Variant report

Variant	rs2291832
Chromosome Location	chr1:222826481-222826482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222814486..222818749-chr1:222824063..222828409,6	K562	blood:
2	chr1:222824936..222827816-chr1:222831585..222834058,2	K562	blood:
3	chr1:222816190..222823911-chr1:222823944..222830315,13	K562	blood:
4	chr1:222819931..222824130-chr1:222824543..222830259,6	MCF-7	breast:
5	chr1:222819105..222820831-chr1:222824168..222826539,3	K562	blood:
6	chr1:222825557..222827908-chr1:222837383..222838889,2	K562	blood:

Variant related genes	Relation type
ENSG00000229399	Chromatin interaction
ENSG00000154305	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10495198	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1133220	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12043288	0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12138316	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17011666	0.86[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17011681	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17163301	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17163313	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17163345	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17163358	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17163360	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17163363	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17465637	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17465940	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17465982	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17532708	0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1909195	0.92[ASN][1000 genomes]
rs1909197	0.86[ASN][1000 genomes]
rs2088514	0.82[JPT][hapmap]
rs2133187	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2133189	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2270707	0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2291834	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2378584	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28709375	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34032254	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34767248	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35158675	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35175385	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35626308	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35700460	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35725247	0.87[ASN][1000 genomes]
rs3748626	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4282830	0.85[ASN][1000 genomes]
rs4575092	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4846384	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4846769	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4846770	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61824331	0.87[ASN][1000 genomes]
rs67180937	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71524942	0.91[EUR][1000 genomes];0.89[ASN][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222818400-222826600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:222818400-222827600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:222818400-222833600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:222818800-222841600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:222819000-222841800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:222819200-222841400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:222819200-222841600	Strong transcription	Placenta	Placenta
8	chr1:222819400-222826800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:222819400-222828000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:222819400-222841200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:222819600-222826600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr1:222819800-222828000	Strong transcription	Osteobl	bone
13	chr1:222820000-222827600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:222820000-222827600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:222820000-222827800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:222820000-222838800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:222820000-222841400	Strong transcription	HSMM	muscle
18	chr1:222820000-222841600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:222820200-222827000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:222820200-222827600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr1:222820200-222827800	Strong transcription	Liver	Liver
22	chr1:222820200-222838800	Strong transcription	NHDF-Ad	bronchial
23	chr1:222820200-222841400	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:222820200-222841400	Strong transcription	NH-A	brain
25	chr1:222820400-222826800	Strong transcription	Primary hematopoietic stem cells	blood
26	chr1:222820400-222827600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:222820400-222841800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:222820600-222827400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:222820600-222841200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:222820600-222841400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr1:222820800-222841000	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:222820800-222841200	Strong transcription	Fetal Intestine Large	intestine
33	chr1:222821000-222827800	Strong transcription	Primary B cells from cord blood	blood
34	chr1:222821000-222840000	Strong transcription	Fetal Kidney	kidney
35	chr1:222821200-222841400	Strong transcription	Adipose Nuclei	Adipose
36	chr1:222821400-222840000	Strong transcription	Fetal Brain Female	brain
37	chr1:222822000-222826800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:222822200-222829400	Strong transcription	Thymus	Thymus
39	chr1:222822200-222838800	Strong transcription	Colon Smooth Muscle	Colon
40	chr1:222822200-222841200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:222822200-222841400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:222822400-222828200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:222822400-222841200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:222822400-222841400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:222822600-222827600	Strong transcription	HUVEC	blood vessel
46	chr1:222822600-222840000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr1:222822600-222841400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:222822600-222841400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:222822800-222840800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr1:222823000-222826800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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