Variant report

Variant	rs6540751
Chromosome Location	chr1:212829330-212829331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212796030..212797727-chr1:212828125..212830092,2	K562	blood:
2	chr1:212782090..212783971-chr1:212828532..212830737,2	MCF-7	breast:
3	chr1:212781018..212784048-chr1:212827863..212830952,5	K562	blood:
4	chr1:212825723..212827246-chr1:212828933..212830692,2	MCF-7	breast:
5	chr1:212827941..212830244-chr1:212842971..212844475,2	K562	blood:
6	chr1:212823728..212827413-chr1:212828149..212831399,4	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11571532	1.00[ASN][1000 genomes]
rs11571536	1.00[ASN][1000 genomes]
rs11571538	1.00[ASN][1000 genomes]
rs11571552	1.00[ASN][1000 genomes]
rs17019442	1.00[ASN][1000 genomes]
rs2456825	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35777725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3890801	1.00[ASN][1000 genomes]
rs55854080	1.00[ASN][1000 genomes]
rs6656504	1.00[ASN][1000 genomes]
rs6670396	1.00[ASN][1000 genomes]
rs6682816	0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs72756370	1.00[ASN][1000 genomes]
rs72756371	1.00[ASN][1000 genomes]
rs74138596	1.00[ASN][1000 genomes]
rs74138599	1.00[ASN][1000 genomes]
rs74138600	1.00[ASN][1000 genomes]
rs74138601	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7551520	1.00[ASN][1000 genomes]

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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
7	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212818600-212838400	Weak transcription	Right Atrium	heart
2	chr1:212820400-212838600	Weak transcription	Lung	lung
3	chr1:212820600-212829400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:212824200-212838600	Weak transcription	Spleen	Spleen
5	chr1:212828800-212830000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:212828800-212830200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr1:212828800-212830200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:212828800-212830200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:212829000-212829600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:212829000-212829800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:212829000-212830400	Enhancers	HMEC	breast
12	chr1:212829000-212830400	Enhancers	NHDF-Ad	bronchial
13	chr1:212829000-212830600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:212829000-212830600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:212829000-212831000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:212829200-212829800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:212829200-212830000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:212829200-212830000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:212829200-212830000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:212829200-212830000	Enhancers	NHEK	skin
21	chr1:212829200-212830000	Enhancers	Osteobl	bone
22	chr1:212829200-212830200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:212829200-212830600	Enhancers	NHLF	lung

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