Variant report

Variant	rs60387118
Chromosome Location	chr12:32127255-32127256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32126645..32128602-chr12:32133630..32135782,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1684130	1.00[AMR][1000 genomes]
rs57655004	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59685434	1.00[AMR][1000 genomes]
rs61353224	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294842	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294846	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294866	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294878	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294884	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294886	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294887	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298610	1.00[AMR][1000 genomes]
rs73298611	1.00[AMR][1000 genomes]
rs73298612	1.00[AMR][1000 genomes]
rs73298627	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers 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 target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32114000-32150800	Weak transcription	NHLF	lung
2	chr12:32114400-32132200	Weak transcription	NH-A	brain
3	chr12:32114800-32134000	Weak transcription	HMEC	breast
4	chr12:32116000-32141800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr12:32116400-32143200	ZNF genes & repeats	GM12878-XiMat	blood
6	chr12:32120000-32130200	ZNF genes & repeats	Dnd41	blood
7	chr12:32120200-32132000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:32120200-32132200	Weak transcription	Right Ventricle	heart
9	chr12:32120600-32141600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:32120800-32140400	ZNF genes & repeats	Primary T cells from cord blood	blood
11	chr12:32121200-32132000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:32121200-32139000	ZNF genes & repeats	Fetal Brain Female	brain
13	chr12:32121800-32127600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:32121800-32129800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:32121800-32141600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr12:32122000-32127800	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr12:32122200-32129000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:32122200-32131600	Strong transcription	Placenta	Placenta
19	chr12:32122400-32129200	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:32122600-32128000	ZNF genes & repeats	Thymus	Thymus
21	chr12:32122600-32128800	Strong transcription	Hela-S3	cervix
22	chr12:32122600-32129800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:32122600-32137800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr12:32122600-32138400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:32122600-32139000	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr12:32123000-32127800	Strong transcription	Stomach Smooth Muscle	stomach
27	chr12:32123000-32130000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:32123200-32127800	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr12:32123200-32128000	Strong transcription	HUVEC	blood vessel
30	chr12:32123200-32129200	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:32123200-32129600	Strong transcription	Adipose Nuclei	Adipose
32	chr12:32123200-32130600	ZNF genes & repeats	K562	blood
33	chr12:32123200-32131400	Strong transcription	Liver	Liver
34	chr12:32123200-32137800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:32123200-32138800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:32123200-32139600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr12:32123200-32143800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
38	chr12:32123400-32127600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:32123400-32127600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:32123400-32127600	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr12:32123400-32143200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
42	chr12:32123600-32127800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:32123800-32128200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:32123800-32128200	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr12:32123800-32133400	Weak transcription	NHDF-Ad	bronchial
46	chr12:32123800-32143200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
47	chr12:32124000-32127400	Strong transcription	Esophagus	oesophagus
48	chr12:32124000-32128200	ZNF genes & repeats	Fetal Thymus	thymus
49	chr12:32124000-32133600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
50	chr12:32124200-32127800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood

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