Variant report

Variant	rs12054156
Chromosome Location	chr3:141116870-141116871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:141116570-141117041	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:141114431-141116924	U87	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141114505..141117008-chr3:141133562..141135723,2	K562	blood:
2	chr3:141115976..141119088-chr3:141122527..141125160,3	MCF-7	breast:
3	chr3:141089088..141091263-chr3:141115088..141117204,2	K562	blood:
4	chr3:141078683..141080733-chr3:141115929..141118678,2	MCF-7	breast:
5	chr3:141116150..141118780-chr3:141120095..141122979,2	K562	blood:

No data

Variant related genes	Relation type
ZBTB38	TF binding region
ENSG00000177311	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11919595	1.00[ASN][1000 genomes]
rs12633093	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16851419	1.00[ASN][1000 genomes]
rs16851423	0.83[AMR][1000 genomes]
rs4683604	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73872715	1.00[ASN][1000 genomes]
rs73872725	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141106000-141117000	Strong transcription	Fetal Intestine Large	intestine
2	chr3:141106000-141119000	Weak transcription	Colonic Mucosa	Colon
3	chr3:141106800-141119200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:141108400-141118200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:141108400-141118600	Weak transcription	Small Intestine	intestine
6	chr3:141110400-141118000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr3:141111600-141118000	Weak transcription	Pancreas	Pancrea
8	chr3:141111600-141120800	Weak transcription	Gastric	stomach
9	chr3:141112000-141119000	Weak transcription	Fetal Heart	heart
10	chr3:141112400-141117000	Strong transcription	A549	lung
11	chr3:141112400-141120000	Weak transcription	Brain Germinal Matrix	brain
12	chr3:141112600-141120400	Weak transcription	Fetal Stomach	stomach
13	chr3:141112600-141120600	Weak transcription	Lung	lung
14	chr3:141112800-141119200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:141112800-141120400	Weak transcription	Hela-S3	cervix
16	chr3:141112800-141120600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:141112800-141120600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:141112800-141120800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:141113200-141117400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:141113200-141119600	Strong transcription	HSMM	muscle
21	chr3:141113400-141117000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:141113400-141118200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:141113600-141117400	Strong transcription	Placenta	Placenta
24	chr3:141113800-141118600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:141114000-141117400	ZNF genes & repeats	GM12878-XiMat	blood
26	chr3:141114000-141117400	Strong transcription	NH-A	brain
27	chr3:141114000-141118200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr3:141114400-141118000	Weak transcription	Stomach Mucosa	stomach
29	chr3:141114600-141117000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr3:141114600-141117000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:141114600-141117000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr3:141114800-141117000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:141114800-141117000	Strong transcription	HUVEC	blood vessel
34	chr3:141115000-141117200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:141115200-141117000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:141115200-141117000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:141115200-141117000	Strong transcription	Left Ventricle	heart
38	chr3:141115200-141117200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:141115400-141117000	Strong transcription	NHDF-Ad	bronchial
40	chr3:141115800-141117800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:141116000-141118200	Weak transcription	Adipose Nuclei	Adipose
42	chr3:141116000-141119200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:141116000-141119400	Weak transcription	Brain Angular Gyrus	brain
44	chr3:141116000-141120600	Weak transcription	Right Ventricle	heart
45	chr3:141116200-141117000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:141116200-141117000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:141116200-141118000	Weak transcription	Aorta	Aorta
48	chr3:141116200-141118000	Weak transcription	Ovary	ovary
49	chr3:141116200-141118000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr3:141116200-141118200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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