Variant report

Variant	rs2345714
Chromosome Location	chr22:28508025-28508026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12157518	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12160232	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16986103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16986290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28462248	0.98[ASN][1000 genomes]
rs55961693	0.98[ASN][1000 genomes]
rs5997341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997355	0.86[ASN][1000 genomes]
rs6005697	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6005724	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6005726	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005733	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005735	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6005757	0.86[ASN][1000 genomes]
rs6005758	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6005765	0.90[ASN][1000 genomes]
rs73427747	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7510988	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28485800-28508600	Weak transcription	Brain Substantia Nigra	brain
2	chr22:28486400-28508600	Weak transcription	Psoas Muscle	Psoas
3	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr22:28489000-28508200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr22:28489800-28508400	Weak transcription	Small Intestine	intestine
6	chr22:28495000-28508400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr22:28495000-28508400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:28495000-28508600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:28495200-28508600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr22:28496600-28517200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr22:28497200-28508600	Weak transcription	Stomach Mucosa	stomach
12	chr22:28498200-28510800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:28499800-28508400	Weak transcription	HSMMtube	muscle
14	chr22:28500200-28508400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr22:28500400-28508600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:28501400-28508200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:28501400-28512600	Weak transcription	Fetal Kidney	kidney
18	chr22:28501600-28508600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr22:28501600-28512000	Weak transcription	Esophagus	oesophagus
20	chr22:28501600-28517000	Weak transcription	Brain Angular Gyrus	brain
21	chr22:28501800-28508600	Weak transcription	Fetal Thymus	thymus
22	chr22:28502000-28515000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:28502400-28508600	Weak transcription	Gastric	stomach
24	chr22:28502400-28508600	Weak transcription	Spleen	Spleen
25	chr22:28502400-28535800	Weak transcription	Right Ventricle	heart
26	chr22:28503200-28509000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr22:28504200-28508200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:28504200-28508200	Weak transcription	Brain Hippocampus Middle	brain
29	chr22:28504200-28508400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr22:28504200-28508800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:28504200-28510800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr22:28504200-28514600	Weak transcription	Brain Germinal Matrix	brain
33	chr22:28504400-28508200	Weak transcription	Fetal Stomach	stomach
34	chr22:28504400-28508200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr22:28504400-28508400	Weak transcription	Fetal Brain Male	brain
36	chr22:28504400-28508400	Weak transcription	Fetal Intestine Small	intestine
37	chr22:28504400-28508400	Weak transcription	Fetal Muscle Leg	muscle
38	chr22:28504400-28508600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr22:28504400-28508600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr22:28504400-28508600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr22:28504400-28508600	Weak transcription	Left Ventricle	heart
42	chr22:28504400-28512200	Weak transcription	Aorta	Aorta
43	chr22:28504400-28513200	Weak transcription	HepG2	liver
44	chr22:28504400-28516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr22:28505000-28508200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr22:28505200-28508200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr22:28505200-28512800	Weak transcription	Dnd41	blood
48	chr22:28505400-28510200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr22:28506400-28510000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr22:28507000-28509200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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