Variant report

Variant	rs12478815
Chromosome Location	chr2:21499315-21499316
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: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13426161	0.82[EUR][1000 genomes]
rs34429995	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6545183	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6718442	0.83[ASN][1000 genomes]
rs875919	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21492000-21504600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:21493400-21511200	Weak transcription	Aorta	Aorta
3	chr2:21493800-21509000	Weak transcription	K562	blood
4	chr2:21494200-21504800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:21494200-21506200	Weak transcription	Right Atrium	heart
6	chr2:21494400-21499800	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:21494400-21499800	Weak transcription	Fetal Kidney	kidney
8	chr2:21494600-21504400	Weak transcription	Brain Anterior Caudate	brain
9	chr2:21494800-21500000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:21494800-21500200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:21497800-21504800	Weak transcription	Spleen	Spleen
12	chr2:21498000-21500000	Weak transcription	Brain Substantia Nigra	brain
13	chr2:21498000-21500200	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:21498000-21501000	Enhancers	Fetal Muscle Leg	muscle
15	chr2:21498200-21500400	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:21498600-21504600	Weak transcription	Brain Angular Gyrus	brain
17	chr2:21498800-21499800	Enhancers	Duodenum Mucosa	Duodenum
18	chr2:21498800-21500200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:21499000-21499800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr2:21499000-21501200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr2:21499000-21501600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr2:21499200-21499400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:21499200-21500800	Enhancers	Colonic Mucosa	Colon
24	chr2:21499200-21501600	Enhancers	Fetal Intestine Large	intestine

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