Variant report

Variant	rs2070541
Chromosome Location	chr21:45319619-45319620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45305650..45307463-chr21:45319282..45321366,2	MCF-7	breast:
2	chr21:45317264..45322147-chr21:45323792..45330212,11	K562	blood:
3	chr21:45294255..45295837-chr21:45318630..45320184,2	K562	blood:
4	chr21:45319240..45321879-chr21:45325042..45326833,2	MCF-7	breast:
5	chr21:45317953..45320008-chr21:45333800..45335769,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1006757	0.80[CEU][hapmap];0.83[CHB][hapmap]
rs11089107	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13047961	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13050512	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2838429	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838438	0.83[CHB][hapmap]
rs2838440	0.80[CEU][hapmap];0.83[CHB][hapmap]
rs2838441	0.83[CHB][hapmap]
rs8128978	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8131889	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9637176	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9637232	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9637233	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9976744	0.83[EUR][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	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers 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	121 gene(s)	inside rSNPs	diseases
4	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45287400-45330200	Weak transcription	Fetal Kidney	kidney
2	chr21:45288200-45324200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr21:45301000-45328400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:45301400-45326000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:45304800-45322200	Weak transcription	Hela-S3	cervix
6	chr21:45304800-45323200	Weak transcription	Colonic Mucosa	Colon
7	chr21:45305000-45322800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr21:45305000-45328000	Weak transcription	NHEK	skin
9	chr21:45305000-45332600	Weak transcription	Colon Smooth Muscle	Colon
10	chr21:45305200-45323000	Weak transcription	Fetal Heart	heart
11	chr21:45305200-45323600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:45305200-45327600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr21:45305800-45320200	Weak transcription	Brain Anterior Caudate	brain
14	chr21:45305800-45323000	Weak transcription	Brain Angular Gyrus	brain
15	chr21:45306000-45320200	Weak transcription	Pancreas	Pancrea
16	chr21:45306000-45322400	Weak transcription	Esophagus	oesophagus
17	chr21:45306000-45323200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr21:45306200-45323000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr21:45307000-45323400	Weak transcription	Brain Hippocampus Middle	brain
20	chr21:45309800-45330600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr21:45313000-45320600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr21:45314000-45322200	Weak transcription	NHLF	lung
23	chr21:45314000-45322400	Weak transcription	Ovary	ovary
24	chr21:45314000-45322400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr21:45314000-45323200	Weak transcription	Psoas Muscle	Psoas
26	chr21:45314000-45323400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr21:45314000-45330600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr21:45314200-45323600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr21:45314400-45332000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr21:45314800-45319800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr21:45314800-45324400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr21:45314800-45329600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr21:45314800-45336000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr21:45315400-45322000	Weak transcription	HUVEC	blood vessel
35	chr21:45316000-45322400	Weak transcription	Right Atrium	heart
36	chr21:45316000-45322600	Weak transcription	Left Ventricle	heart
37	chr21:45316400-45319800	Weak transcription	Stomach Mucosa	stomach
38	chr21:45316600-45324600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr21:45316600-45336000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr21:45317000-45319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr21:45317800-45321800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr21:45318000-45319800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr21:45318200-45319800	Strong transcription	K562	blood
44	chr21:45318200-45320200	Strong transcription	Dnd41	blood
45	chr21:45318200-45321000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr21:45318200-45323200	Strong transcription	GM12878-XiMat	blood
47	chr21:45318600-45321200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr21:45318800-45319800	Strong transcription	Adipose Nuclei	Adipose
49	chr21:45318800-45319800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr21:45318800-45320000	Strong transcription	Rectal Mucosa Donor 29	rectum

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