Variant report

Variant	rs474510
Chromosome Location	chr17:38578078-38578079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38575637..38578772-chr17:38581843..38584982,3	MCF-7	breast:
2	chr17:38572047..38583621-chr17:38597341..38605150,24	MCF-7	breast:
3	chr17:38511733..38514240-chr17:38577131..38579483,2	K562	blood:
4	chr17:38476692..38479375-chr17:38577772..38579614,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131759	Chromatin interaction
ENSG00000141753	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1530363	0.94[EUR][1000 genomes]
rs16965783	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2586112	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2715557	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs471692	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs473198	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs477220	0.83[EUR][1000 genomes]
rs495511	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs505633	0.83[AMR][1000 genomes]
rs507564	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs510336	0.83[EUR][1000 genomes]
rs517047	0.80[EUR][1000 genomes]
rs525217	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs525812	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs528045	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs532299	0.83[AMR][1000 genomes]
rs552857	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs557498	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs558068	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62066565	0.83[AMR][1000 genomes];0.93[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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38574800-38578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:38574800-38579400	Weak transcription	K562	blood
3	chr17:38574800-38579600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:38574800-38580800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:38575000-38579000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr17:38575000-38579400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:38575000-38579400	Weak transcription	Hela-S3	cervix
8	chr17:38575000-38582000	Weak transcription	Psoas Muscle	Psoas
9	chr17:38575400-38579400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr17:38575400-38582000	Weak transcription	Placenta	Placenta
11	chr17:38575400-38588600	Weak transcription	Fetal Stomach	stomach
12	chr17:38576000-38579000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr17:38576000-38580200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:38576000-38580600	Weak transcription	GM12878-XiMat	blood
15	chr17:38576000-38582200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr17:38576400-38578400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr17:38576400-38581000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:38576400-38581000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr17:38576400-38581200	Weak transcription	Primary T cells from cord blood	blood
20	chr17:38576400-38581200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr17:38576400-38581800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr17:38576400-38581800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr17:38576400-38581800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr17:38576400-38581800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr17:38576400-38581800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr17:38576600-38579000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr17:38576600-38579200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr17:38576600-38579200	Weak transcription	Fetal Muscle Leg	muscle
29	chr17:38576600-38579400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr17:38576600-38579400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:38576600-38579400	Weak transcription	Spleen	Spleen
32	chr17:38576600-38579400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr17:38576600-38579600	Enhancers	HepG2	liver
34	chr17:38576600-38580000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:38576600-38580800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr17:38576600-38580800	Weak transcription	Fetal Thymus	thymus
37	chr17:38576600-38581200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr17:38576600-38581800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr17:38576600-38581800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:38576600-38581800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:38576600-38583400	Weak transcription	Lung	lung
42	chr17:38576800-38578800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr17:38576800-38579200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:38576800-38579200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr17:38576800-38582000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr17:38576800-38582000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr17:38577200-38579000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr17:38577800-38578400	Enhancers	A549	lung
49	chr17:38577800-38579000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr17:38577800-38579000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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