3	chr21:45305650..45307463-chr21:45319282..45321366,2	MCF-7	breast:
4	chr21:45306480..45309508-chr21:45330034..45333269,3	K562	blood:
5	chr21:45307015..45310444-chr21:45311677..45314672,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11700575	0.81[ASW][hapmap];0.92[CEU][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2070546	0.84[CHD][hapmap];0.81[MEX][hapmap]
rs2070548	0.84[CHD][hapmap];0.81[MEX][hapmap]
rs2838433	0.88[CEU][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2838434	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3788075	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4819333	0.80[EUR][1000 genomes]
rs4819337	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4819339	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4819341	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55939443	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58565118	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59355960	0.85[AMR][1000 genomes]
rs60216010	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60316193	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7277520	0.82[JPT][hapmap]
rs7278539	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7279644	0.82[JPT][hapmap]
rs73226931	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs762416	0.82[JPT][hapmap]
rs8132053	0.82[JPT][hapmap]
rs9647250	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9974122	0.80[EUR][1000 genomes]
rs9976132	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	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
4	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45287400-45330200	Weak transcription	Fetal Kidney	kidney
2	chr21:45287600-45307200	Weak transcription	Fetal Brain Male	brain
3	chr21:45288200-45324200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr21:45298400-45312600	Weak transcription	Aorta	Aorta
5	chr21:45298600-45312800	Weak transcription	Primary B cells from cord blood	blood
6	chr21:45300600-45316400	Weak transcription	A549	lung
7	chr21:45300800-45312200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr21:45300800-45312800	Weak transcription	Psoas Muscle	Psoas
9	chr21:45300800-45312800	Weak transcription	Osteobl	bone
10	chr21:45300800-45313200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr21:45301000-45328400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr21:45301400-45312000	Weak transcription	HSMMtube	muscle
13	chr21:45301400-45313400	Weak transcription	HSMM	muscle
14	chr21:45301400-45326000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr21:45303400-45313400	Weak transcription	Thymus	Thymus
16	chr21:45303400-45319000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr21:45304000-45313800	Weak transcription	NHLF	lung
18	chr21:45304400-45312600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr21:45304400-45313000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr21:45304600-45309000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr21:45304600-45309200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr21:45304800-45307200	Weak transcription	Primary T cells from cord blood	blood
23	chr21:45304800-45309200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr21:45304800-45309200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr21:45304800-45309400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr21:45304800-45309400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr21:45304800-45312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr21:45304800-45322200	Weak transcription	Hela-S3	cervix
29	chr21:45304800-45323200	Weak transcription	Colonic Mucosa	Colon
30	chr21:45305000-45307200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr21:45305000-45309000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr21:45305000-45309000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr21:45305000-45309200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr21:45305000-45309200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr21:45305000-45309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:45305000-45312600	Weak transcription	HUVEC	blood vessel
37	chr21:45305000-45313400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr21:45305000-45313800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr21:45305000-45322800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr21:45305000-45328000	Weak transcription	NHEK	skin
41	chr21:45305000-45332600	Weak transcription	Colon Smooth Muscle	Colon
42	chr21:45305200-45308000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr21:45305200-45308800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr21:45305200-45309000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr21:45305200-45309000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr21:45305200-45309000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr21:45305200-45309000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr21:45305200-45309200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr21:45305200-45309400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr21:45305200-45309400	Weak transcription	GM12878-XiMat	blood

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