Variant report

Variant	rs1871398
Chromosome Location	chr3:138129356-138129357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1199329	0.86[EUR][1000 genomes]
rs1199332	0.86[EUR][1000 genomes]
rs1564406	0.88[ASN][1000 genomes]
rs1678442	0.86[EUR][1000 genomes]
rs1720823	0.86[EUR][1000 genomes]
rs1720828	1.00[EUR][1000 genomes]
rs1871516	0.84[ASN][1000 genomes]
rs2305269	0.86[EUR][1000 genomes]
rs253661	1.00[EUR][1000 genomes]
rs253663	1.00[EUR][1000 genomes]
rs253665	1.00[EUR][1000 genomes]
rs253667	0.86[EUR][1000 genomes]
rs3773757	1.00[EUR][1000 genomes]
rs40593	1.00[EUR][1000 genomes]
rs4550782	0.88[ASN][1000 genomes]
rs72630192	1.00[EUR][1000 genomes]
rs72630193	1.00[EUR][1000 genomes]
rs7626349	0.86[ASN][1000 genomes]
rs774013	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs796493	0.86[EUR][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	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1845560	chr3:138087467-138133412	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv460864	chr3:138100539-138194435	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv591853	chr3:138100539-138194435	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138109800-138131400	Weak transcription	NHDF-Ad	bronchial
2	chr3:138118000-138131800	Weak transcription	Right Atrium	heart
3	chr3:138123800-138129600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:138123800-138131400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:138124000-138131600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:138124000-138131800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:138124600-138129600	Weak transcription	Lung	lung
8	chr3:138124600-138131800	Weak transcription	Spleen	Spleen
9	chr3:138124600-138136000	Weak transcription	Adipose Nuclei	Adipose
10	chr3:138124800-138130600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:138124800-138131600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:138124800-138131800	Weak transcription	Right Ventricle	heart
13	chr3:138124800-138132200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:138124800-138133000	Weak transcription	Left Ventricle	heart
15	chr3:138125000-138131400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:138125000-138131800	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:138125200-138131400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:138125200-138131600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:138125200-138131600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:138125600-138136000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:138125800-138131400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:138126800-138130000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:138127600-138131400	Weak transcription	HepG2	liver
24	chr3:138128000-138129600	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:138128000-138129600	Enhancers	HSMM	muscle
26	chr3:138128000-138131800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr3:138128000-138132000	Weak transcription	Brain Anterior Caudate	brain
28	chr3:138128000-138136600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:138128200-138129400	Weak transcription	Osteobl	bone
30	chr3:138128200-138131400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:138128200-138132000	Weak transcription	Fetal Heart	heart
32	chr3:138128400-138131600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:138128400-138131800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr3:138128800-138136000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr3:138129000-138130000	Enhancers	K562	blood
36	chr3:138129000-138132800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr3:138129000-138133200	Enhancers	HSMMtube	muscle
38	chr3:138129200-138129400	Enhancers	Gastric	stomach
39	chr3:138129200-138129800	Enhancers	GM12878-XiMat	blood
40	chr3:138129200-138130000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:138129200-138132600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr3:138129200-138136000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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