Variant report

Variant	rs10854389
Chromosome Location	chr21:40190620-40190621
allele	C/G
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	chr21:40187247..40188844-chr21:40188986..40190823,2	MCF-7	breast:
2	chr21:40190146..40192879-chr21:40208219..40210251,3	MCF-7	breast:
3	chr21:40188542..40191165-chr21:40281236..40284750,4	MCF-7	breast:
4	chr21:40187682..40190648-chr21:40515051..40517560,2	K562	blood:
5	chr21:40189312..40192236-chr21:40199208..40201544,2	K562	blood:
6	chr21:40189822..40191337-chr21:40202443..40204626,2	MCF-7	breast:
7	chr21:40102465..40104308-chr21:40190130..40191918,2	MCF-7	breast:
8	chr21:40188609..40191255-chr21:40337994..40339722,2	MCF-7	breast:
9	chr21:40188480..40191241-chr21:40201204..40203574,2	K562	blood:
10	chr21:40190407..40192977-chr21:40211375..40214122,2	MCF-7	breast:
11	chr21:40189866..40191411-chr21:40201811..40203676,2	MCF-7	breast:
12	chr21:40189942..40191936-chr21:40195695..40197714,2	MCF-7	breast:

No data

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1000844	0.87[ASN][1000 genomes]
rs1009121	0.86[ASN][1000 genomes]
rs1051420	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1051475	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1051476	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11088449	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11088450	0.88[ASN][1000 genomes]
rs11088451	0.88[ASN][1000 genomes]
rs11088452	0.87[ASN][1000 genomes]
rs11088453	0.87[ASN][1000 genomes]
rs11088454	0.82[ASN][1000 genomes]
rs1123350	0.87[ASN][1000 genomes]
rs11254	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11701191	0.88[ASN][1000 genomes]
rs11701500	0.82[ASN][1000 genomes]
rs11702403	0.86[ASN][1000 genomes]
rs12482470	0.88[ASN][1000 genomes]
rs12483746	0.83[ASN][1000 genomes]
rs12627283	0.84[ASN][1000 genomes]
rs13046853	0.88[ASN][1000 genomes]
rs13047133	0.88[ASN][1000 genomes]
rs13047537	0.81[ASN][1000 genomes]
rs13047745	0.88[ASN][1000 genomes]
rs13048035	0.86[ASN][1000 genomes]
rs13050340	0.87[ASN][1000 genomes]
rs1571707	0.81[ASN][1000 genomes]
rs2070531	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2142035	0.83[ASN][1000 genomes]
rs2836683	0.89[ASN][1000 genomes]
rs2836684	0.89[ASN][1000 genomes]
rs2836685	0.88[ASN][1000 genomes]
rs2836686	0.88[ASN][1000 genomes]
rs2836687	0.88[ASN][1000 genomes]
rs2836688	0.88[ASN][1000 genomes]
rs2836689	0.88[ASN][1000 genomes]
rs2836690	0.88[ASN][1000 genomes]
rs2836691	0.88[ASN][1000 genomes]
rs2836692	0.88[ASN][1000 genomes]
rs2836693	0.88[ASN][1000 genomes]
rs2836694	0.87[ASN][1000 genomes]
rs2836710	0.80[ASN][1000 genomes]
rs2836711	0.82[ASN][1000 genomes]
rs6517481	0.87[EUR][1000 genomes]
rs7276961	0.86[EUR][1000 genomes]
rs7282444	0.82[ASN][1000 genomes]
rs7282723	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs762386	0.87[ASN][1000 genomes]
rs762387	0.87[ASN][1000 genomes]
rs9941892	0.84[ASN][1000 genomes]
rs998855	0.87[ASN][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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40180200-40198400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr21:40181600-40192600	Strong transcription	Skeletal Muscle Male	skeletal muscle
3	chr21:40181600-40193600	Strong transcription	Fetal Muscle Leg	muscle
4	chr21:40181800-40193800	Strong transcription	Fetal Muscle Trunk	muscle
5	chr21:40181800-40197000	Strong transcription	Fetal Thymus	thymus
6	chr21:40182000-40196600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr21:40183000-40196600	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr21:40183600-40196800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr21:40183800-40196800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:40184000-40192400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr21:40184000-40192400	Strong transcription	Adipose Nuclei	Adipose
12	chr21:40184000-40192600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:40184000-40193600	Strong transcription	Primary hematopoietic stem cells	blood
14	chr21:40184000-40196800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr21:40184200-40192400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr21:40184200-40193200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr21:40184400-40196800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr21:40184600-40195000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr21:40184600-40196000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:40184800-40195200	Strong transcription	Ovary	ovary
21	chr21:40184800-40196600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr21:40184800-40196800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr21:40185000-40192600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr21:40185000-40192600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr21:40185000-40196600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr21:40185000-40196600	Strong transcription	K562	blood
27	chr21:40185000-40197000	Strong transcription	Thymus	Thymus
28	chr21:40185200-40196600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr21:40185400-40191000	Strong transcription	Fetal Kidney	kidney
30	chr21:40185400-40191400	Strong transcription	Aorta	Aorta
31	chr21:40185400-40193600	Weak transcription	Brain Germinal Matrix	brain
32	chr21:40185400-40194000	Strong transcription	Fetal Intestine Large	intestine
33	chr21:40185600-40191400	Strong transcription	Fetal Lung	lung
34	chr21:40185600-40195200	Weak transcription	Fetal Brain Female	brain
35	chr21:40185600-40195200	Strong transcription	GM12878-XiMat	blood
36	chr21:40185800-40193200	Strong transcription	Fetal Stomach	stomach
37	chr21:40186000-40197600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr21:40186200-40191200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr21:40186200-40192400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr21:40186200-40195800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
41	chr21:40186200-40196400	Strong transcription	Primary B cells from cord blood	blood
42	chr21:40186200-40197000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr21:40186400-40194400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr21:40186400-40195200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:40186400-40195200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr21:40186600-40194800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr21:40186600-40196600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr21:40186600-40196800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr21:40186800-40190800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr21:40186800-40191600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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