Variant report

Variant	rs6005749
Chromosome Location	chr22:28642451-28642452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12160801	1.00[AMR][1000 genomes]
rs5997356	1.00[AFR][1000 genomes]
rs6005782	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
2	chr22:28628200-28643200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr22:28635600-28650800	Weak transcription	Dnd41	blood
4	chr22:28639400-28643200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:28639400-28643600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr22:28639400-28643800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:28639400-28644000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr22:28639400-28644200	Enhancers	Osteobl	bone
9	chr22:28639400-28645800	Enhancers	Fetal Heart	heart
10	chr22:28639600-28642800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:28639600-28643200	Enhancers	HSMM	muscle
12	chr22:28639600-28644000	Enhancers	NH-A	brain
13	chr22:28639800-28643000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:28639800-28643000	Weak transcription	Gastric	stomach
15	chr22:28639800-28643000	Weak transcription	Left Ventricle	heart
16	chr22:28639800-28643200	Weak transcription	Right Ventricle	heart
17	chr22:28640800-28642600	Enhancers	A549	lung
18	chr22:28640800-28643400	Enhancers	HSMMtube	muscle
19	chr22:28640800-28644000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr22:28640800-28644200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr22:28640800-28646200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:28641000-28642800	Weak transcription	Brain Anterior Caudate	brain
23	chr22:28641000-28642800	Enhancers	HepG2	liver
24	chr22:28641000-28643200	Weak transcription	Brain Angular Gyrus	brain
25	chr22:28641000-28643200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr22:28641000-28643200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr22:28641000-28643800	Weak transcription	Right Atrium	heart
28	chr22:28641000-28644000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr22:28641000-28645600	Weak transcription	Aorta	Aorta
30	chr22:28641000-28646800	Weak transcription	Small Intestine	intestine
31	chr22:28641000-28655800	Weak transcription	Fetal Kidney	kidney
32	chr22:28641200-28648400	Weak transcription	Fetal Brain Male	brain
33	chr22:28641400-28643000	Weak transcription	Brain Hippocampus Middle	brain
34	chr22:28641400-28643400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr22:28641400-28643600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:28641400-28644000	Enhancers	NHLF	lung
37	chr22:28641400-28644200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr22:28641600-28643200	Weak transcription	Fetal Lung	lung
39	chr22:28641600-28645000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:28641800-28642600	Weak transcription	Psoas Muscle	Psoas
41	chr22:28641800-28642800	Enhancers	Colon Smooth Muscle	Colon
42	chr22:28641800-28643400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:28641800-28644200	Weak transcription	Stomach Mucosa	stomach
44	chr22:28641800-28644600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr22:28641800-28644600	Weak transcription	Fetal Intestine Small	intestine
46	chr22:28642000-28642800	Weak transcription	Adipose Nuclei	Adipose
47	chr22:28642000-28642800	Weak transcription	Brain Substantia Nigra	brain
48	chr22:28642000-28643600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr22:28642000-28648200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr22:28642200-28642800	Enhancers	Muscle Satellite Cultured Cells	--

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