Variant report

Variant	rs12139271
Chromosome Location	chr1:160638908-160638909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr1:160638802-160639553	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160638640..160640892-chr1:160989316..160991533,2	K562	blood:

Variant related genes	Relation type
ENSG00000228863	TF binding region
SETP9	TF binding region
ENSG00000158769	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12738128	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34129092	1.00[ASN][1000 genomes]
rs34942450	1.00[ASN][1000 genomes]
rs36062794	1.00[ASN][1000 genomes]
rs71628183	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831703	chr1:160496124-160643024	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr1:160633200-160643200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:160636000-160642400	Weak transcription	Spleen	Spleen
3	chr1:160636200-160639800	Weak transcription	Thymus	Thymus
4	chr1:160636200-160640400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:160636200-160643000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:160636400-160642600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:160636400-160645400	Weak transcription	Fetal Intestine Small	intestine
8	chr1:160636600-160642600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:160636800-160641200	Weak transcription	Primary B cells from cord blood	blood
10	chr1:160636800-160641800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr1:160637400-160639600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:160637400-160642000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:160637600-160640600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:160637800-160641800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:160637800-160642600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:160638000-160642200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:160638200-160640600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:160638200-160640600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:160638400-160639400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr1:160638400-160641800	Weak transcription	Primary T cells from cord blood	blood
21	chr1:160638400-160641800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:160638800-160639000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr1:160638800-160639400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr1:160638800-160639600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
25	chr1:160638800-160640200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr1:160638800-160641800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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