Variant report

Variant	rs13126694
Chromosome Location	chr4:159098784-159098785
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	GATA3	chr4:159098568-159099223	T-47D	breast:	n/a	chr4:159099144-159099151
2	GATA3	chr4:159098773-159099249	T-47D	breast:	n/a	chr4:159099144-159099151

Variant related genes	Relation type
FAM198B	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10003459	0.81[CHB][hapmap]
rs2346782	0.85[AMR][1000 genomes]
rs4388135	0.81[CHB][hapmap]
rs4691460	0.84[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6814979	0.81[CHB][hapmap];0.91[MEX][hapmap]
rs6830475	0.84[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6833295	0.87[CHB][hapmap];0.85[AMR][1000 genomes]
rs6843728	0.81[CHB][hapmap]
rs7692254	0.81[CHB][hapmap];0.91[MEX][hapmap]
rs9968557	0.81[CHB][hapmap]

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	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1021067	chr4:158972282-159175475	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13126694	DKFZp434L142	cis	multi-tissue	Pritchard

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:159092600-159104000	Weak transcription	Lung	lung
2	chr4:159093800-159100000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:159094200-159099200	Weak transcription	Placenta	Placenta
4	chr4:159094400-159103200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:159094600-159098800	Enhancers	Adipose Nuclei	Adipose
6	chr4:159094600-159098800	Enhancers	Fetal Intestine Large	intestine
7	chr4:159094800-159100000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:159095000-159100400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:159095000-159103200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:159095400-159099600	Weak transcription	Brain Substantia Nigra	brain
11	chr4:159095800-159113800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:159096200-159103200	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:159096400-159099200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:159096400-159100800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:159096400-159107400	Weak transcription	HSMMtube	muscle
16	chr4:159096400-159113600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:159096400-159131200	Weak transcription	Right Ventricle	heart
18	chr4:159096400-159131200	Weak transcription	HepG2	liver
19	chr4:159097200-159098800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:159097400-159098800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr4:159097800-159099200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:159097800-159099400	Weak transcription	Aorta	Aorta
23	chr4:159097800-159100200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:159097800-159100200	Weak transcription	Right Atrium	heart
25	chr4:159097800-159101000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:159097800-159103200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:159097800-159103200	Weak transcription	Left Ventricle	heart
28	chr4:159097800-159122400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr4:159098000-159099800	Strong transcription	HSMM	muscle
30	chr4:159098000-159099800	Weak transcription	HUVEC	blood vessel
31	chr4:159098000-159102200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr4:159098400-159099000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:159098400-159099200	Weak transcription	Ovary	ovary
34	chr4:159098400-159099800	Weak transcription	HMEC	breast
35	chr4:159098400-159103200	Weak transcription	Brain Angular Gyrus	brain
36	chr4:159098400-159103200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:159098400-159110200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr4:159098400-159122800	Weak transcription	Fetal Intestine Small	intestine
39	chr4:159098600-159098800	Enhancers	Pancreas	Pancrea
40	chr4:159098600-159098800	Enhancers	Stomach Mucosa	stomach

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