Variant report

Variant	rs704216
Chromosome Location	chr12:22047151-22047152
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	chr12:22041351..22043151-chr12:22046321..22048748,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10734715	1.00[AFR][1000 genomes]
rs10743427	1.00[YRI][hapmap]
rs10770864	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10770865	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10841913	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11836605	1.00[AMR][1000 genomes]
rs1283796	1.00[AMR][1000 genomes]
rs1283803	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1283818	1.00[AMR][1000 genomes]
rs1517273	1.00[AFR][1000 genomes]
rs2544443	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4762718	1.00[AMR][1000 genomes]
rs60507695	1.00[AMR][1000 genomes]
rs60867568	1.00[AMR][1000 genomes]
rs6487252	1.00[AFR][1000 genomes]
rs697250	1.00[YRI][hapmap]
rs697251	1.00[YRI][hapmap]
rs704195	1.00[YRI][hapmap]
rs704199	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs704200	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs704201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs704204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs704207	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs704213	1.00[AMR][1000 genomes]
rs704214	1.00[AMR][1000 genomes]
rs704218	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs73249205	1.00[AMR][1000 genomes]
rs73262391	1.00[AMR][1000 genomes]
rs73262395	1.00[AMR][1000 genomes]
rs73266378	1.00[AMR][1000 genomes]
rs73266381	1.00[AMR][1000 genomes]
rs7975476	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7979299	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs829067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs829071	1.00[AMR][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	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv470275	chr12:21938544-22126314	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv898900	chr12:22044843-22083212	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22035200-22058600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:22035200-22092200	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:22041600-22050600	Weak transcription	Fetal Lung	lung
4	chr12:22044000-22047200	Enhancers	Rectal Smooth Muscle	rectum
5	chr12:22044400-22048400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr12:22044800-22049400	Enhancers	Colon Smooth Muscle	Colon
7	chr12:22045000-22059200	Weak transcription	Left Ventricle	heart
8	chr12:22045200-22047800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:22045200-22053800	Weak transcription	Right Ventricle	heart
10	chr12:22045200-22058800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:22045400-22064800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:22045600-22047800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:22045600-22047800	Enhancers	Stomach Smooth Muscle	stomach
14	chr12:22045600-22049200	Weak transcription	Fetal Stomach	stomach
15	chr12:22045600-22053000	Weak transcription	Aorta	Aorta
16	chr12:22045600-22059200	Weak transcription	NHLF	lung
17	chr12:22045600-22064800	Weak transcription	Fetal Heart	heart
18	chr12:22046000-22059000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:22046200-22047200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:22046600-22047600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:22046600-22047600	Weak transcription	Adipose Nuclei	Adipose
22	chr12:22046800-22047200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
23	chr12:22047000-22047800	Flanking Active TSS	Liver	Liver
24	chr12:22047000-22048000	Enhancers	Psoas Muscle	Psoas

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