Variant report

Variant	rs2936027
Chromosome Location	chr1:222762316-222762317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr1:222762256-222763834	K562	blood:	n/a	n/a
2	MYC	chr1:222762223-222763947	K562	blood:	n/a	chr1:222762832-222762841 chr1:222762834-222762841 chr1:222762906-222762915 chr1:222762828-222762843 chr1:222762831-222762842 chr1:222762830-222762843 chr1:222762833-222762842
3	MAX	chr1:222762300-222763695	K562	blood:	n/a	chr1:222762832-222762841 chr1:222762834-222762841 chr1:222762906-222762915 chr1:222762828-222762843 chr1:222762831-222762842 chr1:222762830-222762843 chr1:222762833-222762842
4	MXI1	chr1:222761822-222764156	SK-N-SH	brain:	n/a	chr1:222762906-222762921 chr1:222762904-222762919

No.	Distal block	Cell Line	Cell type
1	chr1:222762024..222764722-chr1:222816738..222818394,2	MCF-7	breast:
2	chr1:222761959..222766700-chr1:222790061..222794365,7	MCF-7	breast:
3	chr1:222762075..222764721-chr1:222883311..222887470,5	K562	blood:
4	chr1:222760074..222764679-chr1:222790714..222794830,7	K562	blood:
5	chr1:222760324..222764721-chr1:222884429..222887789,6	K562	blood:
6	chr1:222761567..222764879-chr1:222790132..222793494,4	MCF-7	breast:
7	chr1:222761198..222763394-chr1:222816241..222819069,2	K562	blood:
8	chr1:222760723..222765796-chr1:222790714..222795393,9	K562	blood:

Variant related genes	Relation type
ENSG00000225265	TF binding region
ENSG00000186063	Chromatin interaction
ENSG00000162819	Chromatin interaction
ENSG00000154305	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11485178	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11485180	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11487813	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1319392	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1603742	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17163214	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1909192	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1995152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133185	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2173401	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2378583	1.00[ASW][hapmap];0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2936031	1.00[ASW][hapmap];0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2936034	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2936035	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2936037	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2936038	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2936040	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];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936048	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3002151	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3008641	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3008644	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3008650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4400619	0.96[AMR][1000 genomes];0.92[EUR][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	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv1842070	chr1:222732027-222763235	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	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	chr1:222721800-222762400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:222727600-222762600	Weak transcription	Aorta	Aorta
3	chr1:222727800-222762400	Weak transcription	Thymus	Thymus
4	chr1:222729600-222762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:222731200-222762400	Weak transcription	Spleen	Spleen
6	chr1:222733600-222762400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:222734000-222762400	Weak transcription	Right Ventricle	heart
8	chr1:222734200-222762400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:222742200-222762400	Weak transcription	Fetal Kidney	kidney
10	chr1:222743000-222762400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:222746000-222762600	Weak transcription	Lung	lung
12	chr1:222751000-222762600	Weak transcription	Left Ventricle	heart
13	chr1:222756400-222762400	Weak transcription	Esophagus	oesophagus
14	chr1:222757000-222762400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:222757000-222762400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:222757200-222762400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:222757600-222762400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:222757600-222762400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:222759600-222762400	Weak transcription	Gastric	stomach
20	chr1:222759600-222762400	Weak transcription	Pancreas	Pancrea
21	chr1:222759800-222762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:222760200-222762400	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:222760600-222762400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:222760600-222762400	Weak transcription	Psoas Muscle	Psoas
25	chr1:222760800-222762400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:222761000-222762400	Weak transcription	Fetal Thymus	thymus
27	chr1:222761000-222762600	Weak transcription	Placenta	Placenta
28	chr1:222761200-222762400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:222761200-222762400	Enhancers	Fetal Brain Male	brain
30	chr1:222761600-222762400	Enhancers	Primary T cells from cord blood	blood
31	chr1:222761600-222762400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr1:222761600-222762400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr1:222761600-222762600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:222761600-222762800	Flanking Active TSS	Dnd41	blood
35	chr1:222761600-222763800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:222761800-222762400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:222761800-222762400	Enhancers	Primary B cells from peripheral blood	blood
38	chr1:222761800-222762400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr1:222761800-222762400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:222761800-222762400	Enhancers	Liver	Liver
41	chr1:222761800-222762400	Enhancers	Brain Angular Gyrus	brain
42	chr1:222761800-222762600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr1:222761800-222763000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr1:222761800-222763000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:222761800-222763800	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:222761800-222764200	Active TSS	H1 Cell Line	embryonic stem cell
47	chr1:222761800-222764200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:222761800-222764200	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr1:222761800-222764200	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr1:222761800-222764600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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