Variant report

Variant	rs4925111
Chromosome Location	chr17:17681537-17681538
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	MAZ	chr17:17681412-17682532	IMR90	lung:	n/a	n/a
2	ZNF263	chr17:17681286-17681691	HEK293-T-REx	kidney:	n/a	n/a
3	POLR2A	chr17:17681302-17681649	MCF-7	breast:	n/a	n/a
4	EP300	chr17:17681326-17683253	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17680425..17682951-chr17:17684524..17687112,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMCR5-1	chr17:17680000-17682843	ENSG00000226746.2

Variant related genes	Relation type
RAI1	TF binding region
ENSG00000108557	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs16961971	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16961993	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16962003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28528721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28595155	1.00[EUR][1000 genomes]
rs28615278	1.00[EUR][1000 genomes]
rs4924814	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924815	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4924816	1.00[EUR][1000 genomes]
rs4924818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4925107	1.00[EUR][1000 genomes]
rs4925113	1.00[EUR][1000 genomes]
rs59019513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59064231	1.00[EUR][1000 genomes]
rs59531660	1.00[EUR][1000 genomes]
rs60492230	1.00[EUR][1000 genomes]
rs73295666	1.00[EUR][1000 genomes]
rs73979203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979206	1.00[EUR][1000 genomes]
rs73979207	1.00[EUR][1000 genomes]
rs73979241	1.00[EUR][1000 genomes]
rs73979242	1.00[EUR][1000 genomes]
rs73979247	1.00[EUR][1000 genomes]
rs73981070	1.00[EUR][1000 genomes]
rs73981075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73981078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7405940	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8081943	1.00[EUR][1000 genomes]
rs9889565	1.00[EUR][1000 genomes]
rs9897573	1.00[EUR][1000 genomes]
rs9898044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9899537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900884	1.00[EUR][1000 genomes]
rs9900947	1.00[EUR][1000 genomes]
rs9908994	1.00[EUR][1000 genomes]
rs9910488	1.00[EUR][1000 genomes]
rs9944449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription 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 miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS 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	91 gene(s)	inside rSNPs	diseases
4	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
8	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS 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 miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	80 gene(s)	inside rSNPs	diseases
10	nsv833385	chr17:17594037-17765578	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer 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 miRNA target site	75 gene(s)	inside rSNPs	diseases
11	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
12	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription 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	77 gene(s)	inside rSNPs	diseases
13	nsv543241	chr17:17596222-17703059	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv1062361	chr17:17598407-17746899	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
17	nsv543243	chr17:17598407-17746899	Genic enhancers Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
18	nsv907756	chr17:17619859-17747289	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
19	nsv522668	chr17:17619859-17752809	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
20	nsv907757	chr17:17619859-17752809	Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
21	nsv907758	chr17:17619859-17782404	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS 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	72 gene(s)	inside rSNPs	diseases
22	nsv907759	chr17:17619859-17802478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
23	nsv532109	chr17:17630064-17700497	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1059949	chr17:17632590-17803194	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
25	nsv543244	chr17:17632590-17803194	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
26	nsv907760	chr17:17649423-17782404	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
27	nsv907761	chr17:17649423-17802478	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
28	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
29	nsv907762	chr17:17668071-17802478	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS 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 miRNA target site	72 gene(s)	inside rSNPs	diseases
30	esv1804029	chr17:17669662-17714250	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
31	nsv907763	chr17:17673824-17749822	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
32	nsv907764	chr17:17673824-17754633	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17656600-17682200	Weak transcription	Small Intestine	intestine
2	chr17:17662000-17683800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:17666400-17681800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr17:17669800-17682600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr17:17670200-17683000	Weak transcription	Thymus	Thymus
6	chr17:17670400-17681600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr17:17670800-17682000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr17:17671000-17683600	Weak transcription	Liver	Liver
9	chr17:17671400-17684400	Weak transcription	Primary B cells from cord blood	blood
10	chr17:17674600-17681800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:17674800-17681800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:17674800-17683600	Weak transcription	Fetal Brain Male	brain
13	chr17:17675000-17683800	Weak transcription	Fetal Brain Female	brain
14	chr17:17675200-17681800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:17675800-17681800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr17:17675800-17683800	Weak transcription	GM12878-XiMat	blood
17	chr17:17675800-17684200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:17676200-17683600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:17676400-17681600	Weak transcription	NHDF-Ad	bronchial
20	chr17:17678000-17682400	Weak transcription	Lung	lung
21	chr17:17678000-17682600	Weak transcription	Brain Germinal Matrix	brain
22	chr17:17678000-17684400	Weak transcription	Esophagus	oesophagus
23	chr17:17678000-17685200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr17:17678200-17681600	Weak transcription	HSMMtube	muscle
25	chr17:17678200-17681800	Weak transcription	HSMM	muscle
26	chr17:17678200-17684000	Weak transcription	NH-A	brain
27	chr17:17678200-17687600	Weak transcription	Hela-S3	cervix
28	chr17:17678400-17682400	Weak transcription	Psoas Muscle	Psoas
29	chr17:17678400-17683600	Weak transcription	Stomach Mucosa	stomach
30	chr17:17678400-17683800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr17:17678400-17683800	Weak transcription	NHEK	skin
32	chr17:17678600-17683600	Weak transcription	HMEC	breast
33	chr17:17679200-17682200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr17:17679600-17682000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:17679600-17683000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:17679600-17684800	Enhancers	Fetal Muscle Leg	muscle
37	chr17:17679800-17681600	Enhancers	Stomach Smooth Muscle	stomach
38	chr17:17679800-17684200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr17:17680200-17681800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:17680200-17682800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr17:17680200-17683800	Enhancers	Colon Smooth Muscle	Colon
42	chr17:17680400-17681600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:17680400-17681600	Strong transcription	A549	lung
44	chr17:17680400-17681600	Strong transcription	Dnd41	blood
45	chr17:17680400-17682000	Genic enhancers	Fetal Stomach	stomach
46	chr17:17680400-17683200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr17:17680400-17683200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr17:17680400-17684400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr17:17680600-17681600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:17680600-17681800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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