Variant report

Variant	rs7178230
Chromosome Location	chr15:44070863-44070864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10163069	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070411	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12443084	0.89[EUR][1000 genomes]
rs2412821	0.84[EUR][1000 genomes]
rs2729494	0.89[EUR][1000 genomes]
rs28410121	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2918947	0.82[EUR][1000 genomes]
rs2930529	0.94[EUR][1000 genomes]
rs2930530	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2930531	0.89[EUR][1000 genomes]
rs3102448	0.87[EUR][1000 genomes]
rs3110081	0.86[EUR][1000 genomes]
rs35822148	0.86[EUR][1000 genomes]
rs3844075	0.90[AFR][1000 genomes]
rs3862143	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3986209	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4644832	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4923964	0.93[EUR][1000 genomes]
rs4923965	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs495880	0.88[EUR][1000 genomes]
rs514311	0.83[EUR][1000 genomes]
rs528764	0.89[EUR][1000 genomes]
rs541871	0.83[EUR][1000 genomes]
rs62018940	0.90[EUR][1000 genomes]
rs62018944	0.88[EUR][1000 genomes]
rs6493090	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs654276	0.88[EUR][1000 genomes]
rs678084	0.89[EUR][1000 genomes]
rs7174260	0.81[AMR][1000 genomes];0.98[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:25 , 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	chr15:44070000-44071200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:44070000-44071200	Weak transcription	Spleen	Spleen
4	chr15:44070000-44072800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:44070200-44071200	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr15:44070200-44071200	Weak transcription	GM12878-XiMat	blood
7	chr15:44070200-44071400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr15:44070200-44071400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr15:44070200-44071400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr15:44070200-44071400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr15:44070200-44071600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr15:44070200-44072800	Weak transcription	K562	blood
13	chr15:44070200-44083800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:44070200-44083800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr15:44070200-44083800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:44070200-44083800	Weak transcription	NHDF-Ad	bronchial
17	chr15:44070200-44083800	Weak transcription	NHEK	skin
18	chr15:44070600-44071600	Enhancers	Dnd41	blood
19	chr15:44070600-44083600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr15:44070600-44083800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr15:44070800-44071600	Enhancers	Hela-S3	cervix
22	chr15:44070800-44071800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:44070800-44072800	Weak transcription	Fetal Intestine Large	intestine
24	chr15:44070800-44074800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr15:44070800-44083600	Weak transcription	Primary T cells fromperipheralblood	blood

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