Variant report

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12478815	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13002436	0.82[ASN][1000 genomes]
rs13426161	0.81[ASN][1000 genomes]
rs34429995	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6545183	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6718442	0.85[ASN][1000 genomes]
rs870223	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs875919	OR1D5	trans	parietal	SCAN
rs875919	DNAJC27	cis	parietal	SCAN

Chromatin state (count:21 , 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	chr2:21492800-21498800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:21493400-21499000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:21493400-21511200	Weak transcription	Aorta	Aorta
5	chr2:21493800-21509000	Weak transcription	K562	blood
6	chr2:21494000-21499200	Weak transcription	Fetal Intestine Large	intestine
7	chr2:21494200-21504800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:21494200-21506200	Weak transcription	Right Atrium	heart
9	chr2:21494400-21499800	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:21494400-21499800	Weak transcription	Fetal Kidney	kidney
11	chr2:21494600-21504400	Weak transcription	Brain Anterior Caudate	brain
12	chr2:21494800-21500000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:21494800-21500200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:21495200-21499200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:21497200-21498200	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:21497400-21498200	Enhancers	Brain Hippocampus Middle	brain
17	chr2:21497800-21498600	Enhancers	Brain Angular Gyrus	brain
18	chr2:21497800-21504800	Weak transcription	Spleen	Spleen
19	chr2:21498000-21500000	Weak transcription	Brain Substantia Nigra	brain
20	chr2:21498000-21500200	Enhancers	Fetal Muscle Trunk	muscle
21	chr2:21498000-21501000	Enhancers	Fetal Muscle Leg	muscle

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