Variant report

Variant	rs2715557
Chromosome Location	chr17:38568249-38568250
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38567647..38569225-chr17:38572568..38575239,2	MCF-7	breast:
2	chr17:38535520..38539841-chr17:38568044..38570413,3	K562	blood:
3	chr17:38554880..38561530-chr17:38564891..38570099,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131747	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1530363	0.88[EUR][1000 genomes]
rs1662574	0.94[ASN][1000 genomes]
rs16965783	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2586112	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2715556	0.94[ASN][1000 genomes]
rs471692	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs473198	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs474510	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs477220	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs495511	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs505633	0.99[ASN][1000 genomes]
rs506728	0.94[ASN][1000 genomes]
rs507564	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs510336	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs517047	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs525217	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs525812	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs528045	0.88[EUR][1000 genomes]
rs532299	0.94[ASN][1000 genomes]
rs552857	0.93[EUR][1000 genomes]
rs557498	0.93[EUR][1000 genomes]
rs558068	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62066565	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38540200-38571400	Strong transcription	Fetal Thymus	thymus
2	chr17:38542200-38571600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr17:38542600-38571800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:38543200-38571000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:38543400-38571000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr17:38543400-38571400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:38543400-38571800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr17:38544000-38569800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:38544000-38570200	Strong transcription	HepG2	liver
10	chr17:38544000-38571800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:38544400-38573200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:38545200-38573200	Weak transcription	Gastric	stomach
13	chr17:38546000-38573600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:38546400-38572200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:38546400-38572800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr17:38546400-38573200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr17:38548200-38572000	Weak transcription	Brain Germinal Matrix	brain
18	chr17:38548400-38572800	Weak transcription	Primary B cells from cord blood	blood
19	chr17:38549800-38573000	Weak transcription	Fetal Intestine Large	intestine
20	chr17:38551000-38573000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr17:38552200-38573400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:38554200-38570400	Strong transcription	HMEC	breast
23	chr17:38554600-38569600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr17:38555600-38571000	Strong transcription	HUVEC	blood vessel
25	chr17:38556000-38568600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:38557400-38572800	Weak transcription	Fetal Kidney	kidney
27	chr17:38557600-38571800	Weak transcription	Fetal Brain Female	brain
28	chr17:38557800-38572800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr17:38559000-38571600	Weak transcription	NHLF	lung
30	chr17:38559200-38573000	Weak transcription	Primary T cells from cord blood	blood
31	chr17:38559200-38573200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr17:38559400-38570400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:38559400-38571400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:38559400-38573200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr17:38559800-38572800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr17:38560400-38570200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr17:38562200-38569400	Strong transcription	Hela-S3	cervix
38	chr17:38562200-38569600	Strong transcription	Osteobl	bone
39	chr17:38562400-38569200	Strong transcription	GM12878-XiMat	blood
40	chr17:38562400-38569600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr17:38562400-38570000	Weak transcription	Fetal Intestine Small	intestine
42	chr17:38562600-38571600	Strong transcription	K562	blood
43	chr17:38562800-38569200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr17:38562800-38571600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr17:38563200-38572600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr17:38564600-38569600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr17:38565800-38569200	Strong transcription	Placenta	Placenta
48	chr17:38565800-38573000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr17:38566200-38571600	Weak transcription	Thymus	Thymus
50	chr17:38566400-38568600	Strong transcription	NH-A	brain

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