Variant report

Variant	rs3013
Chromosome Location	chr12:49087656-49087657
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49086946..49088628-chr12:49095577..49097404,2	K562	blood:
2	chr12:49085628..49087870-chr12:49088071..49090934,2	K562	blood:
3	chr12:49073825..49077116-chr12:49086759..49088540,3	MCF-7	breast:
4	chr12:49073851..49077506-chr12:49084529..49091835,9	MCF-7	breast:
5	chr12:49085858..49087944-chr12:49092342..49095303,3	K562	blood:
6	chr12:49085980..49088605-chr12:49109362..49112104,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129315	Chromatin interaction
ENSG00000139620	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10875851	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168620	1.00[ASN][1000 genomes]
rs11168659	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168660	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168661	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168664	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168667	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168680	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168690	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168691	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168692	0.91[CEU][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168693	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168694	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168695	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168699	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168700	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168701	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168708	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168715	1.00[ASN][1000 genomes]
rs11168717	1.00[ASN][1000 genomes]
rs11168718	1.00[ASN][1000 genomes]
rs11168719	1.00[ASN][1000 genomes]
rs11168722	1.00[ASN][1000 genomes]
rs11168727	1.00[ASN][1000 genomes]
rs11168781	1.00[ASN][1000 genomes]
rs11832160	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837643	1.00[ASN][1000 genomes]
rs12366919	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369279	1.00[ASN][1000 genomes]
rs17123362	1.00[ASN][1000 genomes]
rs17834622	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895994	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409084	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132370	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405363	1.00[ASN][1000 genomes]
rs55644947	1.00[ASN][1000 genomes]
rs56182935	1.00[ASN][1000 genomes]
rs61942011	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61942012	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942013	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942014	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942015	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942016	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942018	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942047	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942048	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942049	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942051	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942052	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61942053	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61942058	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942059	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943193	1.00[ASN][1000 genomes]
rs61943194	1.00[ASN][1000 genomes]
rs6580694	0.92[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138342	1.00[ASN][1000 genomes]
rs7294389	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295027	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295138	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296987	1.00[ASN][1000 genomes]
rs7303113	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105786	1.00[ASN][1000 genomes]
rs74088163	1.00[ASN][1000 genomes]
rs7486636	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964801	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966343	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967175	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967542	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973954	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975102	0.92[CEU][hapmap];1.00[ASN][1000 genomes]
rs7977935	1.00[ASN][1000 genomes]
rs7979508	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953673	1.00[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	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49076600-49096400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:49076600-49109000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:49080800-49097400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:49081000-49097200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:49081000-49101000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:49081200-49090800	Strong transcription	HSMM	muscle
7	chr12:49081200-49093600	Strong transcription	NH-A	brain
8	chr12:49081400-49090400	Strong transcription	Brain Anterior Caudate	brain
9	chr12:49081400-49104000	Strong transcription	Hela-S3	cervix
10	chr12:49081600-49090000	Strong transcription	Primary hematopoietic stem cells	blood
11	chr12:49081600-49090200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:49081600-49090600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:49081600-49092400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr12:49081600-49093600	Strong transcription	Osteobl	bone
15	chr12:49081600-49095000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:49081600-49097400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:49081600-49099800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:49081600-49103800	Strong transcription	Dnd41	blood
19	chr12:49081600-49107200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:49081600-49107600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:49081600-49108400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:49081800-49090600	Strong transcription	Primary B cells from cord blood	blood
23	chr12:49081800-49091000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr12:49081800-49094400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:49081800-49099400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:49082000-49090200	Strong transcription	Primary T cells from cord blood	blood
27	chr12:49082000-49094800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:49082000-49104000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:49082000-49107600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr12:49082200-49090000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:49082200-49090000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:49082200-49090000	Strong transcription	Brain Germinal Matrix	brain
33	chr12:49082200-49094800	Strong transcription	NHDF-Ad	bronchial
34	chr12:49082200-49100800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:49082200-49107200	Strong transcription	Liver	Liver
36	chr12:49082200-49107400	Strong transcription	Placenta	Placenta
37	chr12:49082200-49108000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:49082200-49108400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr12:49082200-49108600	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:49082200-49108600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:49082200-49108800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:49082400-49090600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:49082400-49093800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr12:49082400-49094800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:49082400-49094800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:49082400-49100200	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr12:49082600-49091200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr12:49082600-49091200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr12:49082600-49107600	Strong transcription	Fetal Thymus	thymus
50	chr12:49082800-49089800	Strong transcription	HMEC	breast

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