Variant report

Variant	rs10233086
Chromosome Location	chr7:111890682-111890683
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	chr7:111845920..111848502-chr7:111890491..111892713,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198839	Chromatin interaction
ENSG00000128512	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10269050	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10953707	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2729532	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2729533	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2729539	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4727765	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730513	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4730522	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62473136	0.93[ASN][1000 genomes]
rs62473142	0.90[ASN][1000 genomes]
rs62473155	0.86[ASN][1000 genomes]
rs6947391	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971586	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6971683	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6972306	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757193	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7790943	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7791520	0.81[ASN][1000 genomes]
rs7792170	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7792614	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7795136	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7810513	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking 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	15 gene(s)	inside rSNPs	diseases
2	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111848000-111892800	Weak transcription	Primary B cells from cord blood	blood
2	chr7:111863800-111900200	Weak transcription	Left Ventricle	heart
3	chr7:111876800-111891800	Weak transcription	Primary T cells from cord blood	blood
4	chr7:111877000-111893600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:111879400-111903000	Weak transcription	Psoas Muscle	Psoas
6	chr7:111879600-111894400	Weak transcription	Pancreas	Pancrea
7	chr7:111879800-111906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:111881800-111906400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:111883400-111897000	Weak transcription	HepG2	liver
10	chr7:111884000-111891200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:111884400-111890800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:111885400-111891400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:111885800-111890800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:111887000-111892200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:111889400-111892400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr7:111889600-111890800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:111889800-111890800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:111890400-111906200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:111890600-111891000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr7:111890600-111891000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
21	chr7:111890600-111891000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
22	chr7:111890600-111891200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
23	chr7:111890600-111891200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
24	chr7:111890600-111891400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
25	chr7:111890600-111892600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr7:111890600-111893600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:111890600-111894200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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