Variant report

Variant	rs11869952
Chromosome Location	chr17:18221713-18221714
allele	C/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	MAFK	chr17:18221504-18221850	IMR90	lung:	n/a	chr17:18221690-18221701 chr17:18221689-18221700 chr17:18221685-18221701 chr17:18221690-18221701 chr17:18221683-18221697 chr17:18221688-18221702 chr17:18221682-18221698 chr17:18221680-18221700 chr17:18221685-18221700
2	MAFF	chr17:18221537-18221814	K562	blood:	n/a	chr17:18221683-18221697 chr17:18221684-18221702
3	MAFK	chr17:18221521-18221750	K562	blood:	n/a	chr17:18221690-18221701 chr17:18221689-18221700 chr17:18221685-18221701 chr17:18221690-18221701 chr17:18221683-18221697 chr17:18221688-18221702 chr17:18221682-18221698 chr17:18221680-18221700 chr17:18221685-18221700
4	MAFK	chr17:18221401-18221841	HepG2	liver:	n/a	chr17:18221690-18221701 chr17:18221689-18221700 chr17:18221685-18221701 chr17:18221690-18221701 chr17:18221683-18221697 chr17:18221688-18221702 chr17:18221682-18221698 chr17:18221680-18221700 chr17:18221685-18221700
5	MAFK	chr17:18221397-18221856	HepG2	liver:	n/a	chr17:18221690-18221701 chr17:18221689-18221700 chr17:18221685-18221701 chr17:18221690-18221701 chr17:18221683-18221697 chr17:18221688-18221702 chr17:18221682-18221698 chr17:18221680-18221700 chr17:18221685-18221700
6	MAFF	chr17:18221513-18221830	HepG2	liver:	n/a	chr17:18221683-18221697 chr17:18221684-18221702

No.	Distal block	Cell Line	Cell type
1	chr17:18118058..18120854-chr17:18219963..18222284,2	K562	blood:
2	chr17:18217609..18225680-chr17:18226125..18232187,14	K562	blood:
3	chr17:18159194..18166260-chr17:18215929..18222740,16	MCF-7	breast:
4	chr17:18160479..18164858-chr17:18221003..18224877,4	MCF-7	breast:
5	chr17:18151039..18153788-chr17:18220969..18222731,2	MCF-7	breast:

Variant related genes	Relation type
TOP3A	TF binding region
ENSG00000177427	Chromatin interaction
ENSG00000267350	Chromatin interaction
ENSG00000177731	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11078415	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11867855	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11867895	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11868708	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11869515	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11871761	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11872031	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12449313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12450760	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12451555	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12451698	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12451807	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12939851	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16961114	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16961133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16961153	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1962949	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962950	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071242	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2273029	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2290502	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2290503	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2290504	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2290505	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2294913	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28364628	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35738574	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817992	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3829956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3862147	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3889544	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4386179	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4450455	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4500798	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4556848	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4925151	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4925177	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4925178	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57490980	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57697650	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59366579	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62072507	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62072509	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62072511	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62072515	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62072537	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62072540	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62072541	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62072544	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62072545	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62072546	0.80[EUR][1000 genomes]
rs6502641	0.85[EUR][1000 genomes]
rs7211573	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7215678	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7405677	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7498	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8081042	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8081155	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8081343	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9901707	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9909104	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9910090	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9913139	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription 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 miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv833386	chr17:18170261-18332726	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1057081	chr17:18171516-18256347	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv543247	chr17:18171516-18256347	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1062368	chr17:18180747-18259234	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv833387	chr17:18200081-18378155	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv1806346	chr17:18200081-18446384	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	esv1812661	chr17:18200081-18446384	Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv428333	chr17:18200081-18446384	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	nsv427992	chr17:18200081-19192047	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
14	nsv521075	chr17:18220770-18227081	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 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	chr17:18218800-18222200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr17:18219000-18221800	ZNF genes & repeats	Fetal Intestine Small	intestine
3	chr17:18219400-18221800	Enhancers	Small Intestine	intestine
4	chr17:18219400-18224200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:18219400-18224200	Enhancers	Fetal Brain Male	brain
6	chr17:18219400-18224400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr17:18219400-18224800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:18219400-18227200	Genic enhancers	Primary T cells fromperipheralblood	blood
9	chr17:18219400-18266000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr17:18219600-18221800	Genic enhancers	Thymus	Thymus
11	chr17:18219600-18222200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr17:18219600-18222400	Genic enhancers	Fetal Thymus	thymus
13	chr17:18219600-18222400	Genic enhancers	HMEC	breast
14	chr17:18219600-18223600	Genic enhancers	Fetal Lung	lung
15	chr17:18219600-18223600	Genic enhancers	Fetal Muscle Leg	muscle
16	chr17:18219600-18223600	Genic enhancers	Fetal Stomach	stomach
17	chr17:18219600-18223800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr17:18219600-18224200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:18219600-18224200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr17:18219600-18224200	Genic enhancers	Liver	Liver
21	chr17:18219600-18224200	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr17:18219600-18224200	Genic enhancers	Left Ventricle	heart
23	chr17:18219600-18224400	Genic enhancers	Placenta	Placenta
24	chr17:18219600-18224600	Enhancers	Right Atrium	heart
25	chr17:18219600-18224800	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr17:18219600-18225000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr17:18219600-18226000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:18219800-18222200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:18219800-18222200	Genic enhancers	Osteobl	bone
30	chr17:18219800-18222400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr17:18219800-18223600	Genic enhancers	Brain Hippocampus Middle	brain
32	chr17:18219800-18223800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr17:18219800-18223800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:18219800-18223800	Genic enhancers	Lung	lung
35	chr17:18219800-18223800	Genic enhancers	NHEK	skin
36	chr17:18219800-18224200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr17:18219800-18224200	Genic enhancers	Esophagus	oesophagus
38	chr17:18219800-18224200	Enhancers	Fetal Heart	heart
39	chr17:18219800-18224400	Genic enhancers	Spleen	Spleen
40	chr17:18219800-18224800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
41	chr17:18219800-18225000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
42	chr17:18219800-18226000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr17:18220000-18221800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
44	chr17:18220000-18221800	Genic enhancers	A549	lung
45	chr17:18220000-18222000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:18220000-18222200	Genic enhancers	Brain Angular Gyrus	brain
47	chr17:18220000-18222800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr17:18220000-18223000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr17:18220000-18223600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr17:18220000-18224200	Genic enhancers	Colonic Mucosa	Colon

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