Variant report

Variant	rs4925155
Chromosome Location	chr17:18159615-18159616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr17:18159605-18160097	A549	lung:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18127100..18135567-chr17:18158023..18168767,25	MCF-7	breast:
2	chr17:18156705..18166530-chr17:18215131..18220177,19	MCF-7	breast:
3	chr17:18126073..18132705-chr17:18158327..18165323,14	MCF-7	breast:
4	chr17:18158849..18161472-chr17:18226331..18228845,2	MCF-7	breast:
5	chr17:18158589..18161919-chr17:18164225..18167330,4	K562	blood:
6	chr17:18159414..18161817-chr17:18169101..18171467,2	K562	blood:
7	chr17:18128609..18130304-chr17:18157638..18159883,2	K562	blood:
8	chr17:18159194..18166260-chr17:18215929..18222740,16	MCF-7	breast:

No data

Variant related genes	Relation type
FLII	TF binding region
MIEF2	TF binding region
ENSG00000228000	Chromatin interaction
ENSG00000177427	Chromatin interaction
ENSG00000131899	Chromatin interaction
ENSG00000176994	Chromatin interaction
ENSG00000260647	Chromatin interaction
ENSG00000237382	Chromatin interaction
ENSG00000267350	Chromatin interaction
ENSG00000177302	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1001303	1.00[CEU][hapmap];0.84[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs28684992	1.00[CEU][hapmap];0.84[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4924848	1.00[CEU][hapmap]
rs4924860	1.00[CEU][hapmap]
rs4925154	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs4925158	1.00[CEU][hapmap]
rs4925164	1.00[CEU][hapmap]
rs4925165	1.00[CEU][hapmap]
rs7215491	1.00[CEU][hapmap]
rs8070162	0.84[LWK][hapmap];1.00[YRI][hapmap]
rs8072977	1.00[CEU][hapmap];0.84[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs8075915	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs8078015	1.00[CEU][hapmap];0.84[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs9890722	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs9898323	1.00[YRI][hapmap]
rs9902011	1.00[CEU][hapmap]
rs9905503	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs9909530	0.91[YRI][hapmap]
rs9911412	1.00[CEU][hapmap];0.84[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv543246	chr17:18121007-18165604	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
10	nsv9503	chr17:18121474-18169166	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
11	nsv907776	chr17:18122485-18170948	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
12	nsv1066718	chr17:18125122-18180807	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv907777	chr17:18131087-18163262	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18135200-18160000	Strong transcription	Fetal Brain Female	brain
2	chr17:18135400-18160200	Strong transcription	Thymus	Thymus
3	chr17:18135600-18160000	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr17:18135800-18160400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:18136000-18159800	Strong transcription	Placenta Amnion	Placenta Amnion
6	chr17:18136000-18160000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:18136200-18160000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:18136200-18160000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr17:18139400-18159800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:18139800-18160000	Strong transcription	Osteobl	bone
11	chr17:18139800-18160200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:18140000-18160000	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr17:18143400-18160200	Strong transcription	NHLF	lung
14	chr17:18143600-18160000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:18143800-18160000	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr17:18143800-18160200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr17:18144000-18160000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:18144000-18160200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr17:18144200-18160000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr17:18144600-18159800	Strong transcription	Fetal Thymus	thymus
21	chr17:18144800-18159800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:18146600-18160000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:18147200-18159800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:18148000-18159800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr17:18148200-18159800	Strong transcription	HepG2	liver
26	chr17:18148200-18160200	Strong transcription	Aorta	Aorta
27	chr17:18150800-18160000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:18150800-18160000	Strong transcription	Fetal Intestine Large	intestine
29	chr17:18150800-18160000	Strong transcription	HSMM	muscle
30	chr17:18151000-18160000	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr17:18151200-18159800	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr17:18151200-18159800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr17:18151200-18160000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:18151200-18160000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr17:18151200-18160000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr17:18151200-18160000	Weak transcription	Fetal Brain Male	brain
37	chr17:18151200-18160200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr17:18151200-18160200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:18151200-18160400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:18151400-18159800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:18151400-18160000	Strong transcription	Placenta	Placenta
42	chr17:18151400-18160600	Weak transcription	K562	blood
43	chr17:18151800-18159800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr17:18152000-18159800	Weak transcription	Fetal Heart	heart
45	chr17:18152000-18160000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr17:18152200-18159800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr17:18152200-18160000	Strong transcription	Brain Anterior Caudate	brain
48	chr17:18152200-18160200	Strong transcription	Fetal Intestine Small	intestine
49	chr17:18152200-18160200	Strong transcription	A549	lung
50	chr17:18152400-18159800	Strong transcription	Brain Angular Gyrus	brain

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