Variant report

Variant	rs870223
Chromosome Location	chr2:21494476-21494477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:21494228..21496159-chr2:21497954..21499633,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12472945	0.95[ASN][1000 genomes]
rs13002436	0.98[ASN][1000 genomes]
rs13426161	0.95[ASN][1000 genomes]
rs1397400	0.95[ASN][1000 genomes]
rs6545183	0.94[ASN][1000 genomes]
rs6718442	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7584773	0.91[ASN][1000 genomes]
rs870570	0.95[ASN][1000 genomes]
rs875919	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21479400-21494800	Enhancers	Brain Substantia Nigra	brain
2	chr2:21489600-21495400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:21489800-21494600	Enhancers	Brain Anterior Caudate	brain
4	chr2:21489800-21494600	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:21489800-21495200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:21491200-21494600	Enhancers	Fetal Stomach	stomach
7	chr2:21491200-21495200	Enhancers	Fetal Heart	heart
8	chr2:21492000-21494800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:21492000-21496000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:21492000-21504600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:21492600-21494800	Enhancers	Brain Hippocampus Middle	brain
12	chr2:21492800-21494600	Enhancers	Brain Angular Gyrus	brain
13	chr2:21492800-21498800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:21493200-21494600	Enhancers	Fetal Muscle Leg	muscle
15	chr2:21493200-21494600	Enhancers	Spleen	Spleen
16	chr2:21493200-21494800	Enhancers	Rectal Smooth Muscle	rectum
17	chr2:21493400-21499000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:21493400-21511200	Weak transcription	Aorta	Aorta
19	chr2:21493800-21494600	Enhancers	Right Ventricle	heart
20	chr2:21493800-21509000	Weak transcription	K562	blood
21	chr2:21494000-21494800	Enhancers	Placenta	Placenta
22	chr2:21494000-21494800	Enhancers	Ovary	ovary
23	chr2:21494000-21495000	Enhancers	Left Ventricle	heart
24	chr2:21494000-21499200	Weak transcription	Fetal Intestine Large	intestine
25	chr2:21494200-21494800	Enhancers	Stomach Smooth Muscle	stomach
26	chr2:21494200-21495600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:21494200-21504800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:21494200-21506200	Weak transcription	Right Atrium	heart
29	chr2:21494400-21497400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:21494400-21499800	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:21494400-21499800	Weak transcription	Fetal Kidney	kidney

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