Variant report

Variant	rs2469235
Chromosome Location	chr15:77305492-77305493
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	PAX5	chr15:77305121-77305627	GM12878	blood:	n/a	n/a
2	STAT5A	chr15:77305138-77306140	GM12878	blood:	n/a	chr15:77305690-77305698 chr15:77306040-77306048
3	ZEB1	chr15:77305403-77305585	GM12878	blood:	n/a	n/a
4	TBL1XR1	chr15:77305470-77305619	GM12878	blood:	n/a	n/a
5	RUNX3	chr15:77305167-77305639	GM12878	blood:	n/a	n/a
6	CTCF	chr15:77305398-77305523	GM19239	blood:	n/a	n/a
7	RUNX3	chr15:77305178-77305614	GM12878	blood:	n/a	n/a
8	NFIC	chr15:77305232-77305589	GM12878	blood:	n/a	n/a
9	MTA3	chr15:77304838-77305663	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77305426..77307546-chr15:77319169..77320927,2	K562	blood:
2	chr15:77303183..77305636-chr15:77307103..77311098,3	K562	blood:

Variant related genes	Relation type
PSTPIP1	TF binding region
ENSG00000140368	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11072639	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs16968616	1.00[CEU][hapmap];0.88[JPT][hapmap];0.96[EUR][1000 genomes]
rs2469228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3812912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4075475	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57036819	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62007170	0.85[ASN][1000 genomes]
rs74024533	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv2758388	chr15:77170550-77373448	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2760041	chr15:77170550-77373448	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv833058	chr15:77235895-77393640	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv517068	chr15:77254544-77381222	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription 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	12 gene(s)	inside rSNPs	diseases
8	esv1808532	chr15:77257714-77332539	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1043017	chr15:77266776-77309938	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1035874	chr15:77266776-77328742	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1822592	chr15:77283956-77332539	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv570111	chr15:77286693-77332606	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv1048833	chr15:77294593-77339260	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv1848501	chr15:77301357-77327571	Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1804890	chr15:77302969-77332482	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv1836749	chr15:77302969-77332606	Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv904414	chr15:77304310-77400388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77289200-77311200	Weak transcription	Aorta	Aorta
2	chr15:77289400-77310000	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:77290200-77306000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:77296600-77306600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr15:77299200-77305600	Genic enhancers	Primary monocytes fromperipheralblood	blood
6	chr15:77302800-77305800	Weak transcription	Adipose Nuclei	Adipose
7	chr15:77302800-77307600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:77303000-77307400	Enhancers	Spleen	Spleen
9	chr15:77303000-77319600	Weak transcription	Pancreas	Pancrea
10	chr15:77304400-77305600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr15:77304400-77305600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:77304400-77309000	Enhancers	Primary B cells from peripheral blood	blood
13	chr15:77304600-77310600	Enhancers	Primary B cells from cord blood	blood
14	chr15:77304800-77306000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:77304800-77312600	Enhancers	Fetal Thymus	thymus
16	chr15:77305000-77306000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr15:77305000-77306000	Enhancers	GM12878-XiMat	blood
18	chr15:77305000-77306200	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr15:77305000-77306200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr15:77305000-77306200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr15:77305000-77306800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr15:77305000-77307200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr15:77305000-77307200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:77305000-77307800	Enhancers	Thymus	Thymus
25	chr15:77305000-77310200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr15:77305200-77305800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr15:77305200-77306000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:77305200-77306600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr15:77305200-77306600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:77305200-77307000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr15:77305200-77307600	Enhancers	Esophagus	oesophagus
32	chr15:77305200-77309000	Enhancers	Primary hematopoietic stem cells	blood
33	chr15:77305200-77309000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:77305400-77305800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr15:77305400-77305800	Active TSS	Duodenum Mucosa	Duodenum
36	chr15:77305400-77306200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr15:77305400-77307200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr15:77305400-77308400	Weak transcription	Stomach Smooth Muscle	stomach

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