Variant report

Variant	rs16829716
Chromosome Location	chr3:119062405-119062406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr3:119062317-119062722	GM12878	blood:	n/a	n/a
2	SPI1	chr3:119062326-119063182	GM12878	blood:	n/a	chr3:119062742-119062755 chr3:119062739-119062748 chr3:119062382-119062389

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119041195..119042834-chr3:119061856..119064792,2	MCF-7	breast:
2	chr3:119057410..119059472-chr3:119060813..119062676,2	K562	blood:

Variant related genes	Relation type
RNU6-1127P	TF binding region
ENSG00000241155	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10511389	1.00[ASW][hapmap];0.83[CEU][hapmap];0.82[CHD][hapmap];0.88[MEX][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11918598	0.89[JPT][hapmap]
rs17281577	1.00[ASW][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs58374436	0.83[ASN][1000 genomes]
rs59257245	0.92[ASN][1000 genomes]
rs73854494	0.92[ASN][1000 genomes]
rs9860092	0.83[EUR][1000 genomes];0.90[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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119042800-119070600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:119042800-119072000	Weak transcription	Thymus	Thymus
3	chr3:119043000-119069000	Weak transcription	Primary T cells from cord blood	blood
4	chr3:119046000-119064200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:119046000-119064600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:119048800-119062800	Weak transcription	Osteobl	bone
7	chr3:119049200-119071200	Weak transcription	Aorta	Aorta
8	chr3:119049600-119068000	Weak transcription	NH-A	brain
9	chr3:119050800-119064600	Weak transcription	HSMMtube	muscle
10	chr3:119050800-119075800	Weak transcription	Pancreas	Pancrea
11	chr3:119051000-119064800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:119052000-119064600	Weak transcription	Fetal Intestine Small	intestine
13	chr3:119052600-119064200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:119053200-119064800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:119053200-119087200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:119053400-119064400	Weak transcription	Psoas Muscle	Psoas
17	chr3:119053400-119064400	Weak transcription	Spleen	Spleen
18	chr3:119053400-119068200	Weak transcription	Right Ventricle	heart
19	chr3:119053400-119087000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr3:119053600-119064200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:119053600-119067800	Weak transcription	Fetal Lung	lung
22	chr3:119053600-119071400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:119056400-119064200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:119056400-119067800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:119056400-119068200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:119056400-119071600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:119056600-119064400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:119057000-119064800	Weak transcription	HSMM	muscle
29	chr3:119057800-119068000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:119058000-119064200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:119058200-119064400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:119059800-119064800	Weak transcription	HUVEC	blood vessel
33	chr3:119060200-119064200	Weak transcription	Ovary	ovary
34	chr3:119060200-119064200	Weak transcription	Right Atrium	heart
35	chr3:119060800-119067400	Weak transcription	Fetal Heart	heart
36	chr3:119061200-119064200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr3:119061400-119064200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:119061400-119064400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr3:119061600-119063000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr3:119061600-119064200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:119061600-119064200	Weak transcription	Fetal Muscle Leg	muscle
42	chr3:119062000-119062800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:119062000-119062800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr3:119062000-119063000	Enhancers	Placenta	Placenta
45	chr3:119062000-119063400	Enhancers	GM12878-XiMat	blood
46	chr3:119062200-119062600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:119062200-119062600	Enhancers	Adipose Nuclei	Adipose
48	chr3:119062200-119062800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:119062200-119062800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:119062200-119062800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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