Variant report

Variant	rs9975103
Chromosome Location	chr21:44875560-44875561
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44856722..44860442-chr21:44872763..44876601,3	MCF-7	breast:
2	chr21:44868253..44869862-chr21:44873138..44875679,2	MCF-7	breast:
3	chr21:44846498..44849129-chr21:44874254..44876007,2	K562	blood:
4	chr21:44870036..44872760-chr21:44874681..44876370,2	MCF-7	breast:
5	chr21:44855929..44858122-chr21:44875140..44877495,2	MCF-7	breast:
6	chr21:44866839..44869557-chr21:44874645..44877226,3	MCF-7	breast:
7	chr21:44873925..44876405-chr21:44896516..44898228,2	MCF-7	breast:
8	chr21:44875350..44876902-chr21:44881874..44883499,2	K562	blood:
9	chr21:44871086..44873252-chr21:44875393..44877647,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185186	Chromatin interaction
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10470255	0.95[EUR][1000 genomes]
rs17004547	0.83[EUR][1000 genomes]
rs17004548	0.95[EUR][1000 genomes]
rs17004556	0.89[ASW][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17004570	1.00[CEU][hapmap]
rs2838307	1.00[CEU][hapmap]
rs2838308	1.00[MEX][hapmap]
rs8127287	1.00[CEU][hapmap]
rs9974901	0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs9977495	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9983102	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
6	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv470901	chr21:44781356-44884252	Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
9	nsv913849	chr21:44817248-44925334	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
10	nsv913852	chr21:44829087-44925334	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv913858	chr21:44831981-44877881	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
12	nsv913859	chr21:44831981-44884252	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
13	nsv913860	chr21:44831981-44925334	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
14	nsv913862	chr21:44833854-44877881	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
15	nsv913867	chr21:44835508-44925334	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
16	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
17	nsv913872	chr21:44860542-44925334	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
18	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9975103	PLK3	trans	brain	seeQTL

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44859400-44883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:44863400-44877200	Weak transcription	Right Atrium	heart
3	chr21:44867000-44881000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:44868400-44876000	Weak transcription	Left Ventricle	heart
5	chr21:44868600-44878400	Enhancers	Fetal Brain Male	brain
6	chr21:44870400-44876200	Weak transcription	Fetal Intestine Small	intestine
7	chr21:44870800-44880600	Weak transcription	HepG2	liver
8	chr21:44871000-44882800	Weak transcription	Brain Germinal Matrix	brain
9	chr21:44871800-44875800	Enhancers	HSMM	muscle
10	chr21:44872200-44875800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr21:44872600-44875600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr21:44873000-44875800	Weak transcription	Esophagus	oesophagus
13	chr21:44873000-44876200	Weak transcription	Colon Smooth Muscle	Colon
14	chr21:44873200-44875600	Weak transcription	A549	lung
15	chr21:44873200-44878800	Enhancers	Primary hematopoietic stem cells	blood
16	chr21:44873400-44876000	Weak transcription	Right Ventricle	heart
17	chr21:44873400-44878200	Weak transcription	HMEC	breast
18	chr21:44873400-44878400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:44873800-44875600	Enhancers	Primary B cells from peripheral blood	blood
20	chr21:44873800-44876200	Enhancers	Thymus	Thymus
21	chr21:44873800-44876400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:44873800-44876400	Enhancers	Fetal Thymus	thymus
23	chr21:44873800-44877200	Enhancers	Primary B cells from cord blood	blood
24	chr21:44873800-44878800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr21:44873800-44878800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr21:44874000-44877000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr21:44874000-44879600	Enhancers	Fetal Muscle Leg	muscle
28	chr21:44874200-44876200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr21:44874200-44877400	Enhancers	Fetal Stomach	stomach
30	chr21:44874200-44879800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr21:44874400-44876600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr21:44874400-44879000	Enhancers	Placenta	Placenta
33	chr21:44874600-44876000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr21:44874600-44876000	Enhancers	Fetal Brain Female	brain
35	chr21:44874600-44876400	Weak transcription	NH-A	brain
36	chr21:44874800-44875800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr21:44874800-44876000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr21:44874800-44876000	Weak transcription	GM12878-XiMat	blood
39	chr21:44875000-44875600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr21:44875000-44875600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr21:44875000-44875600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr21:44875000-44876000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr21:44875000-44876400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr21:44875200-44875600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr21:44875200-44876400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr21:44875200-44876400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr21:44875200-44877600	Enhancers	HSMMtube	muscle
48	chr21:44875400-44875600	Enhancers	Fetal Lung	lung
49	chr21:44875400-44876400	Enhancers	NHEK	skin
50	chr21:44875400-44876600	Enhancers	Lung	lung

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