Variant report

Variant	rs1868164
Chromosome Location	chr3:134369420-134369421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1447691	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1823217	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1982353	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7636265	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7637801	0.94[ASN][1000 genomes]
rs766492	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9818188	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9883955	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][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	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv3343656	chr3:134368312-134371210	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134361600-134369600	Weak transcription	Pancreas	Pancrea
2	chr3:134367000-134369800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr3:134368200-134371200	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr3:134368400-134371800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr3:134368600-134369600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr3:134368600-134370200	Active TSS	Rectal Smooth Muscle	rectum
7	chr3:134368800-134369600	Flanking Active TSS	Osteobl	bone
8	chr3:134368800-134370200	Active TSS	Brain Angular Gyrus	brain
9	chr3:134368800-134370200	Active TSS	Brain Hippocampus Middle	brain
10	chr3:134368800-134370200	Active TSS	Brain Substantia Nigra	brain
11	chr3:134369000-134370000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:134369000-134370400	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr3:134369000-134370600	Active TSS	Colon Smooth Muscle	Colon
14	chr3:134369000-134370600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr3:134369000-134370800	Active TSS	Brain Anterior Caudate	brain
16	chr3:134369200-134369600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr3:134369200-134369600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:134369200-134369600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr3:134369200-134369600	Flanking Active TSS	Right Ventricle	heart
20	chr3:134369200-134369600	Flanking Active TSS	NH-A	brain
21	chr3:134369200-134370000	Active TSS	Muscle Satellite Cultured Cells	--
22	chr3:134369200-134370000	Active TSS	Left Ventricle	heart
23	chr3:134369200-134370200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:134369200-134370200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr3:134369200-134370200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr3:134369200-134370200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr3:134369200-134370200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:134369200-134370200	Active TSS	Brain Cingulate Gyrus	brain
29	chr3:134369200-134370200	Active TSS	Duodenum Mucosa	Duodenum
30	chr3:134369200-134370200	Active TSS	Fetal Intestine Small	intestine
31	chr3:134369200-134370200	Active TSS	Psoas Muscle	Psoas
32	chr3:134369200-134370400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr3:134369200-134370400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
34	chr3:134369200-134370400	Enhancers	Spleen	Spleen
35	chr3:134369200-134370600	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr3:134369200-134370800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:134369200-134370800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:134369200-134370800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr3:134369200-134370800	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr3:134369200-134371000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:134369200-134371000	Enhancers	Lung	lung
42	chr3:134369400-134369600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:134369400-134369600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:134369400-134369600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
45	chr3:134369400-134369600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:134369400-134369600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:134369400-134369600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
48	chr3:134369400-134369600	Bivalent Enhancer	Fetal Brain Male	brain
49	chr3:134369400-134369600	Flanking Active TSS	HSMMtube	muscle
50	chr3:134369400-134369600	Flanking Bivalent TSS/Enh	NHEK	skin

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