Variant report

Variant	rs8131479
Chromosome Location	chr21:40898441-40898442
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:58676920..58679368-chr21:40897816..40900340,2	MCF-7	breast:
2	chr21:40897577..40899637-chr21:40983586..40986470,3	MCF-7	breast:
3	chr21:40898411..40901316-chr21:40977081..40979354,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH3BGR-1	chr21:40898286-40901782	NONHSAT082198

Variant related genes	Relation type
ENSG00000184809	Chromatin interaction
ENSG00000170836	Chromatin interaction

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

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

rs_ID	r²[population]
rs1159520	0.81[YRI][hapmap];0.93[AMR][1000 genomes]
rs16997808	0.93[AMR][1000 genomes]
rs7277174	0.93[AMR][1000 genomes]
rs73906060	0.93[AMR][1000 genomes]
rs73906062	0.87[AMR][1000 genomes]
rs8126968	0.87[AMR][1000 genomes]
rs8134055	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1062088	chr21:40838027-40919253	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756754	chr21:40857523-40966156	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2758820	chr21:40857523-40966156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv34779	chr21:40884871-40977473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40875800-40898600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr21:40877400-40899600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:40880200-40899800	Weak transcription	Fetal Muscle Leg	muscle
4	chr21:40888200-40907400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr21:40894400-40901600	Enhancers	Pancreas	Pancrea
6	chr21:40895600-40899600	Weak transcription	Fetal Stomach	stomach
7	chr21:40895800-40899600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:40895800-40909600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr21:40896000-40898800	Weak transcription	Right Atrium	heart
10	chr21:40896000-40899200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr21:40896000-40899800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr21:40896000-40903000	Weak transcription	Brain Substantia Nigra	brain
13	chr21:40896200-40898600	Weak transcription	Aorta	Aorta
14	chr21:40896200-40898800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr21:40896200-40899200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr21:40896200-40899600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr21:40896200-40899800	Weak transcription	Brain Hippocampus Middle	brain
18	chr21:40896200-40899800	Weak transcription	Colonic Mucosa	Colon
19	chr21:40896200-40900800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr21:40896600-40899000	Weak transcription	Stomach Mucosa	stomach
21	chr21:40896800-40899800	Weak transcription	Fetal Brain Male	brain
22	chr21:40897400-40898800	Weak transcription	Right Ventricle	heart
23	chr21:40897600-40898600	Weak transcription	Liver	Liver
24	chr21:40897600-40899200	Weak transcription	Adipose Nuclei	Adipose
25	chr21:40897600-40899600	Weak transcription	Brain Anterior Caudate	brain
26	chr21:40897600-40899800	Weak transcription	Spleen	Spleen
27	chr21:40897800-40898800	Weak transcription	Left Ventricle	heart
28	chr21:40897800-40898800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr21:40897800-40899200	Weak transcription	Lung	lung
30	chr21:40898000-40899800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:40898200-40899200	Enhancers	Fetal Heart	heart

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