Variant report

Variant	rs17042060
Chromosome Location	chr2:21491926-21491927
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10199362	0.83[AMR][1000 genomes]
rs13425708	0.83[AMR][1000 genomes]
rs57096036	0.83[AMR][1000 genomes]
rs58126148	0.83[AMR][1000 genomes]
rs59635491	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519215	chr2:21473751-21502727	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
2	nsv1011486	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv535602	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv523572	chr2:21489083-21493269	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
5	nsv518468	chr2:21489083-21502727	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21479400-21494800	Enhancers	Brain Substantia Nigra	brain
2	chr2:21489000-21492600	Enhancers	Ovary	ovary
3	chr2:21489600-21495400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:21489800-21492000	Enhancers	Pancreas	Pancrea
5	chr2:21489800-21492200	Enhancers	Brain Hippocampus Middle	brain
6	chr2:21489800-21492400	Enhancers	Brain Angular Gyrus	brain
7	chr2:21489800-21494200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:21489800-21494600	Enhancers	Brain Anterior Caudate	brain
9	chr2:21489800-21494600	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:21489800-21495200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:21490200-21494400	Enhancers	Fetal Kidney	kidney
12	chr2:21490400-21492200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:21490400-21492200	Enhancers	Spleen	Spleen
14	chr2:21490400-21493800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:21490600-21492400	Weak transcription	Fetal Lung	lung
16	chr2:21490600-21494000	Enhancers	Fetal Intestine Large	intestine
17	chr2:21490600-21494200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:21490800-21492000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:21490800-21493200	Weak transcription	K562	blood
20	chr2:21491200-21492000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:21491200-21494600	Enhancers	Fetal Stomach	stomach
22	chr2:21491200-21495200	Enhancers	Fetal Heart	heart
23	chr2:21491600-21492600	Weak transcription	Aorta	Aorta
24	chr2:21491600-21493400	Weak transcription	Right Atrium	heart
25	chr2:21491600-21494400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:21491800-21492000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:21491800-21492200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:21491800-21492200	Enhancers	Left Ventricle	heart
29	chr2:21491800-21492200	Enhancers	Small Intestine	intestine
30	chr2:21491800-21492800	Enhancers	Duodenum Mucosa	Duodenum
31	chr2:21491800-21493200	Enhancers	HepG2	liver
32	chr2:21491800-21493800	Enhancers	Fetal Intestine Small	intestine

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