Variant report

Variant	rs11183738
Chromosome Location	chr12:47509456-47509457
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	chr12:47505501..47507433-chr12:47508712..47510717,3	MCF-7	breast:
2	chr12:47507499..47510345-chr12:47516266..47518261,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10785664	1.00[YRI][hapmap]
rs10785665	1.00[YRI][hapmap]
rs10785668	1.00[YRI][hapmap]
rs10881045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10881047	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10881069	1.00[YRI][hapmap]
rs10881070	1.00[YRI][hapmap]
rs11183740	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11183741	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183744	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183750	1.00[YRI][hapmap]
rs11183751	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183752	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11183759	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11183760	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11183761	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11183777	0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs11183783	1.00[YRI][hapmap]
rs12368600	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12370192	0.80[CEU][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes]
rs12370851	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1554693	1.00[YRI][hapmap]
rs17222290	0.81[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes]
rs17821774	1.00[YRI][hapmap]
rs1917655	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1917656	0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1917657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768142	0.81[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes]
rs4768143	1.00[YRI][hapmap]
rs4768779	1.00[YRI][hapmap]
rs4768781	1.00[YRI][hapmap]
rs4768782	1.00[YRI][hapmap]
rs73101453	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73108103	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73108123	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7955924	0.84[EUR][1000 genomes]
rs7965849	0.84[EUR][1000 genomes]
rs952967	0.96[CEU][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47492200-47511600	Weak transcription	Lung	lung
2	chr12:47494400-47514600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:47494400-47514600	Weak transcription	NH-A	brain
4	chr12:47497400-47535200	Weak transcription	Aorta	Aorta
5	chr12:47497600-47511400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:47497600-47514600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:47497800-47514800	Weak transcription	Osteobl	bone
8	chr12:47498800-47511000	Weak transcription	Ovary	ovary
9	chr12:47499600-47514800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:47501800-47512600	Weak transcription	Spleen	Spleen
11	chr12:47505600-47528800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:47505800-47538600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:47506000-47535000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:47506200-47510200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:47506200-47514800	Weak transcription	HSMM	muscle
16	chr12:47506200-47538400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:47506400-47516800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:47506800-47528800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:47507000-47514600	Weak transcription	HMEC	breast
20	chr12:47507400-47532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:47508000-47510200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:47508400-47545200	Weak transcription	HSMMtube	muscle
23	chr12:47508600-47514400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:47508800-47514800	Weak transcription	NHDF-Ad	bronchial
25	chr12:47509200-47528800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:47509200-47529200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:47509400-47510600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:47509400-47514200	Weak transcription	NHEK	skin
29	chr12:47509400-47514400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:47509400-47531800	Weak transcription	Primary T cells from cord blood	blood

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