Variant report

Variant	rs8127884
Chromosome Location	chr21:40899703-40899704
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40899001..40900930-chr21:40949117..40954040,4	MCF-7	breast:
2	chr17:58676920..58679368-chr21:40897816..40900340,2	MCF-7	breast:
3	chr21:40899345..40899885-chr21:41095454..41095987,2	MCF-7	breast:
4	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
ENSG00000170836	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6517550	1.00[AMR][1000 genomes]
rs7281347	1.00[AMR][1000 genomes]
rs7281516	1.00[AMR][1000 genomes]
rs8134224	0.82[AFR][1000 genomes];1.00[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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40880200-40899800	Weak transcription	Fetal Muscle Leg	muscle
2	chr21:40888200-40907400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr21:40894400-40901600	Enhancers	Pancreas	Pancrea
4	chr21:40895800-40909600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:40896000-40899800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr21:40896000-40903000	Weak transcription	Brain Substantia Nigra	brain
7	chr21:40896200-40899800	Weak transcription	Brain Hippocampus Middle	brain
8	chr21:40896200-40899800	Weak transcription	Colonic Mucosa	Colon
9	chr21:40896200-40900800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr21:40896800-40899800	Weak transcription	Fetal Brain Male	brain
11	chr21:40897600-40899800	Weak transcription	Spleen	Spleen
12	chr21:40898000-40899800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:40898600-40900800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr21:40898800-40900200	Enhancers	Right Atrium	heart
15	chr21:40898800-40900400	Enhancers	Placenta	Placenta
16	chr21:40898800-40900400	Enhancers	Right Ventricle	heart
17	chr21:40898800-40900600	Enhancers	Left Ventricle	heart
18	chr21:40898800-40900800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr21:40899000-40900600	Enhancers	Fetal Intestine Large	intestine
20	chr21:40899000-40901000	Enhancers	Fetal Intestine Small	intestine
21	chr21:40899000-40901400	Enhancers	Stomach Mucosa	stomach
22	chr21:40899200-40899800	Enhancers	Adipose Nuclei	Adipose
23	chr21:40899200-40899800	Enhancers	Duodenum Mucosa	Duodenum
24	chr21:40899200-40899800	Active TSS	Rectal Smooth Muscle	rectum
25	chr21:40899200-40900200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:40899200-40900200	Flanking Active TSS	HepG2	liver
27	chr21:40899200-40900400	Enhancers	Fetal Muscle Trunk	muscle
28	chr21:40899200-40900600	Enhancers	Gastric	stomach
29	chr21:40899200-40901200	Enhancers	Lung	lung
30	chr21:40899400-40900200	Enhancers	Fetal Lung	lung
31	chr21:40899400-40901000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr21:40899600-40899800	Flanking Active TSS	Fetal Heart	heart
33	chr21:40899600-40900000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr21:40899600-40900000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr21:40899600-40900000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr21:40899600-40900000	Enhancers	Fetal Stomach	stomach
37	chr21:40899600-40900200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr21:40899600-40900200	Flanking Active TSS	Liver	Liver
39	chr21:40899600-40900200	Enhancers	Brain Anterior Caudate	brain
40	chr21:40899600-40900400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr21:40899600-40900400	Enhancers	Ovary	ovary
42	chr21:40899600-40900600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr21:40899600-40900600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr21:40899600-40900800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr21:40899600-40901000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr21:40899600-40901000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:40899600-40901000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr21:40899600-40901000	Weak transcription	Small Intestine	intestine

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