Variant report

Variant	rs10253277
Chromosome Location	chr7:139525978-139525979
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	MAZ	chr7:139525861-139526030	K562	blood:	n/a	chr7:139525907-139525916
2	BHLHE40	chr7:139525825-139526025	K562	blood:	n/a	n/a
3	EGR1	chr7:139525784-139526068	K562	blood:	n/a	n/a
4	EP300	chr7:139525815-139526022	SK-N-SH_RA	brain:	n/a	chr7:139525907-139525916
5	FOSL1	chr7:139525714-139526174	K562	blood:	n/a	chr7:139525906-139525917 chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
6	JUND	chr7:139525731-139526107	K562	blood:	n/a	chr7:139525906-139525917 chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
7	RAD21	chr7:139525832-139526034	SK-N-SH_RA	brain:	n/a	chr7:139525992-139526002
8	FOS	chr7:139525783-139526054	MCF10A-Er-Src	breast:	n/a	chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525906-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
9	RCOR1	chr7:139525856-139526040	K562	blood:	n/a	n/a
10	JUN	chr7:139525412-139526289	K562	blood:	n/a	chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
11	JUND	chr7:139525651-139526227	SK-N-SH	brain:	n/a	chr7:139525906-139525917 chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
12	JUND	chr7:139525726-139526092	HepG2	liver:	n/a	chr7:139525906-139525917 chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
13	JUND	chr7:139525214-139526579	SK-N-SH	brain:	n/a	chr7:139525906-139525917 chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
14	TCF12	chr7:139525315-139526259	SK-N-SH	brain:	n/a	chr7:139525316-139525326
15	JUN	chr7:139525739-139526076	K562	blood:	n/a	chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
16	ATF3	chr7:139525712-139526032	K562	blood:	n/a	n/a
17	FOSL1	chr7:139525779-139526069	K562	blood:	n/a	chr7:139525906-139525917 chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
18	FOS	chr7:139525723-139526088	HUVEC	blood vessel:	n/a	chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525906-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
19	FOSL2	chr7:139525789-139526113	HepG2	liver:	n/a	chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
20	FOSL2	chr7:139525725-139526007	MCF-7	breast:	n/a	chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
21	JUN	chr7:139525848-139526017	HepG2	liver:	n/a	chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
22	JUND	chr7:139525800-139526028	HepG2	liver:	n/a	chr7:139525906-139525917 chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
23	FOS	chr7:139525722-139526067	MCF10A-Er-Src	breast:	n/a	chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525906-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
24	FOS	chr7:139525761-139526067	MCF10A-Er-Src	breast:	n/a	chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525906-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
25	MYC	chr7:139525870-139525982	MCF10A-Er-Src	breast:	n/a	chr7:139525907-139525916
26	FOS	chr7:139525777-139526054	MCF10A-Er-Src	breast:	n/a	chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525906-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
27	FOSL2	chr7:139525576-139526179	SK-N-SH	brain:	n/a	chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
28	EGR1	chr7:139525761-139526048	K562	blood:	n/a	n/a
29	JUN	chr7:139525755-139526041	K562	blood:	n/a	chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917
30	FOSL2	chr7:139525708-139526144	A549	lung:	n/a	chr7:139525906-139525918 chr7:139525907-139525917 chr7:139525907-139525916 chr7:139525904-139525915 chr7:139525908-139525917

No.	Distal block	Cell Line	Cell type
1	chr7:139517568..139521373-chr7:139521587..139526613,5	K562	blood:
2	chr7:139524710..139527393-chr7:139527540..139530071,3	K562	blood:
3	chr7:139525637..139527393-chr7:139527540..139529526,2	K562	blood:

Variant related genes	Relation type
TBXAS1	TF binding region
ENSG00000059377	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1019178	0.81[GIH][hapmap]
rs10237429	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10256282	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10257313	1.00[CHB][hapmap]
rs10277705	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1074977	1.00[CHB][hapmap]
rs12534299	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs194152	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1990354	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079845	1.00[CHB][hapmap]
rs2107900	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2267679	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2361644	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2361698	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4311593	1.00[CHB][hapmap]
rs4590360	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4725857	0.87[CHD][hapmap];0.88[GIH][hapmap];0.81[TSI][hapmap]
rs4726776	1.00[CHB][hapmap]
rs4726815	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4726838	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727013	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56147462	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6464800	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946849	0.85[ASN][1000 genomes]
rs6949027	1.00[CHB][hapmap]
rs6951759	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.81[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6952056	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap];0.85[ASN][1000 genomes]
rs6952322	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958644	1.00[CHB][hapmap]
rs6969517	0.81[GIH][hapmap]
rs6974960	0.85[ASN][1000 genomes]
rs6980375	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764745	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs764746	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7810415	0.86[GIH][hapmap]
rs9632668	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv464733	chr7:139491967-139539218	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv608473	chr7:139491967-139539218	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139517200-139529200	Weak transcription	Right Atrium	heart
2	chr7:139519200-139528200	Weak transcription	Gastric	stomach
3	chr7:139523200-139526400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:139523400-139526200	Enhancers	Fetal Stomach	stomach
5	chr7:139523400-139526400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:139523800-139526200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:139524600-139526400	Enhancers	Fetal Lung	lung
8	chr7:139524800-139526200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:139525000-139526200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:139525000-139526200	Enhancers	NHLF	lung
11	chr7:139525200-139526000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:139525200-139526200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:139525200-139526200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:139525200-139526200	Enhancers	Osteobl	bone
15	chr7:139525400-139526000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:139525400-139526000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:139525400-139526200	Enhancers	NH-A	brain
18	chr7:139525400-139526200	Enhancers	NHDF-Ad	bronchial
19	chr7:139525400-139526400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:139525400-139528400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:139525600-139526200	Enhancers	HSMM	muscle
22	chr7:139525600-139526200	Bivalent Enhancer	K562	blood
23	chr7:139525600-139526400	Enhancers	HMEC	breast
24	chr7:139525600-139528200	Weak transcription	Placenta	Placenta
25	chr7:139525600-139529000	Weak transcription	Ovary	ovary
26	chr7:139525800-139526000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:139525800-139526200	Enhancers	Stomach Mucosa	stomach
28	chr7:139525800-139526200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr7:139525800-139528200	Weak transcription	Fetal Kidney	kidney

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