Variant report

Variant	rs55973639
Chromosome Location	chr17:18082812-18082813
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:18059972..18062681-chr17:18081450..18083515,2	K562	blood:
2	chr17:18081720..18083275-chr17:18090040..18091651,2	MCF-7	breast:
3	chr17:18081827..18084757-chr17:18084813..18086501,3	MCF-7	breast:
4	chr17:18080952..18083841-chr17:18091847..18093400,2	MCF-7	breast:
5	chr17:18079758..18083716-chr17:18084697..18088555,8	K562	blood:
6	chr17:18080216..18082835-chr17:18097056..18098956,2	MCF-7	breast:
7	chr17:18063606..18070028-chr17:18081885..18087934,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091542	Chromatin interaction
ENSG00000266677	Chromatin interaction
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]
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]
rs73980819	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18062000-18085600	Weak transcription	Brain Angular Gyrus	brain
2	chr17:18062200-18085000	Weak transcription	Right Atrium	heart
3	chr17:18064800-18085400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr17:18071200-18084800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:18072400-18085400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:18072800-18085000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr17:18075600-18085400	Weak transcription	Brain Germinal Matrix	brain
8	chr17:18075800-18084400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr17:18075800-18085200	Weak transcription	Right Ventricle	heart
10	chr17:18076000-18085400	Weak transcription	Esophagus	oesophagus
11	chr17:18076000-18086000	Weak transcription	Ovary	ovary
12	chr17:18076200-18084600	Weak transcription	Fetal Stomach	stomach
13	chr17:18076600-18085000	Weak transcription	Pancreas	Pancrea
14	chr17:18076800-18083200	Weak transcription	K562	blood
15	chr17:18076800-18084400	Weak transcription	Fetal Muscle Leg	muscle
16	chr17:18077400-18085400	Weak transcription	Spleen	Spleen
17	chr17:18077800-18085200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr17:18079200-18083400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:18079200-18084400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr17:18079200-18085400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:18079400-18085000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr17:18079800-18084400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:18079800-18084400	Weak transcription	GM12878-XiMat	blood
24	chr17:18079800-18085200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:18080000-18085400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr17:18080200-18083400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr17:18080200-18085400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr17:18080200-18085400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr17:18080200-18085400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr17:18080400-18084600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr17:18080400-18085400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr17:18081200-18084800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:18081400-18085400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr17:18081400-18085400	Weak transcription	Brain Substantia Nigra	brain
35	chr17:18082200-18083000	Enhancers	HepG2	liver
36	chr17:18082200-18083200	Enhancers	Fetal Intestine Large	intestine
37	chr17:18082200-18083400	Enhancers	Stomach Mucosa	stomach
38	chr17:18082200-18084400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:18082400-18083200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr17:18082400-18083400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr17:18082400-18083600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:18082600-18083000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:18082600-18083000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr17:18082600-18083200	Enhancers	HSMMtube	muscle
45	chr17:18082600-18084800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr17:18082600-18085400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:18082600-18085400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr17:18082800-18084800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr17:18082800-18085000	Weak transcription	Gastric	stomach
50	chr17:18082800-18085200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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