Variant report

Variant	rs9427229
Chromosome Location	chr1:155731088-155731089
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155729509..155732203-chr1:155826674..155828468,2	K562	blood:
2	chr1:155730706..155733174-chr1:155733951..155736426,2	K562	blood:
3	chr1:155723093..155728376-chr1:155729603..155732543,6	K562	blood:
4	chr1:155729870..155731926-chr1:155731964..155733488,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116580	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10796952	0.89[AMR][1000 genomes]
rs1621690	0.85[AFR][1000 genomes]
rs1625821	1.00[AMR][1000 genomes]
rs1627630	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs168343	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs171168	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749412	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749413	1.00[AMR][1000 genomes]
rs1749414	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749420	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749422	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1756242	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1765280	0.81[AFR][1000 genomes]
rs1765283	0.98[AFR][1000 genomes]
rs1765286	0.86[AFR][1000 genomes]
rs1886618	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2136920	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2175389	1.00[AMR][1000 genomes]
rs2363017	1.00[AMR][1000 genomes]
rs2481623	0.83[AFR][1000 genomes]
rs2485470	0.89[AFR][1000 genomes]
rs2485472	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2666828	0.89[AMR][1000 genomes]
rs2686264	0.89[AMR][1000 genomes]
rs2885676	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2988999	0.89[AMR][1000 genomes]
rs348184	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348188	0.89[AMR][1000 genomes]
rs348189	0.89[AMR][1000 genomes]
rs348191	1.00[AMR][1000 genomes]
rs348193	0.89[AMR][1000 genomes]
rs348197	1.00[AMR][1000 genomes]
rs348199	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348200	1.00[AMR][1000 genomes]
rs348207	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348208	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348209	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35264557	0.89[AMR][1000 genomes]
rs4581273	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs492669	0.89[AMR][1000 genomes]
rs4971058	0.89[AMR][1000 genomes]
rs512551	1.00[AMR][1000 genomes]
rs540380	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs568672	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs606755	1.00[AMR][1000 genomes]
rs607036	0.89[AMR][1000 genomes]
rs617232	0.89[AMR][1000 genomes]
rs6427290	0.85[AFR][1000 genomes]
rs6688399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs670787	0.89[AMR][1000 genomes]
rs708607	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs708609	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs708613	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8179457	1.00[AMR][1000 genomes]
rs822013	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822014	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822017	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822021	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822023	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822024	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822027	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822479	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822481	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822483	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822485	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822487	0.83[AFR][1000 genomes]
rs822492	1.00[AMR][1000 genomes]
rs822496	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs822498	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822522	1.00[AMR][1000 genomes]
rs866603	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427219	0.89[AMR][1000 genomes]
rs9427222	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155715400-155739200	Weak transcription	Fetal Heart	heart
2	chr1:155715400-155789200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:155715600-155764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:155716000-155793400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:155716600-155781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:155717200-155761000	Strong transcription	Fetal Stomach	stomach
7	chr1:155717400-155733400	Strong transcription	Brain Anterior Caudate	brain
8	chr1:155717400-155795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:155717600-155733800	Strong transcription	Spleen	Spleen
10	chr1:155717600-155750200	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:155720000-155732000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:155720200-155732800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:155720200-155732800	Strong transcription	Osteobl	bone
14	chr1:155720200-155733000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:155720200-155733800	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:155720200-155745400	Strong transcription	Fetal Muscle Leg	muscle
17	chr1:155720200-155748600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:155720200-155748800	Strong transcription	Duodenum Mucosa	Duodenum
19	chr1:155720200-155748800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr1:155720200-155749000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:155720200-155749600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:155720200-155750200	Strong transcription	Primary T cells from cord blood	blood
23	chr1:155720200-155750600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:155720200-155755800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:155720200-155756200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:155720200-155756600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:155720200-155798200	Strong transcription	Fetal Thymus	thymus
28	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:155720400-155732600	Strong transcription	HSMM	muscle
30	chr1:155720400-155732800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:155720400-155732800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:155720400-155733000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:155720400-155733000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:155720400-155733800	Strong transcription	Left Ventricle	heart
35	chr1:155720400-155743200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr1:155720400-155743200	Strong transcription	Thymus	Thymus
37	chr1:155720400-155750200	Strong transcription	Adipose Nuclei	Adipose
38	chr1:155720400-155750400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:155720400-155750600	Strong transcription	Dnd41	blood
40	chr1:155720400-155755600	Strong transcription	Placenta	Placenta
41	chr1:155720400-155756400	Strong transcription	Liver	Liver
42	chr1:155720400-155760800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr1:155720400-155796800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:155720600-155732200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr1:155720600-155732200	Strong transcription	Colonic Mucosa	Colon
46	chr1:155720600-155732800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:155720600-155733400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:155720600-155733400	Strong transcription	Brain Germinal Matrix	brain
49	chr1:155720600-155733400	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr1:155720600-155733600	Strong transcription	Skeletal Muscle Male	skeletal muscle

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