Variant report

Variant	rs8115484
Chromosome Location	chr20:25522806-25522807
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25518724..25523016-chr20:25601749..25604904,3	MCF-7	breast:
2	chr20:25521309..25522938-chr20:25526944..25528978,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170191	Chromatin interaction
ENSG00000213742	Chromatin interaction

Extended variants
information (count: 177 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs10485776	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109100	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987767	0.95[EUR][1000 genomes]
rs16987786	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16987789	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16987799	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987820	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987934	0.92[EUR][1000 genomes]
rs1891771	0.85[EUR][1000 genomes]
rs1936188	0.87[EUR][1000 genomes]
rs1936190	0.85[EUR][1000 genomes]
rs2179458	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242133	0.82[EUR][1000 genomes]
rs2424719	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35516971	0.85[EUR][1000 genomes]
rs35666277	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3813916	0.90[EUR][1000 genomes]
rs400070	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs402120	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs409322	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs409401	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41308623	0.87[EUR][1000 genomes]
rs426563	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs428278	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4318454	0.87[EUR][1000 genomes]
rs4368405	0.90[EUR][1000 genomes]
rs440612	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs447808	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4813570	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58184048	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58877578	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59324912	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59399848	0.90[EUR][1000 genomes]
rs59546510	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037128	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6037131	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037133	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6037159	0.95[EUR][1000 genomes]
rs6037161	0.95[EUR][1000 genomes]
rs6037164	0.90[EUR][1000 genomes]
rs6037166	0.90[EUR][1000 genomes]
rs6037167	0.90[EUR][1000 genomes]
rs6037168	0.85[EUR][1000 genomes]
rs6037196	0.90[EUR][1000 genomes]
rs6037204	0.84[EUR][1000 genomes]
rs6037206	0.90[EUR][1000 genomes]
rs6037222	0.90[EUR][1000 genomes]
rs60463280	0.82[EUR][1000 genomes]
rs6050594	0.95[EUR][1000 genomes]
rs6050597	0.95[EUR][1000 genomes]
rs6050651	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050658	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050663	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050692	0.95[EUR][1000 genomes]
rs6050709	0.93[EUR][1000 genomes]
rs6050710	0.93[EUR][1000 genomes]
rs6050712	0.95[EUR][1000 genomes]
rs6050714	0.95[EUR][1000 genomes]
rs6050717	0.95[EUR][1000 genomes]
rs6050720	0.85[EUR][1000 genomes]
rs6050723	0.90[EUR][1000 genomes]
rs6050724	0.90[EUR][1000 genomes]
rs6050725	0.90[EUR][1000 genomes]
rs6050726	0.90[EUR][1000 genomes]
rs6050727	0.90[EUR][1000 genomes]
rs6050729	0.90[EUR][1000 genomes]
rs6050730	0.90[EUR][1000 genomes]
rs6050732	0.81[EUR][1000 genomes]
rs6050733	0.82[EUR][1000 genomes]
rs6050737	0.85[EUR][1000 genomes]
rs6050743	0.87[EUR][1000 genomes]
rs6050745	0.87[EUR][1000 genomes]
rs6050749	0.87[EUR][1000 genomes]
rs6050753	0.85[EUR][1000 genomes]
rs6050754	0.85[EUR][1000 genomes]
rs6050755	0.83[EUR][1000 genomes]
rs6050756	0.85[EUR][1000 genomes]
rs6050767	0.90[EUR][1000 genomes]
rs6050770	0.90[EUR][1000 genomes]
rs6050801	0.90[EUR][1000 genomes]
rs6050805	0.90[EUR][1000 genomes]
rs6083886	0.97[EUR][1000 genomes]
rs60897995	0.90[EUR][1000 genomes]
rs61052177	0.90[EUR][1000 genomes]
rs61494938	0.90[EUR][1000 genomes]
rs66467007	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66501707	0.95[EUR][1000 genomes]
rs66591653	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66673357	0.95[EUR][1000 genomes]
rs66813885	0.85[EUR][1000 genomes]
rs66927803	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66940055	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66983770	0.85[EUR][1000 genomes]
rs67069812	0.95[EUR][1000 genomes]
rs67359112	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67455519	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67482703	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67679582	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67680401	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67921634	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68149491	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68165049	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7260843	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7261537	0.95[EUR][1000 genomes]
rs7261902	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7262450	0.95[EUR][1000 genomes]
rs7266130	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7266592	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7273525	0.95[EUR][1000 genomes]
rs7274550	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73331863	0.95[EUR][1000 genomes]
rs73331878	0.95[EUR][1000 genomes]
rs73333512	0.90[EUR][1000 genomes]
rs73333513	0.95[EUR][1000 genomes]
rs73337339	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337343	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337346	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337349	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337355	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73337356	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73337364	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73337366	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73337369	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73337372	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73337394	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73337401	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73339323	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73339335	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73339360	0.95[EUR][1000 genomes]
rs73339379	0.97[EUR][1000 genomes]
rs73339383	0.92[EUR][1000 genomes]
rs73341305	0.87[EUR][1000 genomes]
rs73341314	0.90[EUR][1000 genomes]
rs73341328	0.90[EUR][1000 genomes]
rs73341365	0.90[EUR][1000 genomes]
rs73343275	0.90[EUR][1000 genomes]
rs73343292	0.90[EUR][1000 genomes]
rs73345249	0.90[EUR][1000 genomes]
rs73345264	0.87[EUR][1000 genomes]
rs73345278	0.85[EUR][1000 genomes]
rs73345286	0.85[EUR][1000 genomes]
rs7346687	0.83[EUR][1000 genomes]
rs73597810	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73597811	1.00[ASN][1000 genomes]
rs73597812	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73597813	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73614590	0.95[EUR][1000 genomes]
rs73614591	0.95[EUR][1000 genomes]
rs73614594	0.95[EUR][1000 genomes]
rs742435	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742436	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8115742	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8117181	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8117253	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8120065	0.90[EUR][1000 genomes]
rs8120594	0.95[EUR][1000 genomes]
rs8120972	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8121013	0.87[EUR][1000 genomes]
rs8125002	0.90[EUR][1000 genomes]
rs8126111	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8126236	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067379	chr20:25355484-25593240	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 target site	24 gene(s)	inside rSNPs	diseases
2	nsv1060591	chr20:25388781-25628750	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544223	chr20:25388781-25628750	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
4	nsv1067441	chr20:25397566-25615439	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv912828	chr20:25433015-25595175	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1062452	chr20:25438025-25590278	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1066066	chr20:25439367-25588016	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv544224	chr20:25439367-25588016	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv912829	chr20:25444242-25595175	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv912830	chr20:25449945-25595175	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv912831	chr20:25449945-25595868	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv994976	chr20:25466406-25593286	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv534623	chr20:25466406-25593296	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1062765	chr20:25466482-25556751	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv544225	chr20:25466482-25556751	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv2762069	chr20:25506582-25619528	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs8115484	RP4-694B14.5	cis	lung	GTEx
rs8115484	ZNF337	cis	lung	GTEx
rs8115484	RP4-694B14.5	cis	Stomach	GTEx
rs8115484	NINL	cis	Nerve Tibial	GTEx
rs8115484	ZNF337	cis	Stomach	GTEx
rs8115484	ZNF337	cis	Adipose Subcutaneous	GTEx
rs8115484	ZNF337	cis	Thyroid	GTEx
rs8115484	RP4-694B14.5	cis	Adipose Subcutaneous	GTEx
rs8115484	RP4-694B14.5	cis	Thyroid	GTEx

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25498200-25532200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:25517800-25554600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr20:25518800-25524400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr20:25518800-25530200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr20:25519400-25524000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr20:25519600-25523000	Enhancers	Fetal Intestine Large	intestine
7	chr20:25519800-25523000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr20:25519800-25523000	Enhancers	Fetal Thymus	thymus
9	chr20:25520000-25532000	Weak transcription	Dnd41	blood
10	chr20:25520200-25529000	Weak transcription	Stomach Mucosa	stomach
11	chr20:25520400-25523200	Enhancers	Fetal Intestine Small	intestine
12	chr20:25520400-25525000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:25520600-25527400	Weak transcription	Lung	lung
14	chr20:25520600-25528800	Weak transcription	Gastric	stomach
15	chr20:25520800-25524200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr20:25520800-25524800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:25521000-25523000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr20:25521000-25530200	Weak transcription	Brain Germinal Matrix	brain
19	chr20:25521200-25523200	Enhancers	Fetal Lung	lung
20	chr20:25521200-25529200	Weak transcription	Placenta	Placenta
21	chr20:25521200-25530600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr20:25521400-25523000	Enhancers	Liver	Liver
23	chr20:25521400-25523800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr20:25521400-25523800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:25521400-25523800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr20:25521400-25523800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr20:25521400-25524000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr20:25521400-25524000	Weak transcription	Esophagus	oesophagus
29	chr20:25521400-25524800	Weak transcription	Fetal Kidney	kidney
30	chr20:25521400-25525000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr20:25521400-25525000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr20:25521400-25525000	Weak transcription	Brain Substantia Nigra	brain
33	chr20:25521400-25525000	Weak transcription	Fetal Heart	heart
34	chr20:25521400-25525000	Weak transcription	Fetal Muscle Leg	muscle
35	chr20:25521400-25525200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr20:25521400-25525200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr20:25521400-25525200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr20:25521400-25525200	Weak transcription	Brain Anterior Caudate	brain
39	chr20:25521400-25525200	Weak transcription	Fetal Stomach	stomach
40	chr20:25521400-25525400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr20:25521400-25525800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr20:25521400-25525800	Weak transcription	Brain Hippocampus Middle	brain
43	chr20:25521400-25525800	Enhancers	Osteobl	bone
44	chr20:25521400-25529200	Weak transcription	Ovary	ovary
45	chr20:25521400-25530000	Weak transcription	HSMM	muscle
46	chr20:25521400-25532200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr20:25521400-25534200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr20:25521600-25523000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr20:25521600-25523000	Enhancers	Duodenum Mucosa	Duodenum
50	chr20:25521600-25523200	Enhancers	Adipose Nuclei	Adipose

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