Variant report

Variant	rs12910038
Chromosome Location	chr15:76224125-76224126
allele	A/C
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	CTCF	chr15:76223980-76224130	GM12864	blood:	n/a	chr15:76224021-76224030 chr15:76224010-76224031

No.	Distal block	Cell Line	Cell type
1	chr15:76218432..76221221-chr15:76222501..76224322,2	K562	blood:
2	chr15:76222990..76225137-chr15:76232706..76235536,2	K562	blood:
3	chr15:76221926..76224490-chr15:76234036..76236027,2	K562	blood:
4	chr15:76194745..76198135-chr15:76223912..76227637,3	MCF-7	breast:

Variant related genes	Relation type
FBXO22	TF binding region
ENSG00000167196	Chromatin interaction
ENSG00000169752	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11636891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11638364	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12898403	0.82[EUR][1000 genomes]
rs12899204	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12909182	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12910494	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12913434	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12915152	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1499063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17427165	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17427298	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17427842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441930	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs335685	0.81[JPT][hapmap]
rs35031760	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35656041	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3764189	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62027608	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62027611	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62028932	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62028936	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72734564	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72734574	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1044733	chr15:76120924-76228880	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1053717	chr15:76196674-76314542	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1040053	chr15:76197988-76314542	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv904398	chr15:76220285-76359055	Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76198000-76231600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:76198200-76232200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:76198400-76225000	Weak transcription	Fetal Kidney	kidney
4	chr15:76198600-76226400	Weak transcription	Fetal Brain Male	brain
5	chr15:76203800-76230200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:76207000-76226600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:76207000-76228200	Weak transcription	Brain Substantia Nigra	brain
8	chr15:76207000-76228200	Weak transcription	Colonic Mucosa	Colon
9	chr15:76207000-76232000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr15:76207200-76225000	Weak transcription	Spleen	Spleen
11	chr15:76207200-76226600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:76208400-76232800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:76209000-76225000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:76209000-76225000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr15:76210800-76225000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:76211400-76240200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr15:76213000-76224200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr15:76215000-76226600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr15:76215200-76225000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:76215200-76225000	Weak transcription	Colon Smooth Muscle	Colon
21	chr15:76215200-76225000	Weak transcription	Fetal Lung	lung
22	chr15:76215200-76225000	Weak transcription	NHDF-Ad	bronchial
23	chr15:76215200-76229200	Weak transcription	Esophagus	oesophagus
24	chr15:76215400-76227000	Weak transcription	Small Intestine	intestine
25	chr15:76215600-76224200	Weak transcription	Fetal Intestine Small	intestine
26	chr15:76217000-76228400	Weak transcription	Gastric	stomach
27	chr15:76217200-76224200	Weak transcription	Fetal Stomach	stomach
28	chr15:76217200-76224800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:76217200-76225000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:76217200-76225000	Weak transcription	Lung	lung
31	chr15:76217200-76252000	Weak transcription	Pancreas	Pancrea
32	chr15:76217400-76228200	Weak transcription	Right Ventricle	heart
33	chr15:76217600-76228200	Strong transcription	NHEK	skin
34	chr15:76217600-76231800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr15:76217600-76232600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr15:76217800-76225200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr15:76218200-76224800	Weak transcription	Left Ventricle	heart
38	chr15:76218200-76225000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr15:76218400-76224800	Weak transcription	HSMMtube	muscle
40	chr15:76218600-76225000	Weak transcription	Stomach Mucosa	stomach
41	chr15:76218600-76228600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr15:76219000-76232200	Weak transcription	Psoas Muscle	Psoas
43	chr15:76219200-76224600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:76219400-76224200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr15:76219400-76226200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr15:76219600-76225000	Weak transcription	NHLF	lung
47	chr15:76219600-76231200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:76220600-76227800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:76220800-76227000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr15:76221000-76227800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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