Variant report

Variant	rs17511318
Chromosome Location	chr1:222762958-222762959
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	POLR2A	chr1:222762884-222764007	GM15510	blood:	n/a	n/a
2	SIN3A	chr1:222762806-222763537	GM12878	blood:	n/a	n/a
3	GABPA	chr1:222762696-222764061	SK-N-SH	brain:	n/a	n/a
4	GABPA	chr1:222762931-222763613	Hela-S3	cervix:	n/a	n/a
5	NR2F2	chr1:222762837-222763552	MCF-7	breast:	n/a	n/a
6	SIN3AK20	chr1:222762584-222763738	HCT-116	colon:	n/a	n/a
7	SIN3AK20	chr1:222762787-222763583	PFSK-1	brain:	n/a	n/a
8	ZKSCAN1	chr1:222762898-222763420	Hela-S3	cervix:	n/a	n/a
9	ELF1	chr1:222762935-222763394	K562	blood:	n/a	n/a
10	ETS1	chr1:222762958-222763422	GM12878	blood:	n/a	n/a
11	BHLHE40	chr1:222762671-222763916	K562	blood:	n/a	n/a
12	POLR2A	chr1:222762853-222763603	ECC-1	luminal epithelium:	n/a	n/a
13	SIN3AK20	chr1:222762876-222763346	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr1:222762858-222763571	PANC-1	pancreas:	n/a	n/a
15	USF1	chr1:222762685-222763239	SK-N-SH_RA	brain:	n/a	n/a
16	SP1	chr1:222762880-222763585	A549	lung:	n/a	n/a
17	CBX3	chr1:222762863-222764109	K562	blood:	n/a	n/a
18	RELA	chr1:222762913-222763772	GM19099	blood:	n/a	n/a
19	POLR2A	chr1:222762772-222763588	Raji	blood:	n/a	n/a
20	POLR2A	chr1:222762830-222763714	U87	brain:	n/a	n/a
21	ELK1	chr1:222762823-222763423	Hela-S3	cervix:	n/a	n/a
22	MAX	chr1:222762705-222763912	HepG2	liver:	n/a	chr1:222762832-222762841 chr1:222762834-222762841 chr1:222762906-222762915 chr1:222762828-222762843 chr1:222762831-222762842 chr1:222762830-222762843 chr1:222762833-222762842
23	CREB1	chr1:222762941-222763481	A549	lung:	n/a	n/a
24	NR2F2	chr1:222762256-222763834	K562	blood:	n/a	n/a
25	POLR2A	chr1:222762775-222763914	MCF10A-Er-Src	breast:	n/a	n/a
26	MAX	chr1:222762509-222763726	HCT-116	colon:	n/a	chr1:222762832-222762841 chr1:222762834-222762841 chr1:222762906-222762915 chr1:222762828-222762843 chr1:222762831-222762842 chr1:222762830-222762843 chr1:222762833-222762842
27	MAX	chr1:222762892-222763450	H1-hESC	embryonic stem cell:	n/a	chr1:222762906-222762915
28	MAX	chr1:222762679-222763724	ECC-1	luminal epithelium:	n/a	chr1:222762832-222762841 chr1:222762834-222762841 chr1:222762906-222762915 chr1:222762828-222762843 chr1:222762831-222762842 chr1:222762830-222762843 chr1:222762833-222762842
29	STAT5A	chr1:222762881-222763818	K562	blood:	n/a	chr1:222762939-222762950 chr1:222763010-222763022
30	GABPA	chr1:222762810-222763765	MCF-7	breast:	n/a	n/a
31	GABPA	chr1:222762810-222763778	SK-N-SH	brain:	n/a	n/a
32	MAX	chr1:222762641-222763527	H1-hESC	embryonic stem cell:	n/a	chr1:222762832-222762841 chr1:222762834-222762841 chr1:222762906-222762915 chr1:222762828-222762843 chr1:222762831-222762842 chr1:222762830-222762843 chr1:222762833-222762842
33	SMC3	chr1:222762947-222763516	Hela-S3	cervix:	n/a	n/a
34	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
35	GABPA	chr1:222762714-222763919	A549	lung:	n/a	n/a
36	ELF1	chr1:222762871-222763597	MCF-7	breast:	n/a	n/a
37	ELF1	chr1:222762892-222763657	GM12878	blood:	n/a	n/a
38	SIN3AK20	chr1:222762862-222763336	SK-N-SH	brain:	n/a	n/a
39	USF1	chr1:222762904-222763501	A549	lung:	n/a	n/a
40	POLR2A	chr1:222762926-222763631	GM18526	blood:	n/a	n/a
41	FOSL2	chr1:222762854-222763404	A549	lung:	n/a	n/a
42	HCFC1	chr1:222762363-222763705	K562	blood:	n/a	n/a
43	USF1	chr1:222762615-222763330	H1-hESC	embryonic stem cell:	n/a	n/a
44	ELF1	chr1:222762918-222763623	GM12878	blood:	n/a	n/a
45	ELF1	chr1:222762726-222763810	HCT-116	colon:	n/a	n/a
46	ELK4	chr1:222762770-222763411	Hela-S3	cervix:	n/a	n/a
47	MXI1	chr1:222762724-222763582	HepG2	liver:	n/a	chr1:222762906-222762921 chr1:222762904-222762919
48	MAX	chr1:222762697-222763652	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
49	TBP	chr1:222762916-222763648	Hela-S3	cervix:	n/a	n/a
50	TEAD4	chr1:222762708-222763676	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:222762024..222764722-chr1:222816738..222818394,2	MCF-7	breast:
2	chr1:222762853..222764726-chr1:222816205..222818798,3	MCF-7	breast:
3	chr1:222761959..222766700-chr1:222790061..222794365,7	MCF-7	breast:
4	chr1:222762075..222764721-chr1:222883311..222887470,5	K562	blood:
5	chr1:222760074..222764679-chr1:222790714..222794830,7	K562	blood:
6	chr1:222760324..222764721-chr1:222884429..222887789,6	K562	blood:
7	chr1:222761567..222764879-chr1:222790132..222793494,4	MCF-7	breast:
8	chr1:222761198..222763394-chr1:222816241..222819069,2	K562	blood:
9	chr1:222760723..222765796-chr1:222790714..222795393,9	K562	blood:

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

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1024065	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495194	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MKK][hapmap];0.96[TSI][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17463740	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17464857	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1909194	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982983	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006790	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2936030	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2936039	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2936041	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2936044	0.89[EUR][1000 genomes]
rs2936045	0.89[EUR][1000 genomes]
rs2936046	0.89[EUR][1000 genomes]
rs3002130	0.90[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008594	0.90[CEU][hapmap];0.86[TSI][hapmap]
rs3008645	0.88[EUR][1000 genomes]
rs3008647	0.81[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.81[MKK][hapmap];0.89[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3008653	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3008654	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008655	0.87[EUR][1000 genomes]
rs35750438	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4328077	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122816	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122823	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122834	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122837	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122849	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122850	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122857	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74145503	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs74148133	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74148140	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74148142	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9441828	1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[TSI][hapmap];0.89[EUR][1000 genomes]
rs9441911	1.00[CHD][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222761600-222763800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:222761800-222763000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr1:222761800-222763000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:222761800-222763800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr1:222761800-222764200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr1:222761800-222764200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:222761800-222764200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:222761800-222764200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:222761800-222764600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:222762000-222763000	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr1:222762000-222763600	Active TSS	HMEC	breast
12	chr1:222762000-222763600	Active TSS	K562	blood
13	chr1:222762000-222764000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:222762000-222764200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:222762000-222764200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:222762200-222763000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr1:222762200-222763000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr1:222762200-222763200	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr1:222762200-222763400	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr1:222762200-222763600	Active TSS	Muscle Satellite Cultured Cells	--
21	chr1:222762200-222763600	Active TSS	Stomach Mucosa	stomach
22	chr1:222762200-222763600	Active TSS	NHEK	skin
23	chr1:222762200-222763800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:222762200-222763800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:222762200-222763800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:222762200-222763800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:222762200-222763800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:222762200-222763800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:222762200-222763800	Active TSS	A549	lung
30	chr1:222762200-222764000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:222762200-222764000	Active TSS	Ovary	ovary
32	chr1:222762200-222764200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr1:222762200-222764200	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr1:222762200-222764200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:222762400-222763000	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr1:222762400-222763000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr1:222762400-222763000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr1:222762400-222763000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:222762400-222763000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr1:222762400-222763000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:222762400-222763000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:222762400-222763000	Flanking Active TSS	Liver	Liver
43	chr1:222762400-222763000	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr1:222762400-222763000	Active TSS	Brain Germinal Matrix	brain
45	chr1:222762400-222763000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr1:222762400-222763600	Active TSS	Fetal Stomach	stomach
47	chr1:222762400-222763600	Active TSS	Fetal Thymus	thymus
48	chr1:222762400-222763600	Active TSS	NHDF-Ad	bronchial
49	chr1:222762400-222763800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:222762400-222763800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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