Variant report

Variant	rs73980849
Chromosome Location	chr17:18103808-18103809
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	chr17:18087388..18090875-chr17:18103511..18106213,4	K562	blood:

Variant related genes	Relation type
ENSG00000091542	Chromatin interaction
ENSG00000266677	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]
rs73980819	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	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
10	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18090800-18104000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:18091200-18104600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:18091400-18114000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:18091800-18114400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:18092000-18104000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:18094200-18114600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr17:18094400-18114600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr17:18094600-18114600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:18095000-18108600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr17:18095000-18114600	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:18095000-18114800	Strong transcription	Fetal Thymus	thymus
12	chr17:18095400-18116000	Strong transcription	Fetal Stomach	stomach
13	chr17:18095600-18114600	Strong transcription	Dnd41	blood
14	chr17:18095800-18108600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr17:18096200-18114400	Strong transcription	Primary T cells from cord blood	blood
16	chr17:18096200-18114600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:18096400-18104800	Strong transcription	Hela-S3	cervix
18	chr17:18096800-18104400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:18096800-18114600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr17:18097000-18105000	Strong transcription	A549	lung
21	chr17:18097000-18108600	Strong transcription	Brain Germinal Matrix	brain
22	chr17:18097000-18114600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr17:18097200-18114600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr17:18097600-18114600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr17:18097800-18104400	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr17:18097800-18104800	Strong transcription	Primary hematopoietic stem cells	blood
27	chr17:18097800-18114600	Strong transcription	Fetal Brain Female	brain
28	chr17:18098000-18104000	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr17:18098000-18104600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr17:18098000-18105000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr17:18098000-18114600	Strong transcription	Primary B cells from cord blood	blood
32	chr17:18098000-18114600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:18098000-18114600	Strong transcription	Fetal Muscle Leg	muscle
34	chr17:18098200-18104000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr17:18098200-18104000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr17:18098200-18105800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:18098200-18107400	Strong transcription	Fetal Lung	lung
38	chr17:18099400-18104200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr17:18100600-18104200	Genic enhancers	Stomach Smooth Muscle	stomach
40	chr17:18100600-18104600	Genic enhancers	Primary T cells fromperipheralblood	blood
41	chr17:18100800-18104800	Genic enhancers	Brain Inferior Temporal Lobe	brain
42	chr17:18100800-18104800	Genic enhancers	Right Ventricle	heart
43	chr17:18101000-18104600	Genic enhancers	Brain Cingulate Gyrus	brain
44	chr17:18101000-18108600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr17:18101200-18104000	Weak transcription	NHDF-Ad	bronchial
46	chr17:18101200-18104400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr17:18101200-18104400	Strong transcription	GM12878-XiMat	blood
48	chr17:18101200-18108400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:18101200-18114400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr17:18101600-18114600	Strong transcription	Thymus	Thymus

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