Variant report

Variant	rs2731886
Chromosome Location	chr5:36606009-36606010
allele	A/C
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	STAT3	chr5:36605865-36607753	MCF10A-Er-Src	breast:	n/a	chr5:36606360-36606368 chr5:36607440-36607448 chr5:36606626-36606637 chr5:36606641-36606653
2	ZNF263	chr5:36605965-36607640	HEK293-T-REx	kidney:	n/a	chr5:36606662-36606671 chr5:36606629-36606650 chr5:36606612-36606621

Variant related genes	Relation type
SLC1A3	TF binding region

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

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

rs_ID	r²[population]
rs10078147	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13436644	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1428972	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2562575	1.00[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2562576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2562577	1.00[CEU][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2562578	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2562579	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2562580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2562581	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2731878	1.00[CEU][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2731879	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs2731883	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2731884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3814068	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4591778	0.92[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881025	chr5:36575021-36613053	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2762516	chr5:36599385-36613201	Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36591200-36606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:36597000-36606200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:36602000-36606200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:36602200-36606200	Weak transcription	Pancreas	Pancrea
5	chr5:36603400-36606200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:36603400-36606200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:36603400-36606200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:36603600-36606200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:36603600-36606200	Weak transcription	Left Ventricle	heart
10	chr5:36604600-36606200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:36604800-36612000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr5:36605000-36606200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:36605400-36606400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:36605400-36606400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:36605400-36607000	Bivalent/Poised TSS	Fetal Brain Male	brain
16	chr5:36605400-36608200	Active TSS	NHDF-Ad	bronchial
17	chr5:36605400-36608400	Active TSS	Brain Anterior Caudate	brain
18	chr5:36605400-36612800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:36605600-36606200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr5:36605600-36608600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:36605600-36609800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:36605600-36609800	Active TSS	Brain Hippocampus Middle	brain
23	chr5:36605800-36606200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:36605800-36606200	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr5:36605800-36606200	Flanking Active TSS	HMEC	breast
26	chr5:36605800-36606400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:36605800-36607800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:36605800-36608000	Active TSS	Fetal Muscle Leg	muscle
29	chr5:36605800-36608200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:36605800-36608200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:36605800-36608600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr5:36605800-36611200	Active TSS	Right Atrium	heart
33	chr5:36606000-36606200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:36606000-36606200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr5:36606000-36606200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:36606000-36606200	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr5:36606000-36606200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
38	chr5:36606000-36606200	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr5:36606000-36606200	Enhancers	Brain Germinal Matrix	brain
40	chr5:36606000-36606200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
41	chr5:36606000-36606200	Bivalent Enhancer	Fetal Kidney	kidney
42	chr5:36606000-36606200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr5:36606000-36606200	Flanking Active TSS	GM12878-XiMat	blood
44	chr5:36606000-36606200	Flanking Active TSS	HSMM	muscle
45	chr5:36606000-36606200	Flanking Active TSS	NHEK	skin
46	chr5:36606000-36606200	Flanking Active TSS	Osteobl	bone
47	chr5:36606000-36606400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:36606000-36606400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr5:36606000-36606400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr5:36606000-36606400	Flanking Active TSS	Fetal Brain Female	brain

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