Variant report

Variant	rs10482864
Chromosome Location	chr21:16406393-16406394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16401281..16403693-chr21:16405918..16408150,2	MCF-7	breast:
2	chr21:16404641..16407621-chr21:16410737..16413727,2	K562	blood:
3	chr21:16397947..16400507-chr21:16406341..16409146,2	MCF-7	breast:
4	chr21:16405692..16408928-chr21:16436445..16439316,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11088259	0.98[ASN][1000 genomes]
rs12627409	0.93[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs12627439	0.94[ASN][1000 genomes]
rs2823004	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs2823018	0.93[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs2823023	0.91[ASN][1000 genomes]
rs2823025	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs62221393	0.90[ASN][1000 genomes]
rs73172398	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv913411	chr21:16380025-16424421	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv913412	chr21:16382148-16416811	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:16368600-16414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
4	chr21:16379600-16414800	Weak transcription	Left Ventricle	heart
5	chr21:16379600-16414800	Weak transcription	Ovary	ovary
6	chr21:16379800-16406400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr21:16380600-16414600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr21:16382000-16414600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr21:16383400-16414600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr21:16386000-16413200	Weak transcription	K562	blood
11	chr21:16388800-16407000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:16391200-16406800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr21:16393800-16406600	Weak transcription	Primary T cells from cord blood	blood
14	chr21:16393800-16406800	Weak transcription	Dnd41	blood
15	chr21:16395600-16406800	Weak transcription	NHEK	skin
16	chr21:16396400-16406600	Weak transcription	HSMMtube	muscle
17	chr21:16397200-16413200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:16400000-16423200	Weak transcription	Fetal Stomach	stomach
19	chr21:16400200-16423200	Weak transcription	Brain Hippocampus Middle	brain
20	chr21:16400600-16409800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:16400800-16406400	Weak transcription	Fetal Lung	lung
22	chr21:16400800-16423000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr21:16401200-16411400	Weak transcription	Fetal Kidney	kidney
24	chr21:16401400-16423000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr21:16401600-16407200	Strong transcription	HSMM	muscle
26	chr21:16401600-16423000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr21:16401600-16426400	Weak transcription	HUVEC	blood vessel
28	chr21:16401800-16413200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr21:16401800-16413200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr21:16402200-16414800	Weak transcription	Pancreas	Pancrea
31	chr21:16402400-16414600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr21:16402400-16416200	Weak transcription	Right Ventricle	heart
33	chr21:16402400-16420600	Weak transcription	Brain Angular Gyrus	brain
34	chr21:16402600-16411400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr21:16402800-16408200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr21:16403000-16406800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr21:16403200-16406800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr21:16403200-16414800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr21:16403400-16406400	Weak transcription	Fetal Brain Female	brain
40	chr21:16403400-16411600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr21:16403400-16413000	Weak transcription	Placenta	Placenta
42	chr21:16403400-16414600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:16403400-16414600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr21:16403600-16423200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:16404200-16406400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr21:16404200-16407600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr21:16404400-16414600	Weak transcription	Fetal Muscle Leg	muscle
48	chr21:16404600-16406400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr21:16404600-16408200	Weak transcription	Primary B cells from cord blood	blood
50	chr21:16404600-16411400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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