Variant report

Variant	rs17707007
Chromosome Location	chr15:52531813-52531814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52529115..52532047-chr15:52992666..52994402,2	K562	blood:
2	chr15:52531482..52533056-chr15:52536199..52538626,2	MCF-7	breast:
3	chr15:52530481..52532321-chr15:52539248..52541574,2	MCF-7	breast:
4	chr15:52529228..52532090-chr15:52537433..52540764,3	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10163109	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs17650694	1.00[MEX][hapmap]
rs3751610	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3751630	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs41504447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs4268699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[MEX][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4776027	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs55676113	0.86[EUR][1000 genomes]
rs55712142	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55870025	0.98[ASN][1000 genomes]
rs56066716	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62623565	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7168434	0.98[ASN][1000 genomes]
rs7175545	1.00[MEX][hapmap]
rs7175663	1.00[MEX][hapmap]

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	nsv1054372	chr15:52369078-52579464	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv542387	chr15:52369078-52579464	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv833005	chr15:52389869-52541330	Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv1851383	chr15:52501831-52534344	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv1846455	chr15:52501831-52714452	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1537	chr15:52502246-52537067	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52479800-52532800	Weak transcription	Brain Angular Gyrus	brain
2	chr15:52497400-52535600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr15:52497800-52549000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:52501600-52532600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:52505600-52549200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:52506400-52548800	Weak transcription	Fetal Kidney	kidney
7	chr15:52509400-52537200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:52512800-52534000	Weak transcription	Colonic Mucosa	Colon
9	chr15:52514000-52539400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr15:52516000-52549400	Weak transcription	Left Ventricle	heart
11	chr15:52520200-52533800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:52523400-52532400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:52523400-52532600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:52523400-52548600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:52524400-52579400	Weak transcription	Small Intestine	intestine
16	chr15:52525200-52532200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr15:52525600-52532600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr15:52525800-52554000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:52526000-52534000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:52526000-52534200	Weak transcription	Brain Substantia Nigra	brain
21	chr15:52526000-52548800	Weak transcription	Brain Hippocampus Middle	brain
22	chr15:52526200-52548200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:52526600-52532200	Strong transcription	Fetal Intestine Small	intestine
24	chr15:52527000-52532000	Strong transcription	Gastric	stomach
25	chr15:52527200-52532400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr15:52527200-52532400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr15:52527200-52534000	Weak transcription	Lung	lung
28	chr15:52527400-52534000	Weak transcription	Adipose Nuclei	Adipose
29	chr15:52527400-52535400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:52527400-52548200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:52527800-52535800	Weak transcription	Brain Anterior Caudate	brain
32	chr15:52528000-52533200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:52528000-52535000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:52528000-52548800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:52528000-52548800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr15:52528200-52532200	Strong transcription	Fetal Stomach	stomach
37	chr15:52528200-52532200	Strong transcription	A549	lung
38	chr15:52528200-52533200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr15:52528200-52537000	Weak transcription	Thymus	Thymus
40	chr15:52528600-52533200	Weak transcription	Primary T cells from cord blood	blood
41	chr15:52528600-52533200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr15:52528600-52533200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr15:52528600-52533200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr15:52528600-52533200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr15:52528600-52533600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr15:52528600-52533800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr15:52528600-52533800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:52528600-52533800	Weak transcription	Fetal Thymus	thymus
49	chr15:52528600-52534000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr15:52528600-52535400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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