Variant report

Variant	rs12694869
Chromosome Location	chr2:231315823-231315824
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10165012	1.00[CHB][hapmap]
rs10170241	1.00[CHB][hapmap]
rs10207273	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694864	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12694866	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694867	1.00[CHD][hapmap]
rs12694868	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13000381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413034	1.00[CHD][hapmap]
rs6707444	1.00[CHB][hapmap]
rs6710287	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6710297	1.00[CHD][hapmap]
rs6742304	1.00[CHB][hapmap]
rs7423615	1.00[CHD][hapmap]

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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv584672	chr2:231289976-231348888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231288800-231319000	Weak transcription	Fetal Kidney	kidney
2	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
3	chr2:231301800-231345000	Weak transcription	A549	lung
4	chr2:231303200-231317200	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr2:231304400-231320800	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:231306600-231323400	Weak transcription	K562	blood
7	chr2:231306800-231318200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:231307400-231317600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:231307400-231318200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:231307400-231321800	Strong transcription	Liver	Liver
11	chr2:231307600-231316600	Strong transcription	Primary hematopoietic stem cells	blood
12	chr2:231307600-231318200	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr2:231307600-231319600	Strong transcription	Dnd41	blood
14	chr2:231307600-231336600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr2:231307800-231318400	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:231308200-231316000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:231308400-231318000	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr2:231308600-231318000	Strong transcription	Osteobl	bone
19	chr2:231308600-231318200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:231308800-231316200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:231308800-231316200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:231308800-231320800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:231308800-231337000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:231308800-231337400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:231309400-231316000	Strong transcription	NHLF	lung
26	chr2:231309600-231336800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:231309800-231316000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:231310000-231316600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:231310800-231321800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:231311000-231316600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:231311400-231324800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:231311600-231316400	Strong transcription	Colon Smooth Muscle	Colon
33	chr2:231311600-231321000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:231312400-231337000	Weak transcription	HepG2	liver
35	chr2:231312400-231337200	Weak transcription	Hela-S3	cervix
36	chr2:231313200-231318400	Strong transcription	Adipose Nuclei	Adipose
37	chr2:231313600-231317600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:231313600-231318400	Strong transcription	Primary T cells from cord blood	blood
39	chr2:231313600-231319800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:231313600-231319800	Weak transcription	NH-A	brain
41	chr2:231313800-231318400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:231314000-231316000	Strong transcription	Fetal Lung	lung
43	chr2:231314000-231317200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:231314000-231320000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:231314200-231316800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr2:231314400-231316800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
47	chr2:231314600-231321600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr2:231314600-231321600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:231314600-231322400	ZNF genes & repeats	GM12878-XiMat	blood
50	chr2:231314800-231316600	Weak transcription	Brain Substantia Nigra	brain

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