Variant report

Variant	rs12221191
Chromosome Location	chr10:5859178-5859179
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr10:5859131-5859731	GM12878	blood:	n/a	n/a
2	SPI1	chr10:5859133-5860070	GM12878	blood:	n/a	n/a
3	NFIC	chr10:5859127-5859882	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:5859129-5859267	H1-hESC	embryonic stem cell:	n/a	n/a
5	NFIC	chr10:5859145-5859812	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5725503..5729426-chr10:5853777..5860412,5	MCF-7	breast:
2	chr10:5857210..5863651-chr10:5869000..5872361,6	MCF-7	breast:
3	chr10:5858242..5861090-chr10:5872989..5875709,2	MCF-7	breast:
4	chr10:5852595..5861125-chr10:5921136..5936216,31	MCF-7	breast:
5	chr10:5857495..5859789-chr10:5881654..5883847,2	K562	blood:

No data

Variant related genes	Relation type
GDI2	TF binding region
ENSG00000134452	Chromatin interaction
ENSG00000134461	Chromatin interaction
ENSG00000108021	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11255139	0.88[ASN][1000 genomes]
rs11255237	0.85[ASN][1000 genomes]
rs11255288	0.87[ASN][1000 genomes]
rs12412199	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1567708	0.85[ASN][1000 genomes]
rs3793714	0.87[ASN][1000 genomes]
rs3924378	0.85[ASN][1000 genomes]
rs57832226	0.85[ASN][1000 genomes]
rs60864347	0.85[ASN][1000 genomes]
rs7089693	0.84[ASN][1000 genomes]
rs7893673	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv515935	chr10:5820394-5869839	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv549896	chr10:5820394-5880066	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers 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	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5856200-5862600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:5856400-5859800	Weak transcription	Esophagus	oesophagus
3	chr10:5856600-5861600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr10:5857000-5860800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr10:5857000-5862200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:5857000-5863600	Enhancers	Primary B cells from cord blood	blood
7	chr10:5857000-5864200	Enhancers	Primary B cells from peripheral blood	blood
8	chr10:5857000-5866800	Weak transcription	NHLF	lung
9	chr10:5857200-5859800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr10:5857400-5859400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:5857400-5859800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:5857400-5860000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr10:5857400-5860800	Weak transcription	Spleen	Spleen
14	chr10:5857400-5861000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr10:5857400-5871400	Weak transcription	Pancreas	Pancrea
16	chr10:5857800-5859400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr10:5858200-5859400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:5858200-5859600	Enhancers	K562	blood
19	chr10:5858400-5859400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr10:5858400-5859600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr10:5858400-5859600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr10:5858400-5859600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr10:5858400-5861600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr10:5858600-5859800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr10:5858800-5859400	Enhancers	GM12878-XiMat	blood
26	chr10:5858800-5859400	Enhancers	HepG2	liver

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