Variant report

Variant	rs1124751
Chromosome Location	chr14:65567601-65567602
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65556086..65557952-chr14:65566751..65569779,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259118	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10143198	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10151162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158572	0.85[EUR][1000 genomes]
rs11158573	0.84[EUR][1000 genomes]
rs11158574	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs1124752	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625045	0.84[CEU][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs12147959	0.83[EUR][1000 genomes]
rs1256417	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1270074	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1271582	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12880781	0.84[CEU][hapmap];0.80[TSI][hapmap];0.85[EUR][1000 genomes]
rs12888794	0.85[EUR][1000 genomes]
rs1953228	0.84[EUR][1000 genomes]
rs1953232	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1957948	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1957949	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1998688	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap];0.89[LWK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2093989	0.92[EUR][1000 genomes]
rs2151755	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2763888	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2781373	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2781374	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2781375	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34459643	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35410051	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs35520739	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35769504	0.84[EUR][1000 genomes]
rs45604339	0.81[EUR][1000 genomes]
rs4899161	0.92[CEU][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs4902357	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4902358	0.84[CEU][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs4902359	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.92[TSI][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4902360	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902361	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902362	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55658675	0.83[EUR][1000 genomes]
rs7143495	0.84[CEU][hapmap]
rs7145112	0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7146939	0.88[ASN][1000 genomes]
rs7150646	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7152277	0.88[AFR][1000 genomes]
rs7154852	0.84[EUR][1000 genomes]
rs7156617	0.92[CEU][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes]
rs7158239	0.93[ASW][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs7159443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7161394	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs8005829	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8008095	0.82[AFR][1000 genomes]
rs8009396	0.85[EUR][1000 genomes]
rs8009714	0.85[EUR][1000 genomes]
rs8010213	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8015921	0.93[ASW][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs8181937	0.81[EUR][1000 genomes]
rs8181938	0.81[EUR][1000 genomes]
rs8181939	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs884683	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs942626	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs942627	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs942628	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs942629	0.86[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs998247	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1124751	MAX	cis	parietal	SCAN
rs1124751	WDR89	cis	cerebellum	SCAN
rs1124751	MAX	cis	cerebellum	SCAN
rs1124751	GPX2	cis	cerebellum	SCAN
rs1124751	RAB15	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65556400-65569000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:65556800-65567800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:65557600-65568000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:65560600-65567800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:65560600-65568000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:65560800-65568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:65561000-65567800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:65561600-65567800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:65561600-65568400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:65562800-65567800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:65562800-65568400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:65563400-65568000	Weak transcription	Aorta	Aorta
13	chr14:65563400-65568000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:65563600-65567800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:65563600-65567800	Weak transcription	Fetal Brain Male	brain
16	chr14:65563800-65567800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:65563800-65567800	Weak transcription	Esophagus	oesophagus
18	chr14:65563800-65568000	Weak transcription	Lung	lung
19	chr14:65563800-65568400	Weak transcription	Pancreas	Pancrea
20	chr14:65563800-65568600	Weak transcription	Spleen	Spleen
21	chr14:65564000-65567800	Weak transcription	Brain Angular Gyrus	brain
22	chr14:65564000-65567800	Weak transcription	Fetal Stomach	stomach
23	chr14:65564200-65568400	Weak transcription	Gastric	stomach
24	chr14:65564800-65568200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:65565000-65568200	Weak transcription	Ovary	ovary
26	chr14:65565200-65567800	Weak transcription	Placenta	Placenta
27	chr14:65565200-65567800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:65565400-65567800	Weak transcription	Colonic Mucosa	Colon
29	chr14:65565400-65567800	Enhancers	Rectal Smooth Muscle	rectum
30	chr14:65565600-65567800	Weak transcription	Brain Substantia Nigra	brain
31	chr14:65565600-65567800	Weak transcription	Right Atrium	heart
32	chr14:65566200-65568000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:65566600-65567800	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr14:65566600-65567800	Enhancers	Adipose Nuclei	Adipose
35	chr14:65566800-65568200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:65567000-65567800	Enhancers	Small Intestine	intestine
37	chr14:65567200-65567800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:65567200-65567800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr14:65567200-65567800	Enhancers	Fetal Brain Female	brain
40	chr14:65567200-65567800	Enhancers	Fetal Heart	heart
41	chr14:65567200-65567800	Genic enhancers	Fetal Muscle Leg	muscle
42	chr14:65567200-65567800	Weak transcription	Left Ventricle	heart
43	chr14:65567200-65568000	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr14:65567200-65568000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr14:65567200-65568000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr14:65567200-65568000	Transcr. at gene 5' and 3'	Dnd41	blood
47	chr14:65567200-65568000	Flanking Active TSS	GM12878-XiMat	blood
48	chr14:65567200-65568200	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr14:65567200-65568200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr14:65567200-65568200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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