Variant report

Variant	rs33988810
Chromosome Location	chr3:150103642-150103643
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150101451..150104370-chr3:150105337..150109927,7	K562	blood:
2	chr3:150103049..150105345-chr3:150109294..150110988,2	MCF-7	breast:
3	chr3:150101054..150103942-chr3:150125603..150131015,6	K562	blood:
4	chr3:150090383..150092393-chr3:150101374..150104090,2	K562	blood:
5	chr3:150093390..150097610-chr3:150100766..150105118,7	MCF-7	breast:
6	chr3:150101273..150104730-chr3:150121434..150128062,8	K562	blood:
7	chr3:150102544..150105170-chr3:150106754..150108675,2	K562	blood:
8	chr3:150101805..150104730-chr3:150121434..150125041,3	K562	blood:
9	chr3:150103102..150105201-chr3:150113061..150115315,2	K562	blood:
10	chr3:150100542..150102255-chr3:150102482..150105071,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196428	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11706784	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11719654	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12054166	0.96[ASN][1000 genomes]
rs13069723	0.88[ASN][1000 genomes]
rs13092207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13092341	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16862648	0.88[ASN][1000 genomes]
rs2068659	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28517277	0.81[ASN][1000 genomes]
rs34192407	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34384576	0.88[ASN][1000 genomes]
rs34518530	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34616287	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34991086	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35704634	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35725711	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35982655	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56040746	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62269065	0.88[ASN][1000 genomes]
rs6763024	0.84[ASN][1000 genomes]
rs9682043	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
2	chr3:150090800-150107000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:150090800-150108600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:150090800-150111000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:150090800-150111000	Weak transcription	NHEK	skin
6	chr3:150094600-150106200	Weak transcription	HSMM	muscle
7	chr3:150094600-150108800	Weak transcription	NHLF	lung
8	chr3:150094800-150108200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:150096000-150105200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:150096200-150108400	Weak transcription	A549	lung
11	chr3:150097800-150111200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:150102200-150103800	Enhancers	Fetal Thymus	thymus
13	chr3:150102400-150104000	Flanking Active TSS	GM12878-XiMat	blood
14	chr3:150102800-150103800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:150102800-150103800	Enhancers	Primary B cells from cord blood	blood
16	chr3:150102800-150103800	Enhancers	K562	blood
17	chr3:150102800-150111400	Weak transcription	Fetal Intestine Large	intestine
18	chr3:150102800-150118200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:150103000-150103800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:150103000-150103800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:150103000-150103800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr3:150103000-150103800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:150103000-150103800	Enhancers	Thymus	Thymus
24	chr3:150103000-150104000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr3:150103000-150104800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:150103200-150103800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:150103200-150103800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr3:150103200-150103800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr3:150103200-150103800	Enhancers	Primary T cells from cord blood	blood
30	chr3:150103200-150103800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr3:150103200-150103800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:150103200-150103800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr3:150103200-150104000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr3:150103200-150106800	Weak transcription	Fetal Heart	heart
35	chr3:150103400-150103800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:150103400-150103800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr3:150103400-150104000	Enhancers	Primary B cells from peripheral blood	blood
38	chr3:150103400-150104000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr3:150103600-150103800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr3:150103600-150103800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr3:150103600-150103800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr3:150103600-150103800	Weak transcription	Left Ventricle	heart
43	chr3:150103600-150103800	Enhancers	Small Intestine	intestine
44	chr3:150103600-150103800	Enhancers	Hela-S3	cervix
45	chr3:150103600-150103800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr3:150103600-150106800	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:150103600-150112200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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