Variant report

Variant	rs7225251
Chromosome Location	chr17:59850814-59850815
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:59850239..59851867-chr17:59853660..59855165,2	K562	blood:

Variant related genes	Relation type
ENSG00000136492	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11079449	1.00[AMR][1000 genomes]
rs11079450	1.00[AMR][1000 genomes]
rs16945451	1.00[AMR][1000 genomes]
rs16945455	1.00[AMR][1000 genomes]
rs16945466	1.00[AMR][1000 genomes]
rs16945472	1.00[AMR][1000 genomes]
rs16945489	1.00[AMR][1000 genomes]
rs16945495	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs16945522	1.00[AMR][1000 genomes]
rs2378882	1.00[AMR][1000 genomes]
rs28409395	1.00[AMR][1000 genomes]
rs28637035	1.00[AMR][1000 genomes]
rs28839618	1.00[AMR][1000 genomes]
rs60066089	1.00[AMR][1000 genomes]
rs61739271	1.00[AMR][1000 genomes]
rs7207425	1.00[AMR][1000 genomes]
rs7212941	1.00[AMR][1000 genomes]
rs7213607	1.00[AMR][1000 genomes]
rs7213652	1.00[AMR][1000 genomes]
rs7219055	1.00[AMR][1000 genomes]
rs7223319	1.00[AMR][1000 genomes]
rs8067024	1.00[AMR][1000 genomes]
rs8077553	0.92[YRI][hapmap]
rs9303447	1.00[AMR][1000 genomes]
rs9892156	1.00[AMR][1000 genomes]
rs9892747	1.00[AMR][1000 genomes]
rs9893569	1.00[AMR][1000 genomes]
rs9894800	1.00[AMR][1000 genomes]
rs9896244	1.00[AMR][1000 genomes]
rs9897645	1.00[AMR][1000 genomes]
rs9897967	1.00[AMR][1000 genomes]
rs9897971	1.00[AMR][1000 genomes]
rs9898853	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9899420	1.00[AMR][1000 genomes]
rs9901535	1.00[AMR][1000 genomes]
rs9901665	1.00[AMR][1000 genomes]
rs9902352	1.00[AMR][1000 genomes]
rs9902447	1.00[AMR][1000 genomes]
rs9903376	1.00[AMR][1000 genomes]
rs9905071	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs9909664	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9910311	1.00[AMR][1000 genomes]
rs9910461	1.00[AMR][1000 genomes]
rs9910726	1.00[AMR][1000 genomes]
rs9911403	1.00[AMR][1000 genomes]
rs9912137	1.00[AMR][1000 genomes]
rs9912417	1.00[AMR][1000 genomes]
rs9916169	0.86[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv908673	chr17:59767501-59926645	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
3	nsv908674	chr17:59800827-59899790	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
4	nsv575841	chr17:59812748-59914681	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv575842	chr17:59812748-59927307	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
6	nsv908675	chr17:59835864-59937286	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59816800-59887800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:59820400-59877200	Weak transcription	NH-A	brain
3	chr17:59825800-59898400	Weak transcription	Thymus	Thymus
4	chr17:59841600-59856600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:59844000-59851600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr17:59844000-59882600	Weak transcription	NHLF	lung
7	chr17:59844600-59882600	Weak transcription	HMEC	breast
8	chr17:59845000-59853200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:59847600-59883400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr17:59847800-59876200	Weak transcription	Osteobl	bone
11	chr17:59848400-59873600	Weak transcription	K562	blood
12	chr17:59848600-59874000	Weak transcription	Hela-S3	cervix
13	chr17:59848600-59875600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr17:59848800-59872600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr17:59848800-59882600	Weak transcription	NHEK	skin
16	chr17:59848800-59911200	Weak transcription	HUVEC	blood vessel
17	chr17:59849000-59869400	Weak transcription	HepG2	liver
18	chr17:59849400-59871600	Weak transcription	HSMM	muscle
19	chr17:59849400-59872200	Weak transcription	Fetal Thymus	thymus
20	chr17:59849400-59887200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr17:59849800-59852200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr17:59849800-59858600	Strong transcription	Dnd41	blood
23	chr17:59849800-59887200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr17:59850000-59851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:59850000-59851800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr17:59850000-59852000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr17:59850000-59852000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr17:59850000-59852000	Weak transcription	Fetal Lung	lung
29	chr17:59850000-59852800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:59850000-59853400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:59850000-59856600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:59850000-59857400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:59850000-59857400	Weak transcription	A549	lung
34	chr17:59850000-59857600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:59850000-59860400	Weak transcription	GM12878-XiMat	blood
36	chr17:59850000-59865000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr17:59850000-59866000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr17:59850000-59869400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr17:59850000-59870800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr17:59850000-59871000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr17:59850000-59872200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:59850000-59873200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr17:59850000-59887000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr17:59850000-59887000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr17:59850200-59852400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr17:59850800-59852000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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