Variant report

Variant	rs11858342
Chromosome Location	chr15:44070478-44070479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:44066200..44071612-chr15:44082403..44086035,7	K562	blood:
2	chr15:44060010..44065607-chr15:44066577..44070669,7	K562	blood:
3	chr15:44067716..44069540-chr15:44069766..44073252,3	MCF-7	breast:
4	chr15:44065408..44074556-chr15:44080543..44088380,28	MCF-7	breast:
5	chr15:44062113..44074982-chr15:44088756..44097846,29	MCF-7	breast:
6	chr15:44065227..44073214-chr15:44081584..44094479,46	MCF-7	breast:
7	chr15:44060550..44065898-chr15:44066868..44071265,7	MCF-7	breast:
8	chr15:44068154..44070774-chr15:44115060..44118766,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000140264	Chromatin interaction
ENSG00000140259	Chromatin interaction
ENSG00000242028	Chromatin interaction
ENSG00000167004	Chromatin interaction
ENSG00000221792	Chromatin interaction
ENSG00000184716	Chromatin interaction
ENSG00000128886	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11856120	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11858955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41277700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45629234	1.00[AMR][1000 genomes];0.86[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	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
9	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
10	nsv1036318	chr15:44053617-44160773	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44068800-44073200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:44069800-44070600	Flanking Active TSS	Dnd41	blood
3	chr15:44070000-44070600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:44070000-44070600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:44070000-44070600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr15:44070000-44070800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:44070000-44071200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:44070000-44071200	Weak transcription	Spleen	Spleen
9	chr15:44070000-44072800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:44070200-44070600	Enhancers	Primary T cells from cord blood	blood
11	chr15:44070200-44070600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr15:44070200-44070600	Enhancers	Placenta	Placenta
13	chr15:44070200-44070600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr15:44070200-44070800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr15:44070200-44070800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr15:44070200-44070800	Enhancers	Primary B cells from cord blood	blood
17	chr15:44070200-44070800	Enhancers	Primary B cells from peripheral blood	blood
18	chr15:44070200-44070800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr15:44070200-44070800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:44070200-44070800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:44070200-44070800	Enhancers	Adipose Nuclei	Adipose
22	chr15:44070200-44070800	Enhancers	Fetal Intestine Large	intestine
23	chr15:44070200-44070800	Enhancers	Fetal Muscle Leg	muscle
24	chr15:44070200-44071200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr15:44070200-44071200	Weak transcription	GM12878-XiMat	blood
26	chr15:44070200-44071400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr15:44070200-44071400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr15:44070200-44071400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr15:44070200-44071400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr15:44070200-44071600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr15:44070200-44072800	Weak transcription	K562	blood
32	chr15:44070200-44083800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:44070200-44083800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr15:44070200-44083800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr15:44070200-44083800	Weak transcription	NHDF-Ad	bronchial
36	chr15:44070200-44083800	Weak transcription	NHEK	skin
37	chr15:44070400-44070600	Enhancers	Stomach Mucosa	stomach
38	chr15:44070400-44070800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:44070400-44070800	Flanking Active TSS	Hela-S3	cervix

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