Variant report

Variant	rs2838686
Chromosome Location	chr21:46207482-46207483
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46194639..46196817-chr21:46205284..46207754,2	K562	blood:
2	chr21:46205065..46208052-chr21:46221302..46222914,2	K562	blood:
3	chr21:46204105..46208556-chr21:46233916..46237563,3	K562	blood:
4	chr21:46188583..46191160-chr21:46207285..46209699,2	K562	blood:
5	chr21:46207093..46209545-chr21:46210264..46213746,3	K562	blood:
6	chr21:46204523..46207372-chr21:46207396..46209187,2	MCF-7	breast:
7	chr21:46193680..46195853-chr21:46205901..46207775,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236519	Chromatin interaction
ENSG00000184787	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1071792	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11088963	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1109280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11701732	0.93[ASN][1000 genomes]
rs11702064	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs11702743	0.88[ASN][1000 genomes]
rs13049657	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs13050872	1.00[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs1347324	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1821431	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294157	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329899	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2329900	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2838673	0.84[EUR][1000 genomes]
rs2838675	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs2838678	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838699	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs35209090	1.00[ASN][1000 genomes]
rs35242981	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35933313	1.00[ASN][1000 genomes]
rs3788136	1.00[CEU][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4239838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818734	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs4818973	0.84[EUR][1000 genomes]
rs4818974	0.84[EUR][1000 genomes]
rs4818975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62220109	0.97[ASN][1000 genomes]
rs62222752	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6518204	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7281735	0.92[ASN][1000 genomes]
rs733161	0.84[EUR][1000 genomes]
rs760431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs760432	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128992	0.80[EUR][1000 genomes]
rs8133039	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs885655	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs885656	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs885657	0.84[CEU][hapmap];0.84[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
rs2838686	UBE2G2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46187000-46213000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr21:46188000-46208000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr21:46188600-46208000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr21:46189000-46221000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr21:46189600-46207800	Strong transcription	Dnd41	blood
6	chr21:46190800-46209600	Weak transcription	Fetal Brain Male	brain
7	chr21:46193400-46212600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr21:46193800-46212800	Weak transcription	Psoas Muscle	Psoas
9	chr21:46195000-46211200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr21:46195000-46212600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr21:46195000-46219800	Weak transcription	Small Intestine	intestine
12	chr21:46195400-46220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:46195600-46211400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr21:46196000-46211800	Weak transcription	NHLF	lung
15	chr21:46197200-46213000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr21:46197200-46220400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr21:46197400-46212800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr21:46198600-46212000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr21:46198800-46208000	Strong transcription	K562	blood
20	chr21:46198800-46211400	Weak transcription	HUVEC	blood vessel
21	chr21:46198800-46213000	Weak transcription	Brain Angular Gyrus	brain
22	chr21:46198800-46219600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr21:46198800-46220000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr21:46198800-46220000	Weak transcription	Fetal Kidney	kidney
25	chr21:46199800-46209400	Weak transcription	NHDF-Ad	bronchial
26	chr21:46200000-46220400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr21:46200400-46212800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr21:46200400-46218200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr21:46200600-46212800	Weak transcription	Colon Smooth Muscle	Colon
30	chr21:46200800-46207800	Strong transcription	Primary T cells from cord blood	blood
31	chr21:46201200-46220400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr21:46201400-46211200	Weak transcription	Colonic Mucosa	Colon
33	chr21:46201600-46212600	Weak transcription	Gastric	stomach
34	chr21:46201600-46212800	Weak transcription	Right Atrium	heart
35	chr21:46201600-46212800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr21:46202200-46208000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr21:46202400-46207600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr21:46202400-46219200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr21:46202600-46208000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr21:46203000-46207600	Strong transcription	Primary B cells from cord blood	blood
41	chr21:46203000-46207800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr21:46203200-46207800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr21:46203400-46207600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr21:46203400-46220000	Weak transcription	Fetal Brain Female	brain
45	chr21:46203600-46207800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr21:46203600-46207800	Strong transcription	Fetal Intestine Small	intestine
47	chr21:46203800-46207600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr21:46204000-46207800	Strong transcription	Fetal Stomach	stomach
49	chr21:46204000-46208000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr21:46204000-46212600	Weak transcription	Ovary	ovary

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