Variant report

Variant	rs57368671
Chromosome Location	chr7:102529789-102529790
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102529179..102531129-chr7:102713390..102716151,2	MCF-7	breast:
2	chr7:102527046..102528879-chr7:102528977..102531238,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161040	Chromatin interaction
ENSG00000170632	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10257543	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10267275	0.90[ASN][1000 genomes]
rs10273725	0.99[EUR][1000 genomes]
rs10435335	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10487283	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10499952	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1100044	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11543736	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11970869	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11972019	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11972644	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11973870	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11978670	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11978768	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11978799	0.98[EUR][1000 genomes]
rs11980643	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11983456	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11983521	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12056296	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12532495	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12533386	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12538955	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12540384	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12666764	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12667218	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12669668	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12671803	0.92[EUR][1000 genomes]
rs13242493	0.93[EUR][1000 genomes]
rs17136090	0.81[EUR][1000 genomes]
rs17136137	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2009503	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2159022	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2190673	0.95[EUR][1000 genomes]
rs2228686	0.82[EUR][1000 genomes]
rs2411056	0.95[EUR][1000 genomes]
rs2411059	0.93[EUR][1000 genomes]
rs35479298	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3779029	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41501847	0.98[EUR][1000 genomes]
rs4296965	0.91[EUR][1000 genomes]
rs4400322	0.84[AFR][1000 genomes]
rs56894117	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56921864	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57350619	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57545514	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57616389	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57776797	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58191643	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58680618	0.91[EUR][1000 genomes]
rs58814323	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58919995	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59278165	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59544295	0.81[EUR][1000 genomes]
rs59709436	0.81[EUR][1000 genomes]
rs60524601	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60599650	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61404409	0.89[AFR][1000 genomes]
rs61679881	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6465877	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6465878	0.98[EUR][1000 genomes]
rs6465879	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6465882	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6465885	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6942855	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6945369	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6947403	0.93[EUR][1000 genomes]
rs6949150	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6951288	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6953980	0.98[EUR][1000 genomes]
rs6956781	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6957434	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6957771	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6967389	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6968713	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6973081	0.85[AFR][1000 genomes]
rs6975451	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6976005	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6977145	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73406250	0.88[ASN][1000 genomes]
rs73406284	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73406302	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73408204	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73408250	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7779145	0.94[EUR][1000 genomes]
rs7779618	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7796335	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7804322	0.95[EUR][1000 genomes]
rs847646	0.95[EUR][1000 genomes]
rs847652	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs847656	0.95[EUR][1000 genomes]
rs847658	0.95[EUR][1000 genomes]
rs865865	0.95[EUR][1000 genomes]
rs9690210	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv608057	chr7:102440184-102538515	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv5880	chr7:102505158-102550471	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102501200-102530800	Weak transcription	Ovary	ovary
2	chr7:102513800-102531600	Weak transcription	Fetal Brain Male	brain
3	chr7:102517000-102549600	Weak transcription	Gastric	stomach
4	chr7:102517200-102578200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:102522600-102549200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:102526000-102530800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:102527600-102530800	Strong transcription	K562	blood
8	chr7:102528000-102531000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:102528200-102530400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr7:102528200-102530800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:102528200-102530800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:102528400-102530400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:102528600-102530400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:102528600-102530800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:102528600-102534000	Enhancers	HUVEC	blood vessel
16	chr7:102528800-102529800	Enhancers	Stomach Mucosa	stomach
17	chr7:102529000-102529800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:102529000-102530800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr7:102529000-102535600	Weak transcription	Right Atrium	heart
20	chr7:102529200-102530800	Enhancers	Fetal Lung	lung
21	chr7:102529600-102529800	Enhancers	Fetal Stomach	stomach
22	chr7:102529600-102530800	Weak transcription	HepG2	liver
23	chr7:102529600-102531800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:102529600-102533200	Enhancers	A549	lung
25	chr7:102529600-102533600	Enhancers	NHLF	lung

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