Variant report

Variant	rs7218048
Chromosome Location	chr17:15374082-15374083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr17:15374027-15374241	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr17:15373757-15374208	K562	blood:	n/a	n/a
3	GATA3	chr17:15373948-15374186	T-47D	breast:	n/a	chr17:15374036-15374044
4	POLR2A	chr17:15373867-15374090	HepG2	liver:	n/a	n/a
5	POLR2A	chr17:15373527-15374267	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15367748..15369462-chr17:15373391..15375933,2	K562	blood:
2	chr17:15370733..15374395-chr17:15375320..15379081,3	K562	blood:

Variant related genes	Relation type
CDRT4	TF binding region
ENSG00000239704	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11078303	0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11078305	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11654512	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11867442	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11867475	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12601385	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12945384	0.83[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17775352	0.89[YRI][hapmap]
rs2323735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2875141	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2875142	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2906972	0.94[ASN][1000 genomes]
rs2954783	0.94[ASN][1000 genomes]
rs2954785	0.96[ASN][1000 genomes]
rs2954786	0.96[ASN][1000 genomes]
rs2954788	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2954789	0.94[ASN][1000 genomes]
rs4791623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4792612	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219022	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7219900	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15340600-15399600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:15341400-15375800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr17:15356800-15378000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr17:15357800-15375800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:15359200-15404600	Weak transcription	Primary T cells from cord blood	blood
6	chr17:15359400-15386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr17:15359600-15383000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:15361200-15387800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr17:15361400-15385400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr17:15361800-15382000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr17:15367400-15394200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr17:15367800-15375800	Weak transcription	Small Intestine	intestine
13	chr17:15368000-15382800	Weak transcription	Hela-S3	cervix
14	chr17:15368000-15393600	Weak transcription	Aorta	Aorta
15	chr17:15368200-15378800	Weak transcription	Psoas Muscle	Psoas
16	chr17:15368200-15379000	Weak transcription	A549	lung
17	chr17:15368200-15386800	Weak transcription	Ovary	ovary
18	chr17:15368400-15405400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr17:15368600-15379200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr17:15368600-15385600	Weak transcription	Fetal Brain Female	brain
21	chr17:15368800-15376200	Weak transcription	Fetal Lung	lung
22	chr17:15368800-15382400	Weak transcription	Spleen	Spleen
23	chr17:15368800-15394000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:15369000-15393600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr17:15369000-15401600	Weak transcription	Brain Germinal Matrix	brain
26	chr17:15369200-15405000	Weak transcription	Esophagus	oesophagus
27	chr17:15369400-15382200	Weak transcription	Lung	lung
28	chr17:15369600-15386800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:15370600-15375200	Enhancers	Fetal Intestine Large	intestine
30	chr17:15371000-15374400	Enhancers	Duodenum Mucosa	Duodenum
31	chr17:15371000-15375800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr17:15371200-15377000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:15371600-15379200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:15371800-15377400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr17:15371800-15378800	Weak transcription	Placenta	Placenta
36	chr17:15371800-15382000	Weak transcription	Right Atrium	heart
37	chr17:15371800-15382600	Weak transcription	Fetal Kidney	kidney
38	chr17:15372400-15377000	Weak transcription	Fetal Heart	heart
39	chr17:15372800-15382400	Weak transcription	Right Ventricle	heart
40	chr17:15373000-15375800	Weak transcription	Fetal Stomach	stomach
41	chr17:15373000-15378200	Enhancers	Fetal Intestine Small	intestine
42	chr17:15373200-15377200	Weak transcription	Adipose Nuclei	Adipose
43	chr17:15373200-15378800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr17:15373200-15378800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr17:15373200-15384600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr17:15373200-15393600	Weak transcription	Brain Hippocampus Middle	brain
47	chr17:15373200-15393600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr17:15373400-15378600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:15373400-15378800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr17:15373400-15378800	Weak transcription	HSMM	muscle

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