Variant report

Variant	rs12368600
Chromosome Location	chr12:47550388-47550389
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	chr12:47544469..47546961-chr12:47548595..47550725,2	MCF-7	breast:
2	chr12:47533951..47536352-chr12:47547162..47551314,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10785664	1.00[YRI][hapmap]
rs10785665	1.00[YRI][hapmap]
rs10785668	1.00[YRI][hapmap]
rs10881045	0.81[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes]
rs10881047	0.89[AMR][1000 genomes]
rs10881069	1.00[YRI][hapmap]
rs10881070	1.00[YRI][hapmap]
rs11183738	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11183740	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11183741	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11183744	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11183750	1.00[YRI][hapmap]
rs11183751	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs11183752	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs11183759	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11183760	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11183761	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11183776	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183777	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183779	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs11183783	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs12370192	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12370851	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1554693	1.00[YRI][hapmap]
rs17222290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17821774	1.00[YRI][hapmap]
rs1917655	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1917656	0.84[JPT][hapmap];0.80[EUR][1000 genomes]
rs1917657	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs35456925	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768142	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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];0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73108103	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73108123	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs832729	0.89[CEU][hapmap]
rs952967	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47535800-47554600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47536000-47578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:47536200-47564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:47541600-47558400	Weak transcription	NHEK	skin
5	chr12:47547800-47550600	Enhancers	Ovary	ovary
6	chr12:47548400-47551400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:47548600-47550800	Enhancers	Colon Smooth Muscle	Colon
8	chr12:47548800-47552400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:47549000-47550800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:47549000-47551000	Enhancers	Primary T cells from cord blood	blood
11	chr12:47549000-47551200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:47549200-47550600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:47549200-47550600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr12:47549200-47550600	Enhancers	Duodenum Mucosa	Duodenum
15	chr12:47549200-47550600	Enhancers	Rectal Smooth Muscle	rectum
16	chr12:47549200-47550800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr12:47549200-47550800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr12:47549200-47550800	Enhancers	K562	blood
19	chr12:47549200-47551200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:47549400-47550400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:47549400-47550400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:47549400-47550400	Enhancers	Brain Cingulate Gyrus	brain
23	chr12:47549400-47550600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:47549400-47550600	Enhancers	Primary hematopoietic stem cells	blood
25	chr12:47549400-47550600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr12:47549400-47550600	Enhancers	Stomach Smooth Muscle	stomach
27	chr12:47549400-47550600	Enhancers	NHLF	lung
28	chr12:47549400-47550600	Enhancers	Osteobl	bone
29	chr12:47549400-47550800	Enhancers	Pancreas	Pancrea
30	chr12:47549400-47551200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:47549400-47551200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:47549400-47551400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr12:47549600-47550400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:47549600-47550600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr12:47549600-47550600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:47549600-47550600	Enhancers	Right Atrium	heart
37	chr12:47549600-47550800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:47549600-47551200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:47549800-47550400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:47550000-47550400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:47550000-47550400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr12:47550000-47550400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:47550000-47550400	Enhancers	Lung	lung
44	chr12:47550000-47550600	Enhancers	Brain Substantia Nigra	brain
45	chr12:47550000-47550600	Enhancers	Stomach Mucosa	stomach
46	chr12:47550200-47550400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:47550200-47550400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:47550200-47550400	Enhancers	Adipose Nuclei	Adipose
49	chr12:47550200-47550600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:47550200-47550600	Enhancers	Aorta	Aorta

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