Variant report

Variant	rs17790804
Chromosome Location	chr11:47447202-47447203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47198368..47200069-chr11:47446814..47449315,2	MCF-7	breast:
2	chr11:47446295..47450524-chr11:47461441..47464685,6	MCF-7	breast:
3	chr11:47420268..47423188-chr11:47445332..47447348,2	K562	blood:
4	chr11:47290429..47293321-chr11:47445782..47448351,3	K562	blood:
5	chr11:47399004..47400770-chr11:47446343..47448819,3	K562	blood:
6	chr11:47290951..47293321-chr11:47445782..47448016,2	K562	blood:
7	chr11:47196939..47199221-chr11:47446629..47449473,2	K562	blood:

Variant related genes	Relation type
ENSG00000264583	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000165917	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000252327	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1044269	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1051006	0.81[CEU][hapmap]
rs10742805	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs10742806	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10742816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10769253	0.81[CEU][hapmap]
rs10769255	0.91[CEU][hapmap]
rs10769267	0.84[ASN][1000 genomes]
rs10838686	0.81[CEU][hapmap]
rs10838689	0.81[CEU][hapmap]
rs11819955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11820650	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11821273	0.91[ASN][1000 genomes]
rs11821860	0.85[ASN][1000 genomes]
rs11821917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11822402	0.85[ASN][1000 genomes]
rs11823490	0.83[ASN][1000 genomes]
rs11824864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11824971	0.84[ASN][1000 genomes]
rs11824990	0.83[ASN][1000 genomes]
rs11827106	0.90[ASN][1000 genomes]
rs11828339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12282783	0.83[ASN][1000 genomes]
rs12419342	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1474056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17198158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2138767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2242511	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2290148	0.81[CEU][hapmap]
rs3729802	0.85[CEU][hapmap]
rs3740684	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs3740685	0.85[ASN][1000 genomes]
rs3781628	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3824867	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs3847503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4147730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4237544	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs4282946	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs4384349	0.92[ASN][1000 genomes]
rs4752783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs4752786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4752829	0.88[JPT][hapmap]
rs4752836	0.85[ASN][1000 genomes]
rs4752837	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4752839	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs4752843	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4752977	0.81[CEU][hapmap]
rs4752983	0.81[CEU][hapmap]
rs4752992	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56756748	0.88[ASN][1000 genomes]
rs59631865	0.91[ASN][1000 genomes]
rs60380053	0.85[ASN][1000 genomes]
rs60882887	0.95[ASN][1000 genomes]
rs60929305	0.84[ASN][1000 genomes]
rs61000762	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7101772	0.87[ASN][1000 genomes]
rs7104366	0.84[ASN][1000 genomes]
rs7105122	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs7105907	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs7106142	0.87[ASN][1000 genomes]
rs7107853	0.84[ASN][1000 genomes]
rs7108143	0.84[ASN][1000 genomes]
rs7111873	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs7117277	0.85[ASN][1000 genomes]
rs7119556	0.84[ASN][1000 genomes]
rs7126210	0.94[JPT][hapmap]
rs7130693	0.85[ASN][1000 genomes]
rs753812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs753992	0.81[CEU][hapmap]
rs7931089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7948705	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs9666924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9734013	0.85[ASN][1000 genomes]
rs9919526	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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS 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	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS 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	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	50 gene(s)	inside rSNPs	diseases
10	nsv975328	chr11:47446815-47471052	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47445800-47447400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr11:47446200-47447800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr11:47446400-47447400	Flanking Active TSS	Brain Anterior Caudate	brain
4	chr11:47446400-47447400	Flanking Active TSS	HUVEC	blood vessel
5	chr11:47446400-47447600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:47446600-47447400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr11:47446600-47447400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr11:47446600-47447400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:47446600-47447400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:47446600-47447400	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr11:47446600-47447400	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr11:47446600-47447400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:47446600-47447400	Flanking Active TSS	Colonic Mucosa	Colon
14	chr11:47446600-47447400	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr11:47446600-47447400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr11:47446600-47447400	Flanking Active TSS	HMEC	breast
17	chr11:47446600-47447600	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr11:47446600-47447600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr11:47446600-47447800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr11:47446600-47448000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:47446600-47448600	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr11:47446600-47449000	Active TSS	Psoas Muscle	Psoas
23	chr11:47446800-47447400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr11:47446800-47447400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:47446800-47447400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr11:47446800-47447400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr11:47446800-47447400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:47446800-47447400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr11:47446800-47447400	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr11:47446800-47447400	Flanking Active TSS	Fetal Brain Male	brain
31	chr11:47446800-47447400	Flanking Active TSS	Fetal Thymus	thymus
32	chr11:47446800-47447400	Flanking Active TSS	Right Ventricle	heart
33	chr11:47446800-47447400	Flanking Active TSS	Stomach Mucosa	stomach
34	chr11:47446800-47447400	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr11:47446800-47447400	Flanking Active TSS	Thymus	Thymus
36	chr11:47446800-47447400	Flanking Active TSS	Osteobl	bone
37	chr11:47446800-47447600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr11:47446800-47447600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr11:47446800-47447600	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr11:47446800-47447600	Flanking Active TSS	Liver	Liver
41	chr11:47446800-47447600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr11:47446800-47448400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:47446800-47448400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:47446800-47448400	Active TSS	Small Intestine	intestine
45	chr11:47446800-47448600	Active TSS	H9 Cell Line	embryonic stem cell
46	chr11:47446800-47448600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:47447000-47447400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:47447000-47447400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr11:47447000-47447400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr11:47447000-47447400	Flanking Active TSS	Colon Smooth Muscle	Colon

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