Variant report

Variant	rs74025818
Chromosome Location	chr15:74910628-74910629
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	POLR2A	chr15:74906714-74928682	K562	blood:	n/a	n/a
2	POLR2A	chr15:74910626-74910698	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:74910212-74910688	GM12878	blood:	n/a	n/a
4	WRNIP1	chr15:74908011-74911036	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:74910383-74911986	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:74910244-74910635	K562	blood:	n/a	n/a
7	POLR2A	chr15:74910294-74921892	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr15:74910360-74910650	GM06990	blood:	n/a	chr15:74910617-74910626
9	POLR2A	chr15:74910416-74911246	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74782343..74784266-chr15:74908985..74910885,2	MCF-7	breast:
2	chr15:74909806..74912416-chr15:75659270..75660874,2	MCF-7	breast:
3	chr15:74909966..74912107-chr15:74947107..74949319,2	K562	blood:

Variant related genes	Relation type
CLK3	TF binding region
ENSG00000260919	TF binding region
ENSG00000179151	Chromatin interaction
ENSG00000260274	Chromatin interaction
ENSG00000212279	Chromatin interaction
ENSG00000260103	Chromatin interaction
ENSG00000140400	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10459648	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11072492	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11072493	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11072494	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11072495	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11072496	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072497	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072498	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11629749	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11629946	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12437519	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12439113	0.86[ASN][1000 genomes]
rs12441932	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12442013	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12442097	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12594447	0.81[ASN][1000 genomes]
rs1456432	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1821848	0.80[AMR][1000 genomes]
rs2068982	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2198843	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2415241	0.85[ASN][1000 genomes]
rs2415242	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2415245	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4886601	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4887159	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4887160	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4887162	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4887163	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4887165	0.82[ASN][1000 genomes]
rs4887166	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58473469	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6495115	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6495117	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6495118	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6495121	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7161903	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7171838	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7176095	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7177407	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7178568	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7495708	0.81[ASN][1000 genomes]
rs7497342	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8023479	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8023865	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8026181	0.80[AMR][1000 genomes]
rs8026923	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8027066	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8028163	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8028430	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8029116	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8029215	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8037714	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8040745	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8041030	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8041807	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8043082	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9635320	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9672559	0.83[AMR][1000 genomes];0.85[ASN][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	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv1812223	chr15:74869438-74948063	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv904379	chr15:74869438-75027880	Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	esv1814078	chr15:74884447-74948063	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv457204	chr15:74885091-74948063	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv569991	chr15:74885091-74948063	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS 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 target site	40 gene(s)	inside rSNPs	diseases
8	nsv542434	chr15:74885329-74929552	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1047943	chr15:74885329-74940857	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv817698	chr15:74889163-75019449	Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74909000-74911000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr15:74909000-74927000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:74909400-74910800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:74909400-74910800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:74909400-74910800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:74909400-74910800	Enhancers	Brain Hippocampus Middle	brain
7	chr15:74909400-74910800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:74909400-74911200	Enhancers	Stomach Mucosa	stomach
9	chr15:74909400-74911200	Flanking Active TSS	HepG2	liver
10	chr15:74909400-74911400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:74909400-74911600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr15:74909400-74911600	Weak transcription	Aorta	Aorta
13	chr15:74909400-74911600	Enhancers	Pancreas	Pancrea
14	chr15:74909400-74911800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:74909600-74911000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:74909600-74911000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr15:74909600-74911000	Enhancers	Primary T cells from cord blood	blood
18	chr15:74909600-74911000	Enhancers	Brain Angular Gyrus	brain
19	chr15:74909600-74911000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr15:74909600-74911200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:74909600-74911200	Enhancers	Fetal Brain Male	brain
22	chr15:74909600-74911200	Genic enhancers	Fetal Muscle Leg	muscle
23	chr15:74909600-74911200	Enhancers	Psoas Muscle	Psoas
24	chr15:74909600-74911200	Enhancers	Right Ventricle	heart
25	chr15:74909600-74911400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:74909600-74911400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr15:74909600-74911600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:74909600-74911600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr15:74909600-74911600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr15:74909600-74911800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:74909600-74912000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr15:74909600-74913400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr15:74909800-74910800	Enhancers	Brain Anterior Caudate	brain
34	chr15:74909800-74910800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr15:74909800-74910800	Genic enhancers	Thymus	Thymus
36	chr15:74909800-74910800	Enhancers	HUVEC	blood vessel
37	chr15:74909800-74911000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:74909800-74911000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:74909800-74911000	Genic enhancers	Duodenum Mucosa	Duodenum
40	chr15:74909800-74911200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr15:74909800-74911200	Enhancers	Brain Cingulate Gyrus	brain
42	chr15:74909800-74911200	Enhancers	Colon Smooth Muscle	Colon
43	chr15:74909800-74911200	Enhancers	A549	lung
44	chr15:74909800-74911400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr15:74909800-74911400	Enhancers	Liver	Liver
46	chr15:74909800-74911400	Enhancers	Brain Substantia Nigra	brain
47	chr15:74909800-74911400	Enhancers	Stomach Smooth Muscle	stomach
48	chr15:74909800-74911600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr15:74909800-74911600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr15:74909800-74911600	Enhancers	Left Ventricle	heart

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