Variant report

Variant	rs12594851
Chromosome Location	chr15:99794453-99794454
allele	A/T
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	TCF12	chr15:99793581-99794455	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr15:99793514-99794557	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr15:99793567-99794521	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr15:99793702-99794469	SK-N-SH	brain:	n/a	n/a
5	IKZF1	chr15:99793742-99794483	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:99791782..99793591-chr15:99794191..99796456,2	K562	blood:

Variant related genes	Relation type
TTC23	TF binding region
ENSG00000264771	TF binding region
HSP90B2P	TF binding region
ENSG00000168904	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10902542	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11247069	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11247070	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11247071	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11247076	0.98[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11247077	0.98[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11247078	0.98[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12439820	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12440060	0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12440737	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12441447	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12441965	0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12441996	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12442505	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12591088	0.83[AMR][1000 genomes]
rs12591268	0.93[AMR][1000 genomes]
rs12591362	0.87[AMR][1000 genomes]
rs12591894	0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12591897	0.98[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12591991	0.93[AMR][1000 genomes]
rs12592035	0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12592064	0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12592097	0.98[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12592717	0.83[AMR][1000 genomes]
rs12592864	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12593076	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12593192	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12593456	0.98[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12593549	0.98[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12594123	0.89[AMR][1000 genomes]
rs12594250	0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12594607	0.98[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12594709	0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12595099	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12595545	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12901547	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12902590	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12904240	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12906323	0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12906924	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12907938	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12908049	0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12910952	0.93[AMR][1000 genomes]
rs12914149	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12914665	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12917176	0.83[AMR][1000 genomes]
rs1510058	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2048302	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2048303	0.98[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2048304	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2089708	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2136629	0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2862141	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28670507	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34087342	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34139963	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34258129	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34423043	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34429509	0.98[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34448644	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34569062	0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34583616	0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34623694	0.89[AMR][1000 genomes]
rs34817204	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34908347	0.93[AMR][1000 genomes]
rs34971332	0.89[AMR][1000 genomes]
rs35103557	0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35108411	0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35137571	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35405100	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35703983	0.98[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35714966	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36074799	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759903	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3784602	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3961782	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4360910	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71399865	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71403440	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71403442	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7163435	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7169355	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7171061	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7172501	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7176859	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7177149	0.89[AMR][1000 genomes]
rs8029457	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8029885	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8031904	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8033266	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531079	chr15:98907913-99878547	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1045124	chr15:99504843-99847210	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv916822	chr15:99621061-99878564	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
13	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
15	nsv1052528	chr15:99736977-99874210	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription 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 target site	47 gene(s)	inside rSNPs	diseases
18	nsv1045367	chr15:99781626-99892182	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99792200-99802800	Weak transcription	Esophagus	oesophagus
2	chr15:99792200-99807400	Weak transcription	Ovary	ovary
3	chr15:99792200-99846400	Weak transcription	Lung	lung
4	chr15:99792400-99804200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:99792600-99795000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:99792600-99832200	Weak transcription	Aorta	Aorta
7	chr15:99792800-99794600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:99792800-99794800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr15:99792800-99796400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:99792800-99796400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:99792800-99798400	Weak transcription	Colon Smooth Muscle	Colon
12	chr15:99792800-99801600	Weak transcription	Fetal Stomach	stomach
13	chr15:99792800-99802800	Weak transcription	A549	lung
14	chr15:99792800-99804200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:99792800-99804600	Weak transcription	Placenta	Placenta
16	chr15:99792800-99847000	Weak transcription	Right Ventricle	heart
17	chr15:99793000-99794800	Enhancers	Dnd41	blood
18	chr15:99793000-99795000	Enhancers	HepG2	liver
19	chr15:99793000-99796000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:99793000-99797800	Weak transcription	Fetal Lung	lung
21	chr15:99793000-99799000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr15:99793000-99799400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:99793000-99803200	Weak transcription	Brain Hippocampus Middle	brain
24	chr15:99793000-99804200	Weak transcription	Fetal Heart	heart
25	chr15:99793000-99804400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr15:99793000-99804600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:99793000-99805400	Weak transcription	Fetal Brain Female	brain
28	chr15:99793000-99823800	Weak transcription	Fetal Brain Male	brain
29	chr15:99793000-99838000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr15:99793000-99850400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:99793000-99866600	Weak transcription	Gastric	stomach
32	chr15:99793200-99796400	Weak transcription	Left Ventricle	heart
33	chr15:99793200-99797600	Weak transcription	Brain Angular Gyrus	brain
34	chr15:99793200-99804200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:99793200-99805600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:99793200-99805800	Weak transcription	Brain Germinal Matrix	brain
37	chr15:99793200-99808000	Weak transcription	Fetal Kidney	kidney
38	chr15:99793200-99822400	Weak transcription	Adipose Nuclei	Adipose
39	chr15:99793400-99794600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:99793400-99795000	Enhancers	HUVEC	blood vessel
41	chr15:99793400-99803000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr15:99793600-99794800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:99793600-99795400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr15:99793800-99796200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr15:99794000-99795000	Flanking Active TSS	Liver	Liver
46	chr15:99794000-99796200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr15:99794000-99797400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr15:99794000-99798400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:99794000-99804200	Weak transcription	Thymus	Thymus
50	chr15:99794000-99804400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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