Variant report

Variant	rs1245182
Chromosome Location	chr12:65059050-65059051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65057089..65059897-chr12:65066585..65070276,3	K562	blood:
2	chr12:65048771..65052782-chr12:65056802..65060601,5	MCF-7	breast:
3	chr12:65052809..65057166-chr12:65058772..65061911,4	MCF-7	breast:
4	chr12:65057089..65063734-chr12:65063788..65069344,8	K562	blood:

Variant related genes	Relation type
ENSG00000256314	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1147106	0.84[YRI][hapmap]
rs1797685	0.94[ASN][1000 genomes]
rs2620726	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2682717	0.91[YRI][hapmap]
rs2682721	0.92[YRI][hapmap]
rs2682724	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65025000-65059600	Weak transcription	Thymus	Thymus
2	chr12:65033600-65059400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:65043600-65059600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:65044000-65059400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:65047000-65059400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:65047200-65059400	Weak transcription	Fetal Stomach	stomach
7	chr12:65047400-65059400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:65047800-65059400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:65047800-65059400	Weak transcription	NHLF	lung
10	chr12:65047800-65063000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:65048000-65060400	Weak transcription	Dnd41	blood
12	chr12:65048000-65063000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:65048400-65062200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:65048600-65059400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:65048800-65060200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:65049000-65059600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr12:65049200-65062200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:65049800-65059600	Weak transcription	Placenta	Placenta
19	chr12:65050400-65059400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:65050400-65059400	Weak transcription	NH-A	brain
21	chr12:65051600-65060600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:65052800-65059200	Weak transcription	Lung	lung
23	chr12:65052800-65059400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr12:65053000-65059400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:65053000-65059400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr12:65053000-65059600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:65053400-65059200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:65053400-65059200	Weak transcription	Fetal Intestine Small	intestine
29	chr12:65053400-65059400	Weak transcription	Adipose Nuclei	Adipose
30	chr12:65053400-65059400	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:65053600-65059200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:65054800-65059400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:65054800-65060400	Weak transcription	Aorta	Aorta
34	chr12:65054800-65061400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:65055000-65059400	Weak transcription	Pancreas	Pancrea
36	chr12:65055000-65060400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:65055200-65059200	Weak transcription	Left Ventricle	heart
38	chr12:65055200-65060400	Weak transcription	Spleen	Spleen
39	chr12:65055400-65060400	Weak transcription	Right Ventricle	heart
40	chr12:65055600-65059400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:65056200-65062200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr12:65056400-65059400	Enhancers	Primary T cells from cord blood	blood
43	chr12:65056400-65059800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr12:65056400-65060400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr12:65056400-65061800	Enhancers	Hela-S3	cervix
46	chr12:65056600-65059600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:65056600-65060400	Weak transcription	Esophagus	oesophagus
48	chr12:65056800-65059200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:65056800-65059400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:65056800-65059400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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