Variant report

Variant	rs7526537
Chromosome Location	chr1:246871393-246871394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246857655..246865600-chr1:246867157..246874213,9	MCF-7	breast:
2	chr1:246869676..246875291-chr1:246885182..246892205,11	MCF-7	breast:
3	chr1:246871057..246874045-chr1:247092351..247094206,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143653	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12725791	0.83[EUR][1000 genomes]
rs3007307	0.84[EUR][1000 genomes]
rs3007308	0.86[EUR][1000 genomes]
rs3007310	0.82[EUR][1000 genomes]
rs3007311	0.88[EUR][1000 genomes]
rs3007312	0.88[EUR][1000 genomes]
rs3007313	0.88[EUR][1000 genomes]
rs3007316	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs3007317	0.83[ASN][1000 genomes]
rs3007411	0.80[ASN][1000 genomes]
rs6426323	0.89[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6426326	0.83[ASN][1000 genomes]
rs72764626	0.83[ASN][1000 genomes]
rs7416239	0.83[ASN][1000 genomes]
rs7520737	0.85[EUR][1000 genomes]
rs7532928	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs7532929	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9426213	0.87[EUR][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	nsv1002805	chr1:246608164-246890518	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535413	chr1:246608164-246890518	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv430413	chr1:246845971-246975015	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv873422	chr1:246854862-247002638	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr1:246862600-246872800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:246866600-246874000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:246867400-246872400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:246867400-246872600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:246869800-246872600	Enhancers	HepG2	liver
6	chr1:246869800-246873200	Enhancers	Liver	Liver
7	chr1:246870000-246871600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:246870000-246872600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:246870000-246873600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:246870200-246871400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:246870200-246871400	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:246870200-246873200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:246870200-246873800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:246870400-246871400	Enhancers	Stomach Mucosa	stomach
15	chr1:246870400-246872400	Weak transcription	Fetal Intestine Large	intestine
16	chr1:246870600-246872000	Enhancers	Placenta	Placenta
17	chr1:246870800-246871600	Enhancers	Dnd41	blood
18	chr1:246870800-246871800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:246870800-246873400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr1:246870800-246873800	Enhancers	Small Intestine	intestine
21	chr1:246871000-246871400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr1:246871000-246871400	Enhancers	Fetal Intestine Small	intestine
23	chr1:246871000-246871400	Enhancers	Osteobl	bone
24	chr1:246871000-246871600	Enhancers	Hela-S3	cervix
25	chr1:246871000-246871600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr1:246871000-246871800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:246871000-246871800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:246871000-246873800	Enhancers	Primary B cells from cord blood	blood
29	chr1:246871200-246871400	Enhancers	NHLF	lung

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