Variant report

Variant	rs2838678
Chromosome Location	chr21:46190842-46190843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46188637..46191346-chr21:46209977..46212870,2	MCF-7	breast:
2	chr21:46182776..46184894-chr21:46189262..46192289,3	K562	blood:
3	chr21:46188583..46191160-chr21:46207285..46209699,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1071792	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11088963	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1109280	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11701732	0.93[ASN][1000 genomes]
rs11702064	0.81[ASN][1000 genomes]
rs11702743	0.88[ASN][1000 genomes]
rs13049657	0.86[ASN][1000 genomes]
rs13050872	0.81[ASN][1000 genomes]
rs1347324	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1821431	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294157	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329899	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2329900	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2838673	0.84[EUR][1000 genomes]
rs2838675	0.85[EUR][1000 genomes]
rs2838686	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838699	0.81[ASN][1000 genomes]
rs35209090	1.00[ASN][1000 genomes]
rs35242981	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35933313	1.00[ASN][1000 genomes]
rs3788136	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4239838	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818734	0.86[ASN][1000 genomes]
rs4818973	0.85[EUR][1000 genomes]
rs4818974	0.85[EUR][1000 genomes]
rs4818975	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62220109	0.97[ASN][1000 genomes]
rs62222752	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6518204	1.00[ASN][1000 genomes]
rs7281735	0.92[ASN][1000 genomes]
rs733161	0.85[EUR][1000 genomes]
rs760432	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8103	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128992	0.81[EUR][1000 genomes]
rs8133039	0.87[EUR][1000 genomes]
rs885655	0.85[EUR][1000 genomes]
rs885656	0.85[EUR][1000 genomes]
rs885657	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2838678	UBE2G2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46185800-46192600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr21:46185800-46199600	Weak transcription	Stomach Mucosa	stomach
3	chr21:46186200-46199400	Weak transcription	Right Atrium	heart
4	chr21:46186400-46191000	Weak transcription	K562	blood
5	chr21:46187000-46191000	Weak transcription	Brain Angular Gyrus	brain
6	chr21:46187000-46193000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:46187000-46193200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:46187000-46195400	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr21:46187000-46213000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr21:46187200-46194600	Weak transcription	NHDF-Ad	bronchial
11	chr21:46187200-46197800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr21:46187600-46196200	Strong transcription	Thymus	Thymus
13	chr21:46187800-46196600	Strong transcription	Right Ventricle	heart
14	chr21:46187800-46199000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:46187800-46206200	Strong transcription	Fetal Thymus	thymus
16	chr21:46188000-46193000	Strong transcription	Fetal Intestine Small	intestine
17	chr21:46188000-46193400	Strong transcription	Lung	lung
18	chr21:46188000-46195800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr21:46188000-46196800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr21:46188000-46198600	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr21:46188000-46198600	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr21:46188000-46198800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:46188000-46199000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr21:46188000-46201600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr21:46188000-46203000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr21:46188000-46203200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:46188000-46208000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr21:46188200-46193400	Strong transcription	Placenta	Placenta
29	chr21:46188200-46195000	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr21:46188200-46197000	Strong transcription	Fetal Brain Female	brain
31	chr21:46188200-46197200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr21:46188200-46197200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr21:46188200-46197400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr21:46188200-46198800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr21:46188200-46199000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr21:46188200-46199800	Strong transcription	Primary T cells from cord blood	blood
37	chr21:46188200-46201600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr21:46188400-46191200	Strong transcription	HSMM	muscle
39	chr21:46188400-46193400	Strong transcription	Esophagus	oesophagus
40	chr21:46188400-46193400	Strong transcription	Fetal Muscle Leg	muscle
41	chr21:46188400-46194800	Strong transcription	Rectal Smooth Muscle	rectum
42	chr21:46188400-46196000	Strong transcription	Ovary	ovary
43	chr21:46188400-46196800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr21:46188400-46197000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr21:46188400-46198600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr21:46188400-46198600	Strong transcription	Adipose Nuclei	Adipose
47	chr21:46188400-46199400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr21:46188600-46197400	Strong transcription	Liver	Liver
49	chr21:46188600-46198400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr21:46188600-46200200	Strong transcription	Primary T cells fromperipheralblood	blood

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