Variant report

Variant	rs7954999
Chromosome Location	chr12:67672905-67672906
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67671859..67674650-chr12:67694307..67697083,2	MCF-7	breast:
2	chr12:67672008..67673697-chr12:67685020..67687108,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10128823	1.00[EUR][1000 genomes]
rs10129028	1.00[EUR][1000 genomes]
rs11176672	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176676	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176679	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11176684	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11176691	1.00[EUR][1000 genomes]
rs11176692	1.00[EUR][1000 genomes]
rs11176693	1.00[EUR][1000 genomes]
rs11176694	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs11176715	1.00[EUR][1000 genomes]
rs11176740	1.00[EUR][1000 genomes]
rs11503726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12297966	1.00[EUR][1000 genomes]
rs12299042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299097	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300582	1.00[EUR][1000 genomes]
rs12303089	1.00[EUR][1000 genomes]
rs12306375	1.00[EUR][1000 genomes]
rs12307363	1.00[EUR][1000 genomes]
rs12307464	1.00[EUR][1000 genomes]
rs12311491	1.00[EUR][1000 genomes]
rs12311797	1.00[EUR][1000 genomes]
rs12311840	1.00[EUR][1000 genomes]
rs12311845	1.00[EUR][1000 genomes]
rs12312040	1.00[EUR][1000 genomes]
rs12313282	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12314503	1.00[EUR][1000 genomes]
rs12315624	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12318518	1.00[EUR][1000 genomes]
rs12318591	1.00[EUR][1000 genomes]
rs12318995	1.00[EUR][1000 genomes]
rs12320566	1.00[EUR][1000 genomes]
rs12321396	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322901	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103392	1.00[EUR][1000 genomes]
rs17103652	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103772	1.00[EUR][1000 genomes]
rs17120707	1.00[EUR][1000 genomes]
rs17120710	1.00[EUR][1000 genomes]
rs4083304	1.00[EUR][1000 genomes]
rs57886620	1.00[EUR][1000 genomes]
rs61504642	1.00[EUR][1000 genomes]
rs6581751	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7135195	1.00[EUR][1000 genomes]
rs7294827	1.00[EUR][1000 genomes]
rs7306853	1.00[EUR][1000 genomes]
rs7307643	1.00[EUR][1000 genomes]
rs7312079	1.00[EUR][1000 genomes]
rs73320752	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73322616	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73326445	1.00[EUR][1000 genomes]
rs73326448	1.00[EUR][1000 genomes]
rs73326466	1.00[EUR][1000 genomes]
rs7962872	1.00[EUR][1000 genomes]
rs7964763	1.00[EUR][1000 genomes]
rs7966031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977574	1.00[EUR][1000 genomes]
rs9989007	1.00[EUR][1000 genomes]
rs9989023	1.00[EUR][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	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv525023	chr12:67672870-67708669	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67664600-67684000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:67664800-67694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:67664800-67699600	Weak transcription	Aorta	Aorta
4	chr12:67665200-67673000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:67665200-67675400	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr12:67665200-67675800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:67665200-67675800	Weak transcription	Placenta	Placenta
8	chr12:67665200-67675800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:67665200-67676200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:67665200-67678400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:67665200-67684400	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:67665200-67684600	Weak transcription	Thymus	Thymus
13	chr12:67665200-67690200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:67665200-67699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:67665400-67687600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:67665600-67673800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:67665600-67674600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:67666000-67688400	Weak transcription	Fetal Kidney	kidney
19	chr12:67666000-67701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:67666800-67676200	Weak transcription	Fetal Intestine Large	intestine
21	chr12:67667600-67682600	Weak transcription	Lung	lung
22	chr12:67667800-67673200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr12:67668400-67674400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:67668400-67675800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:67668400-67678400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr12:67668400-67688200	Weak transcription	HUVEC	blood vessel
27	chr12:67668600-67675800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:67668800-67678200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:67669000-67675400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr12:67669000-67675400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr12:67669200-67673200	Enhancers	Ovary	ovary
32	chr12:67669200-67673400	Weak transcription	Liver	Liver
33	chr12:67669400-67675800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:67669400-67683000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:67669600-67673600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:67669600-67674000	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:67669600-67675600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:67669800-67673600	Weak transcription	Adipose Nuclei	Adipose
39	chr12:67669800-67675600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:67669800-67678000	Weak transcription	NH-A	brain
41	chr12:67670000-67673800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr12:67670000-67674000	Weak transcription	Brain Germinal Matrix	brain
43	chr12:67670000-67675600	Weak transcription	HepG2	liver
44	chr12:67670000-67684200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:67670000-67688800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:67670000-67699200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:67670200-67698200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:67670400-67675800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:67670400-67675800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:67670400-67689600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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