Variant report

Variant	rs13427251
Chromosome Location	chr2:100166454-100166455
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11123787	0.90[AFR][1000 genomes]
rs1901284	0.84[EUR][1000 genomes]
rs6746402	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13427251	REV1	Cis_1M	lymphoblastoid	RTeQTL
rs13427251	LIPT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100158600-100189200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:100159000-100173400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:100159400-100166800	Weak transcription	Spleen	Spleen
4	chr2:100159400-100167000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:100160200-100166600	Weak transcription	Fetal Stomach	stomach
6	chr2:100160200-100166600	Weak transcription	Fetal Thymus	thymus
7	chr2:100160200-100166800	Weak transcription	Fetal Lung	lung
8	chr2:100161000-100172400	Strong transcription	Primary B cells from cord blood	blood
9	chr2:100161000-100181600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:100161200-100190200	Weak transcription	Right Atrium	heart
11	chr2:100161400-100168400	Weak transcription	Left Ventricle	heart
12	chr2:100161600-100166800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:100161600-100172800	Weak transcription	Brain Anterior Caudate	brain
14	chr2:100161800-100166600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:100161800-100166800	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:100161800-100187800	Weak transcription	Brain Angular Gyrus	brain
17	chr2:100161800-100211200	Weak transcription	Fetal Kidney	kidney
18	chr2:100162000-100166600	Weak transcription	Aorta	Aorta
19	chr2:100162000-100174400	Strong transcription	Primary T cells from cord blood	blood
20	chr2:100162200-100166600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:100162200-100169000	Weak transcription	Fetal Heart	heart
22	chr2:100162400-100166600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:100162400-100166800	Weak transcription	NH-A	brain
24	chr2:100162400-100167200	Weak transcription	Brain Germinal Matrix	brain
25	chr2:100162400-100170800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:100162400-100171800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:100162600-100193400	Weak transcription	Liver	Liver
28	chr2:100162800-100219200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr2:100163000-100167400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:100163200-100166800	Weak transcription	Dnd41	blood
31	chr2:100163200-100167000	Weak transcription	Fetal Brain Male	brain
32	chr2:100163200-100203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:100163600-100166600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:100163600-100171000	Weak transcription	Fetal Intestine Small	intestine
35	chr2:100163800-100166800	Weak transcription	Ovary	ovary
36	chr2:100163800-100174800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:100164000-100204800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:100164400-100172000	Weak transcription	Right Ventricle	heart
39	chr2:100164400-100172400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:100164800-100167200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:100164800-100170800	Strong transcription	Primary hematopoietic stem cells	blood
42	chr2:100165000-100166800	Weak transcription	Lung	lung
43	chr2:100165000-100170800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:100165200-100167800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:100165200-100175400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:100165200-100190000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:100165400-100167600	Weak transcription	Gastric	stomach
48	chr2:100165400-100170800	Weak transcription	Pancreas	Pancrea
49	chr2:100165400-100171400	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:100165600-100167000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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