Variant report

Variant	rs1666310
Chromosome Location	chr3:98485186-98485187
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	EP300	chr3:98480342-98485306	SK-N-SH	brain:	n/a	n/a
2	MAFK	chr3:98485153-98485306	HepG2	liver:	n/a	chr3:98485193-98485204 chr3:98485192-98485206 chr3:98485193-98485204

Variant related genes	Relation type
ST3GAL6	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1666291	0.88[EUR][1000 genomes]
rs278372	0.92[EUR][1000 genomes]
rs704580	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs828600	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription 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	17 gene(s)	inside rSNPs	diseases
4	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98475400-98489400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:98476400-98489400	Weak transcription	HepG2	liver
3	chr3:98477000-98490200	Enhancers	Fetal Heart	heart
4	chr3:98478800-98515200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:98479000-98485800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:98480800-98489400	Weak transcription	Stomach Mucosa	stomach
7	chr3:98481000-98486200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:98482200-98487800	Weak transcription	Fetal Kidney	kidney
9	chr3:98482200-98495800	Weak transcription	Dnd41	blood
10	chr3:98482400-98485600	Weak transcription	Brain Angular Gyrus	brain
11	chr3:98482400-98489000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:98482400-98496000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:98482600-98485200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr3:98482600-98494600	Weak transcription	Aorta	Aorta
15	chr3:98482600-98501800	Weak transcription	Fetal Stomach	stomach
16	chr3:98482800-98497400	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:98483000-98485800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:98483000-98486000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr3:98483000-98497400	Weak transcription	Spleen	Spleen
20	chr3:98483000-98517600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:98483200-98485600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:98483200-98518000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:98483600-98485400	Weak transcription	Right Ventricle	heart
24	chr3:98483600-98489000	Weak transcription	Thymus	Thymus
25	chr3:98483600-98489200	Weak transcription	Lung	lung
26	chr3:98483600-98489200	Weak transcription	Pancreas	Pancrea
27	chr3:98483600-98489200	Weak transcription	Right Atrium	heart
28	chr3:98483600-98495200	Weak transcription	Fetal Thymus	thymus
29	chr3:98483600-98513600	Weak transcription	Brain Germinal Matrix	brain
30	chr3:98483800-98485400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:98483800-98487200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:98483800-98487200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr3:98483800-98487600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr3:98483800-98496400	Weak transcription	Fetal Lung	lung
35	chr3:98483800-98515000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:98484000-98485400	Enhancers	Primary hematopoietic stem cells	blood
37	chr3:98484000-98485400	Weak transcription	Left Ventricle	heart
38	chr3:98484000-98485800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:98484000-98486000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr3:98484000-98487200	Weak transcription	Liver	Liver
41	chr3:98484000-98488200	Weak transcription	GM12878-XiMat	blood
42	chr3:98484000-98489000	Weak transcription	Placenta	Placenta
43	chr3:98484000-98489200	Weak transcription	Psoas Muscle	Psoas
44	chr3:98484000-98498000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr3:98484000-98514000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:98484200-98485800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:98484200-98485800	Weak transcription	Fetal Brain Female	brain
48	chr3:98484200-98487800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr3:98484200-98515200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr3:98484400-98487000	Weak transcription	Brain Hippocampus Middle	brain

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