Variant report

Variant	rs10485794
Chromosome Location	chr20:52835292-52835293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52835069..52840886-chr20:53069895..53074543,8	MCF-7	breast:
2	chr20:52834718..52835643-chr20:53256141..53256960,2	MCF-7	breast:
3	chr20:52834058..52838026-chr20:53082960..53086578,4	MCF-7	breast:
4	chr20:52834872..52837483-chr20:53257403..53260162,2	MCF-7	breast:
5	chr20:52830268..52836346-chr20:52932384..52936332,6	MCF-7	breast:
6	chr20:52834958..52838732-chr20:53262770..53264255,82	MCF-7	breast:
7	chr20:52834806..52836428-chr20:52863803..52865518,2	MCF-7	breast:
8	chr20:52835239..52838782-chr20:52890174..52893182,4	MCF-7	breast:
9	chr20:52830354..52840699-chr20:53260794..53267992,26	MCF-7	breast:
10	chr17:57919043..57920970-chr20:52833824..52836457,2	MCF-7	breast:
11	chr13:20179010..20180942-chr20:52834337..52836488,2	MCF-7	breast:
12	chr20:52834705..52836760-chr20:52964678..52966979,2	MCF-7	breast:

No data

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16999265	0.81[AFR][1000 genomes]
rs16999283	1.00[CEU][hapmap]
rs16999288	1.00[CEU][hapmap]
rs16999291	1.00[CEU][hapmap]
rs6127146	1.00[CEU][hapmap]
rs7270801	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52825400-52838800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:52825600-52839000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:52826000-52837200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:52826000-52837800	Weak transcription	Fetal Thymus	thymus
5	chr20:52826000-52838200	Weak transcription	Pancreas	Pancrea
6	chr20:52826000-52840000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:52826200-52836000	Weak transcription	Colonic Mucosa	Colon
8	chr20:52826200-52838800	Weak transcription	Gastric	stomach
9	chr20:52826600-52836800	Weak transcription	Liver	Liver
10	chr20:52826600-52837400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr20:52826600-52838200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr20:52826600-52838800	Weak transcription	Brain Anterior Caudate	brain
13	chr20:52826800-52837200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr20:52826800-52838200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr20:52826800-52838400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:52826800-52838800	Weak transcription	Brain Hippocampus Middle	brain
17	chr20:52827000-52836200	Weak transcription	Small Intestine	intestine
18	chr20:52827000-52838400	Weak transcription	Fetal Brain Male	brain
19	chr20:52827000-52838800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr20:52827000-52838800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr20:52827000-52838800	Weak transcription	Fetal Lung	lung
22	chr20:52827000-52838800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr20:52827200-52838800	Weak transcription	Right Atrium	heart
24	chr20:52827200-52841000	Weak transcription	Brain Germinal Matrix	brain
25	chr20:52829200-52837800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr20:52829400-52835800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr20:52829400-52847400	Weak transcription	Aorta	Aorta
28	chr20:52829600-52835800	Strong transcription	HepG2	liver
29	chr20:52829600-52838800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr20:52829600-52838800	Weak transcription	NH-A	brain
31	chr20:52829600-52847600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr20:52829800-52836600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr20:52829800-52837800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr20:52830000-52838800	Weak transcription	NHDF-Ad	bronchial
35	chr20:52830000-52839200	Weak transcription	Ovary	ovary
36	chr20:52830200-52836800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr20:52830600-52837000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr20:52830800-52837400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr20:52831200-52835600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr20:52831200-52835800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr20:52831200-52836600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr20:52831200-52836600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr20:52831400-52836000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr20:52831400-52842200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr20:52831600-52835400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr20:52831600-52835600	Strong transcription	HSMM	muscle
47	chr20:52832200-52838600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr20:52832600-52835400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr20:52832600-52837800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr20:52832600-52838000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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