Variant report

Variant	rs2078028
Chromosome Location	chr2:128264246-128264247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128261114..128269570-chr2:128281581..128286258,13	K562	blood:
2	chr2:128262614..128267545-chr2:128280339..128284643,6	K562	blood:
3	chr2:128263369..128266760-chr2:128270837..128273303,3	K562	blood:
4	chr2:128264079..128266201-chr2:128268340..128270505,2	MCF-7	breast:
5	chr2:128252742..128255070-chr2:128263163..128265839,2	K562	blood:

Variant related genes	Relation type
ENSG00000163166	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10190872	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10206221	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12470481	0.83[ASN][1000 genomes]
rs12475217	0.93[ASN][1000 genomes]
rs12621149	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12987418	0.83[ASN][1000 genomes]
rs13397441	0.86[ASN][1000 genomes]
rs13399231	0.93[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs13415053	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs1549767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17015347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015399	0.85[ASN][1000 genomes]
rs173013	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17522960	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2176595	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2249646	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2566564	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2679402	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2679407	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs334139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.86[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs334142	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs334147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334150	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334153	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334155	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3732208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4423553	1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4662582	0.87[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs55981410	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56217122	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56234754	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58462277	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59934067	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61342606	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6707186	0.82[ASN][1000 genomes]
rs6707425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6713317	0.86[ASW][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap];0.88[YRI][hapmap]
rs6722447	0.93[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs6727506	0.81[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap]
rs6731270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6748790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6748999	0.81[TSI][hapmap]
rs6757654	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72958594	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72958600	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7570609	1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];0.85[LWK][hapmap];0.86[ASN][1000 genomes]
rs7572181	0.86[ASN][1000 genomes]
rs7574209	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7574215	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7576217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7598346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7603777	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs777547	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs777549	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs777550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs777551	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs777557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs777558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs777559	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs777561	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs777562	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs777563	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2078028	DDX43	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128223600-128268800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:128235200-128270000	Strong transcription	Dnd41	blood
3	chr2:128239200-128264800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:128239400-128264400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:128239400-128266200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:128239400-128266400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:128240600-128265600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:128246200-128271800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:128248000-128264800	Weak transcription	Fetal Heart	heart
10	chr2:128257600-128265800	Weak transcription	Psoas Muscle	Psoas
11	chr2:128262600-128265600	Weak transcription	Fetal Brain Female	brain
12	chr2:128262600-128266000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:128262600-128283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:128263000-128264800	Enhancers	GM12878-XiMat	blood
15	chr2:128263000-128265600	Weak transcription	Small Intestine	intestine
16	chr2:128263000-128265800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:128263000-128265800	Weak transcription	Fetal Brain Male	brain
18	chr2:128263000-128266200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:128263000-128267600	Weak transcription	Stomach Mucosa	stomach
20	chr2:128263000-128272000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:128263000-128281200	Weak transcription	Fetal Kidney	kidney
22	chr2:128263200-128264400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:128263200-128264400	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:128263200-128264400	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:128263200-128264600	Weak transcription	Liver	Liver
26	chr2:128263200-128264600	Weak transcription	Brain Angular Gyrus	brain
27	chr2:128263200-128264600	Weak transcription	K562	blood
28	chr2:128263200-128264800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:128263200-128264800	Weak transcription	Brain Anterior Caudate	brain
30	chr2:128263200-128265000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:128263200-128265000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:128263200-128265000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:128263200-128265200	Weak transcription	HMEC	breast
34	chr2:128263200-128265200	Weak transcription	HUVEC	blood vessel
35	chr2:128263200-128265400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:128263200-128265600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:128263200-128265600	Weak transcription	Adipose Nuclei	Adipose
38	chr2:128263200-128265600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:128263200-128265600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:128263200-128265600	Weak transcription	Left Ventricle	heart
41	chr2:128263200-128265600	Weak transcription	Right Ventricle	heart
42	chr2:128263200-128265800	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:128263200-128265800	Weak transcription	Gastric	stomach
44	chr2:128263200-128265800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:128263200-128266200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:128263200-128266200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr2:128263200-128266400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:128263200-128267000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:128263200-128267400	Weak transcription	Primary B cells from cord blood	blood
50	chr2:128263200-128268600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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