Variant report

Variant	rs28694704
Chromosome Location	chr17:18098253-18098254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:18080216..18082835-chr17:18097056..18098956,2	MCF-7	breast:
2	chr17:18092817..18094681-chr17:18097736..18100155,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17855350	1.00[EUR][1000 genomes]
rs56109231	1.00[EUR][1000 genomes]
rs56180580	1.00[EUR][1000 genomes]
rs56735648	1.00[EUR][1000 genomes]
rs56793258	1.00[EUR][1000 genomes]
rs58115308	1.00[EUR][1000 genomes]
rs58499955	1.00[EUR][1000 genomes]
rs59738176	1.00[EUR][1000 genomes]
rs59867698	1.00[EUR][1000 genomes]
rs60320587	1.00[EUR][1000 genomes]
rs60510653	1.00[EUR][1000 genomes]
rs60699593	1.00[EUR][1000 genomes]
rs60708953	1.00[EUR][1000 genomes]
rs60814048	1.00[EUR][1000 genomes]
rs61361031	1.00[EUR][1000 genomes]
rs61576260	1.00[EUR][1000 genomes]
rs7207131	1.00[EUR][1000 genomes]
rs7207489	1.00[EUR][1000 genomes]
rs7213472	1.00[EUR][1000 genomes]
rs7213789	1.00[EUR][1000 genomes]
rs7219191	1.00[EUR][1000 genomes]
rs7226015	1.00[EUR][1000 genomes]
rs73288279	1.00[EUR][1000 genomes]
rs73288297	1.00[EUR][1000 genomes]
rs73288302	1.00[EUR][1000 genomes]
rs73289913	1.00[EUR][1000 genomes]
rs73980805	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8064901	1.00[EUR][1000 genomes]
rs8068530	1.00[EUR][1000 genomes]
rs8069012	1.00[EUR][1000 genomes]
rs8071028	1.00[EUR][1000 genomes]
rs8071911	1.00[EUR][1000 genomes]
rs8080816	1.00[EUR][1000 genomes]
rs9910599	1.00[EUR][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	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	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription 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 target site	38 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv510702	chr17:18037676-18116801	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1062828	chr17:18098110-18136330	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	nsv543245	chr17:18098110-18136330	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS 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	10 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	chr17:18090200-18103400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:18090800-18098400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr17:18090800-18104000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:18091200-18104600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:18091400-18098800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:18091400-18114000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:18091800-18114400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:18092000-18104000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:18093000-18098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:18094200-18114600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:18094400-18114600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr17:18094600-18114600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:18094800-18098600	Weak transcription	HSMMtube	muscle
14	chr17:18094800-18098600	Weak transcription	NH-A	brain
15	chr17:18094800-18101800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr17:18094800-18103400	Strong transcription	Fetal Intestine Large	intestine
17	chr17:18095000-18108600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr17:18095000-18114600	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr17:18095000-18114800	Strong transcription	Fetal Thymus	thymus
20	chr17:18095200-18101000	Strong transcription	Thymus	Thymus
21	chr17:18095400-18101800	Weak transcription	Small Intestine	intestine
22	chr17:18095400-18116000	Strong transcription	Fetal Stomach	stomach
23	chr17:18095600-18098800	Weak transcription	Psoas Muscle	Psoas
24	chr17:18095600-18099600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:18095600-18100600	Strong transcription	GM12878-XiMat	blood
26	chr17:18095600-18103600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr17:18095600-18114600	Strong transcription	Dnd41	blood
28	chr17:18095800-18098400	Weak transcription	Stomach Mucosa	stomach
29	chr17:18095800-18100400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr17:18095800-18102200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr17:18095800-18103200	Strong transcription	Fetal Intestine Small	intestine
32	chr17:18095800-18108600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:18096200-18101600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr17:18096200-18114400	Strong transcription	Primary T cells from cord blood	blood
35	chr17:18096200-18114600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:18096400-18099000	Enhancers	Right Atrium	heart
37	chr17:18096400-18100400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr17:18096400-18104800	Strong transcription	Hela-S3	cervix
39	chr17:18096800-18104400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:18096800-18114600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr17:18097000-18098400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr17:18097000-18099000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr17:18097000-18102000	Strong transcription	HepG2	liver
44	chr17:18097000-18102000	Strong transcription	K562	blood
45	chr17:18097000-18102600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr17:18097000-18105000	Strong transcription	A549	lung
47	chr17:18097000-18108600	Strong transcription	Brain Germinal Matrix	brain
48	chr17:18097000-18114600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr17:18097200-18098800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:18097200-18099200	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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