Variant report

Variant	rs8111708
Chromosome Location	chr19:18558876-18558877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18557803..18560695-chr19:18845668..18847559,2	K562	blood:
2	chr19:18557059..18559811-chr19:18560376..18564684,4	K562	blood:
3	chr19:18557716..18560306-chr19:18569025..18571583,2	K562	blood:
4	chr19:18557792..18559454-chr19:18878967..18881319,2	MCF-7	breast:
5	chr19:18558483..18560540-chr19:18590272..18592591,2	MCF-7	breast:
6	chr19:18557165..18559502-chr19:18560377..18563066,2	MCF-7	breast:
7	chr19:18558274..18559892-chr19:18572198..18574398,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105662	Chromatin interaction
ENSG00000105656	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10164319	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10403249	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10405479	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405636	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10408290	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10409003	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10409483	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10409505	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10411009	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10413237	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10419404	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10425982	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10427083	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1043327	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10442	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11673604	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12162221	0.86[ASN][1000 genomes]
rs12162223	0.85[ASN][1000 genomes]
rs12981981	0.86[ASN][1000 genomes]
rs1560118	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560119	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs172032	0.86[ASN][1000 genomes]
rs1806980	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2007981	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288428	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2303695	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2303696	0.92[ASN][1000 genomes]
rs2303697	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2385088	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2385089	0.87[EUR][1000 genomes]
rs271621	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs271622	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs271623	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs271624	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs271626	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs271628	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs271629	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28375303	0.84[ASN][1000 genomes]
rs28572537	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34010330	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34053595	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34171762	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34256197	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34509804	0.83[ASN][1000 genomes]
rs34746918	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3810429	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4595905	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808133	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808134	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808136	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808801	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808804	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62121135	0.86[ASN][1000 genomes]
rs7249020	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7251653	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7252707	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7252848	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7253990	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7254249	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7256534	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7257932	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7258465	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs748609	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs76194	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs76195	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8100767	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8103622	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103660	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8105994	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8106096	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8107347	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8107351	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8107367	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107743	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8109573	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs875396	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
3	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
7	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
8	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
9	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8111708	ELL	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18545200-18570000	Weak transcription	Small Intestine	intestine
2	chr19:18549200-18559600	Weak transcription	HSMM	muscle
3	chr19:18549200-18566200	Weak transcription	HUVEC	blood vessel
4	chr19:18549800-18567000	Weak transcription	Psoas Muscle	Psoas
5	chr19:18550200-18559600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:18550600-18562000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:18550800-18569800	Weak transcription	Right Atrium	heart
8	chr19:18551000-18561200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr19:18551600-18561600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:18551600-18570600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:18551800-18561600	Strong transcription	Stomach Smooth Muscle	stomach
12	chr19:18551800-18561800	Strong transcription	Fetal Stomach	stomach
13	chr19:18552800-18562000	Strong transcription	NHLF	lung
14	chr19:18553400-18559000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr19:18553400-18560800	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr19:18553400-18563600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:18553400-18564200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:18553400-18564800	Strong transcription	Lung	lung
19	chr19:18553400-18579000	Weak transcription	Fetal Kidney	kidney
20	chr19:18553600-18562000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:18553600-18564200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:18553600-18564200	Strong transcription	NHEK	skin
23	chr19:18553600-18565000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr19:18553800-18561400	Strong transcription	Gastric	stomach
25	chr19:18553800-18561600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr19:18553800-18561600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:18553800-18561600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:18553800-18561600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:18553800-18561800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr19:18553800-18561800	Strong transcription	Ovary	ovary
31	chr19:18553800-18562000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr19:18553800-18562000	Strong transcription	Fetal Thymus	thymus
33	chr19:18553800-18562000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr19:18553800-18562400	Strong transcription	GM12878-XiMat	blood
35	chr19:18553800-18563000	Strong transcription	Esophagus	oesophagus
36	chr19:18553800-18563000	Strong transcription	Thymus	Thymus
37	chr19:18553800-18565000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr19:18553800-18565400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr19:18553800-18578000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr19:18554000-18561400	Strong transcription	Brain Germinal Matrix	brain
41	chr19:18554000-18561600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:18554000-18561600	Strong transcription	Brain Cingulate Gyrus	brain
43	chr19:18554000-18561600	Strong transcription	Colon Smooth Muscle	Colon
44	chr19:18554000-18563400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:18554000-18577600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:18554200-18559200	Genic enhancers	Placenta	Placenta
47	chr19:18554200-18561200	Strong transcription	Brain Substantia Nigra	brain
48	chr19:18554200-18561200	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr19:18554200-18561600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:18554200-18561600	Strong transcription	Pancreas	Pancrea

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