Variant report

Variant	rs17472710
Chromosome Location	chr5:114867920-114867921
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114867179..114868890-chr5:114879622..114881662,2	MCF-7	breast:
2	chr5:114855076..114857230-chr5:114867072..114869441,2	K562	blood:
3	chr5:114865115..114868183-chr5:114868722..114871711,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11740361	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1427860	1.00[EUR][1000 genomes]
rs17137925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17137978	1.00[EUR][1000 genomes]
rs17393505	0.96[EUR][1000 genomes]
rs17393664	0.95[EUR][1000 genomes]
rs17395548	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17395582	1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17472256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17473484	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17473708	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17473792	1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17474216	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs2194114	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3776801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776802	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73780315	0.95[ASN][1000 genomes]
rs7712026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114854600-114870200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:114856800-114871000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:114857800-114877200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:114858600-114878800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:114858800-114876200	Weak transcription	Fetal Stomach	stomach
6	chr5:114860800-114874000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:114860800-114877200	Weak transcription	Colonic Mucosa	Colon
8	chr5:114861000-114878600	Weak transcription	Pancreas	Pancrea
9	chr5:114861000-114878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:114861000-114878800	Weak transcription	Spleen	Spleen
11	chr5:114861200-114871200	Weak transcription	Fetal Lung	lung
12	chr5:114861200-114871600	Weak transcription	HSMMtube	muscle
13	chr5:114861200-114872400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:114861200-114874200	Weak transcription	Aorta	Aorta
15	chr5:114861200-114875800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:114861200-114878600	Weak transcription	Esophagus	oesophagus
17	chr5:114861400-114868400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:114861400-114869400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:114861400-114871200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:114861400-114871200	Weak transcription	Fetal Kidney	kidney
21	chr5:114861400-114871800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:114861400-114874200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr5:114861400-114874600	Weak transcription	Thymus	Thymus
24	chr5:114861400-114875400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:114861400-114877200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:114861600-114868600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:114861600-114871600	Weak transcription	Placenta	Placenta
28	chr5:114861600-114874200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr5:114861800-114871200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:114862800-114870200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr5:114862800-114871000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:114862800-114871200	Weak transcription	Fetal Muscle Leg	muscle
33	chr5:114863000-114870000	Weak transcription	Fetal Thymus	thymus
34	chr5:114863000-114870200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr5:114863000-114871200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:114863200-114868400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:114863400-114869200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:114863400-114870400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:114863400-114874600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:114863600-114873000	Weak transcription	Ovary	ovary
41	chr5:114863600-114878600	Weak transcription	Gastric	stomach
42	chr5:114863800-114871400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:114864200-114874200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:114864400-114869800	Weak transcription	Primary B cells from cord blood	blood
45	chr5:114864600-114868600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:114864600-114868800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:114864800-114869000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:114864800-114869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:114864800-114874000	Weak transcription	Small Intestine	intestine
50	chr5:114865200-114868200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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