Variant report

Variant	rs2319741
Chromosome Location	chr3:120120625-120120626
allele	C/T
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	POLR2A	chr3:120120607-120120633	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr3:120120475-120120632	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
FSTL1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12485446	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12489593	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12494182	0.82[AMR][1000 genomes]
rs12497721	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16831032	0.84[AMR][1000 genomes]
rs16831061	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16831074	0.88[AMR][1000 genomes]
rs16831134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17229390	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17229545	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55813294	0.84[AMR][1000 genomes]
rs55871500	0.84[AMR][1000 genomes]
rs61020295	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61140037	0.82[AMR][1000 genomes]
rs73856469	0.82[AMR][1000 genomes]
rs73856480	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv829698	chr3:119960869-120129126	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120112000-120123600	Strong transcription	Osteobl	bone
2	chr3:120112000-120123800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:120112000-120132600	Strong transcription	Placenta Amnion	Placenta Amnion
4	chr3:120112200-120123600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:120112200-120124000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:120112200-120124000	Strong transcription	HSMM	muscle
7	chr3:120112200-120127400	Strong transcription	Left Ventricle	heart
8	chr3:120112200-120130000	Strong transcription	Fetal Muscle Trunk	muscle
9	chr3:120112200-120131400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:120112200-120132600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:120112400-120123600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:120112400-120123800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:120112400-120123800	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr3:120112400-120129600	Strong transcription	Stomach Smooth Muscle	stomach
15	chr3:120112400-120130200	Strong transcription	Adipose Nuclei	Adipose
16	chr3:120112400-120132600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:120112400-120132600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:120112400-120132600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr3:120112400-120132600	Strong transcription	HSMMtube	muscle
20	chr3:120112400-120132600	Strong transcription	NH-A	brain
21	chr3:120112400-120132600	Strong transcription	NHDF-Ad	bronchial
22	chr3:120112400-120132600	Strong transcription	NHLF	lung
23	chr3:120112600-120122600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:120112600-120123000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:120112600-120130600	Strong transcription	Ovary	ovary
26	chr3:120112600-120131400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:120112600-120132400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:120112600-120132400	Strong transcription	Aorta	Aorta
29	chr3:120112600-120132600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:120112600-120132600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:120112600-120132800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:120112800-120123600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:120112800-120131200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:120112800-120132000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:120112800-120132600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:120112800-120132600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:120113200-120122600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:120113200-120122600	Strong transcription	HMEC	breast
39	chr3:120113200-120127400	Strong transcription	Fetal Muscle Leg	muscle
40	chr3:120113200-120132400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:120113200-120132600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:120113200-120132600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:120113200-120132600	Strong transcription	Fetal Kidney	kidney
44	chr3:120113200-120132600	Strong transcription	HUVEC	blood vessel
45	chr3:120113200-120133000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:120113400-120122400	Strong transcription	Lung	lung
47	chr3:120113400-120122600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:120113400-120126400	Strong transcription	Right Ventricle	heart
49	chr3:120113400-120126800	Strong transcription	Placenta	Placenta
50	chr3:120113400-120132400	Strong transcription	H9 Cell Line	embryonic stem cell

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