Variant report

Variant	rs344022
Chromosome Location	chr3:156499390-156499391
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:156497858..156501596-chr3:156502537..156507306,7	K562	blood:
2	chr3:156497492..156500885-chr3:156532144..156534276,3	K562	blood:
3	chr3:156487583..156490581-chr3:156498612..156500239,2	MCF-7	breast:
4	chr3:156495724..156497508-chr3:156498193..156500203,2	MCF-7	breast:
5	chr3:156498565..156501614-chr3:156533587..156536301,3	MCF-7	breast:
6	chr3:156491310..156495607-chr3:156498419..156501003,3	K562	blood:
7	chr3:156498174..156501165-chr3:156515710..156519959,5	K562	blood:
8	chr3:156498434..156501596-chr3:156502537..156507306,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000240875	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12486016	1.00[CHB][hapmap]
rs12493566	1.00[CHB][hapmap]
rs12497720	1.00[CHB][hapmap]
rs171079	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193196	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2054880	0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs34354387	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343993	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343994	0.81[AFR][1000 genomes]
rs344019	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344024	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344051	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637242	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680293	1.00[CHB][hapmap]
rs6781237	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614210	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs88053	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv428745	chr3:156405054-156577840	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv877685	chr3:156444383-156611676	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv877686	chr3:156489509-156557697	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156494600-156510800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr3:156495200-156499400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:156495400-156500800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:156496200-156501400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:156497200-156499800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:156498800-156499600	Enhancers	Hela-S3	cervix
7	chr3:156498800-156501800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:156499000-156499400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:156499000-156499400	Enhancers	NHEK	skin
10	chr3:156499000-156499800	Enhancers	HMEC	breast
11	chr3:156499000-156500000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:156499000-156500400	Enhancers	Stomach Mucosa	stomach
13	chr3:156499000-156502400	Enhancers	NHDF-Ad	bronchial
14	chr3:156499000-156502400	Enhancers	Osteobl	bone
15	chr3:156499000-156507400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:156499200-156499600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:156499200-156499800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:156499200-156499800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr3:156499200-156500000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:156499200-156500000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:156499200-156500000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr3:156499200-156500000	Flanking Active TSS	A549	lung
23	chr3:156499200-156500200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr3:156499200-156500200	Flanking Active TSS	K562	blood
25	chr3:156499200-156501800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:156499200-156502200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:156499200-156502200	Enhancers	NH-A	brain
28	chr3:156499200-156502400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:156499200-156503200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:156499200-156503200	Enhancers	HUVEC	blood vessel

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