Variant report

Variant	rs12321931
Chromosome Location	chr12:48435636-48435637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48428906..48431676-chr12:48435313..48438563,3	MCF-7	breast:
2	chr12:48435313..48437988-chr12:48451982..48454529,2	K562	blood:
3	chr12:48433439..48436867-chr12:48436934..48440362,3	K562	blood:
4	chr12:48422677..48425414-chr12:48434042..48436175,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10161320	1.00[AMR][1000 genomes]
rs11168384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168405	1.00[AMR][1000 genomes]
rs11168457	1.00[AMR][1000 genomes]
rs11574030	1.00[AMR][1000 genomes]
rs12303042	1.00[AMR][1000 genomes]
rs12303151	1.00[AMR][1000 genomes]
rs12303317	1.00[AMR][1000 genomes]
rs12303908	1.00[AMR][1000 genomes]
rs12304251	1.00[AMR][1000 genomes]
rs12306869	1.00[AMR][1000 genomes]
rs12310743	1.00[AMR][1000 genomes]
rs12322803	1.00[AMR][1000 genomes]
rs73301128	1.00[AMR][1000 genomes]
rs73301161	1.00[AMR][1000 genomes]
rs73301164	1.00[AMR][1000 genomes]
rs7358642	1.00[AMR][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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	57 gene(s)	inside rSNPs	diseases
3	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS 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 miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48422800-48438800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:48424800-48437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:48429200-48437000	Weak transcription	GM12878-XiMat	blood
4	chr12:48429600-48436400	Weak transcription	HMEC	breast
5	chr12:48431400-48436600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:48431400-48438200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:48431400-48438400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:48431600-48437800	Weak transcription	Brain Germinal Matrix	brain
9	chr12:48431800-48435800	Weak transcription	Primary B cells from cord blood	blood
10	chr12:48431800-48436000	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:48431800-48436400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:48431800-48436400	Weak transcription	Placenta	Placenta
13	chr12:48431800-48437000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:48431800-48437000	Weak transcription	Liver	Liver
15	chr12:48431800-48437600	Weak transcription	Adipose Nuclei	Adipose
16	chr12:48431800-48438200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:48431800-48438200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:48431800-48438200	Weak transcription	Fetal Stomach	stomach
19	chr12:48431800-48438200	Weak transcription	Lung	lung
20	chr12:48431800-48438200	Weak transcription	Pancreas	Pancrea
21	chr12:48431800-48438400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:48431800-48438400	Weak transcription	K562	blood
23	chr12:48431800-48438800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:48431800-48456600	Weak transcription	NHLF	lung
25	chr12:48432000-48435800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:48432000-48436000	Weak transcription	Fetal Thymus	thymus
27	chr12:48432000-48436400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:48432000-48436400	Weak transcription	Brain Angular Gyrus	brain
29	chr12:48432000-48436400	Weak transcription	Fetal Lung	lung
30	chr12:48432000-48436400	Weak transcription	HSMM	muscle
31	chr12:48432000-48436800	Weak transcription	NH-A	brain
32	chr12:48432000-48437000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:48432000-48438200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:48432000-48438200	Weak transcription	Right Ventricle	heart
35	chr12:48432000-48438200	Weak transcription	Spleen	Spleen
36	chr12:48432000-48438400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:48432000-48438400	Weak transcription	Fetal Kidney	kidney
38	chr12:48432000-48438400	Weak transcription	Ovary	ovary
39	chr12:48432000-48438800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:48432000-48438800	Weak transcription	NHDF-Ad	bronchial
41	chr12:48432000-48439800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:48432000-48439800	Weak transcription	Fetal Heart	heart
43	chr12:48432000-48463400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:48432200-48436200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:48432200-48436400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:48432200-48436600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr12:48432200-48436600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:48432200-48436800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:48432200-48437000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:48432200-48438200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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