Variant report

Variant	rs73980819
Chromosome Location	chr17:18094015-18094016
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:18042118..18044464-chr17:18092333..18094931,2	MCF-7	breast:
2	chr17:18092817..18094681-chr17:18097736..18100155,2	MCF-7	breast:
3	chr17:18093548..18096318-chr17:18098737..18101675,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091536	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1128069	1.00[AMR][1000 genomes]
rs11540888	1.00[ASN][1000 genomes]
rs11870681	1.00[ASN][1000 genomes]
rs16961058	1.00[ASN][1000 genomes]
rs16961112	1.00[ASN][1000 genomes]
rs2125154	1.00[ASN][1000 genomes]
rs28671051	1.00[ASN][1000 genomes]
rs34607655	1.00[AMR][1000 genomes]
rs4924848	1.00[ASN][1000 genomes]
rs4925170	1.00[ASN][1000 genomes]
rs4925173	1.00[ASN][1000 genomes]
rs4925175	1.00[ASN][1000 genomes]
rs4925180	1.00[ASN][1000 genomes]
rs55973639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61753153	1.00[ASN][1000 genomes]
rs6502648	1.00[ASN][1000 genomes]
rs7215491	1.00[ASN][1000 genomes]
rs7222589	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73291866	1.00[AMR][1000 genomes]
rs73980813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980856	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980857	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8074858	1.00[ASN][1000 genomes]
rs8080285	1.00[ASN][1000 genomes]
rs8082574	1.00[ASN][1000 genomes]
rs9893254	1.00[ASN][1000 genomes]
rs9894005	1.00[ASN][1000 genomes]
rs9894616	1.00[ASN][1000 genomes]
rs9902011	1.00[ASN][1000 genomes]
rs9902498	1.00[ASN][1000 genomes]
rs9903762	1.00[ASN][1000 genomes]
rs9913916	1.00[ASN][1000 genomes]
rs9915858	1.00[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	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	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv907771	chr17:18013560-18098018	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv907772	chr17:18030524-18098018	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18089000-18095400	Enhancers	Small Intestine	intestine
2	chr17:18089600-18095000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:18090200-18094200	Genic enhancers	Spleen	Spleen
4	chr17:18090200-18095000	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr17:18090200-18103400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr17:18090800-18095000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:18090800-18098200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:18090800-18098400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr17:18090800-18104000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr17:18091000-18094800	Genic enhancers	Fetal Intestine Large	intestine
11	chr17:18091000-18095000	Genic enhancers	Fetal Thymus	thymus
12	chr17:18091000-18095200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:18091000-18095600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr17:18091000-18095600	Genic enhancers	Fetal Muscle Leg	muscle
15	chr17:18091000-18095800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr17:18091000-18096000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr17:18091000-18096000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr17:18091200-18094400	Enhancers	Fetal Heart	heart
19	chr17:18091200-18094600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:18091200-18095400	Genic enhancers	Fetal Stomach	stomach
21	chr17:18091200-18095600	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr17:18091200-18095800	Genic enhancers	Fetal Intestine Small	intestine
23	chr17:18091200-18097000	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr17:18091200-18104600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:18091400-18094200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr17:18091400-18094400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:18091400-18095600	Enhancers	Psoas Muscle	Psoas
28	chr17:18091400-18097000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr17:18091400-18098800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:18091400-18114000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:18091600-18095000	Enhancers	Ovary	ovary
32	chr17:18091600-18095600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:18091600-18097800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr17:18091800-18094600	Enhancers	Colon Smooth Muscle	Colon
35	chr17:18091800-18095000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
36	chr17:18091800-18095000	Enhancers	Gastric	stomach
37	chr17:18091800-18095600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr17:18091800-18095600	Enhancers	Right Atrium	heart
39	chr17:18091800-18098000	Weak transcription	Primary B cells from cord blood	blood
40	chr17:18091800-18098200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr17:18091800-18114400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr17:18092000-18094200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
43	chr17:18092000-18094200	Weak transcription	NH-A	brain
44	chr17:18092000-18094400	Genic enhancers	Brain Anterior Caudate	brain
45	chr17:18092000-18095000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr17:18092000-18095000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr17:18092000-18095000	Enhancers	Brain Cingulate Gyrus	brain
48	chr17:18092000-18095200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:18092000-18095600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr17:18092000-18095600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--

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