Variant report

Variant	rs28690783
Chromosome Location	chr12:31810886-31810887
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr12:31810851-31810934	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31810792..31812576-chr12:31866206..31867920,2	K562	blood:
2	chr12:31476939..31478876-chr12:31810425..31813843,3	MCF-7	breast:
3	chr12:31809401..31811768-chr12:31881591..31883245,2	K562	blood:
4	chr12:31477479..31479253-chr12:31810754..31812715,2	K562	blood:
5	chr12:31810468..31812226-chr12:32831182..32833517,2	K562	blood:

No data

Variant related genes	Relation type
METTL20	TF binding region
ENSG00000151743	Chromatin interaction
ENSG00000177340	Chromatin interaction
ENSG00000139146	Chromatin interaction
ENSG00000266482	Chromatin interaction
ENSG00000087470	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs61732558	1.00[AMR][1000 genomes]
rs7134441	1.00[AMR][1000 genomes]
rs7135242	1.00[AMR][1000 genomes]
rs7315065	1.00[AMR][1000 genomes]
rs73301834	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers 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 target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31799200-31811400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:31800200-31811600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:31800400-31811400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:31804000-31811600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:31804000-31811600	Weak transcription	Lung	lung
6	chr12:31806200-31811000	Weak transcription	Fetal Intestine Large	intestine
7	chr12:31806200-31811200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:31806200-31811400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:31806200-31811400	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:31806400-31811200	Weak transcription	Fetal Kidney	kidney
11	chr12:31806400-31811400	Weak transcription	Primary B cells from cord blood	blood
12	chr12:31806600-31811000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:31806600-31811200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:31806600-31811200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:31806600-31811200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:31806600-31811200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:31806600-31811200	Weak transcription	Stomach Mucosa	stomach
18	chr12:31806600-31811200	Weak transcription	NHEK	skin
19	chr12:31806600-31811400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:31806600-31811400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:31806600-31811400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:31806600-31811400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:31806600-31811400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:31806600-31811400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:31806600-31811400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:31806600-31811400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:31806600-31811400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:31806600-31811400	Weak transcription	Adipose Nuclei	Adipose
29	chr12:31806600-31811400	Weak transcription	Liver	Liver
30	chr12:31806600-31811400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:31806600-31811400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:31806600-31811400	Weak transcription	Fetal Lung	lung
33	chr12:31806600-31811400	Weak transcription	Fetal Stomach	stomach
34	chr12:31806600-31811400	Weak transcription	Thymus	Thymus
35	chr12:31806600-31811400	Weak transcription	HMEC	breast
36	chr12:31806600-31811400	Weak transcription	HSMM	muscle
37	chr12:31806600-31811400	Weak transcription	NHDF-Ad	bronchial
38	chr12:31806600-31811400	Weak transcription	Osteobl	bone
39	chr12:31806600-31811600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:31806600-31811600	Weak transcription	NHLF	lung
41	chr12:31806800-31811200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:31806800-31811200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:31806800-31811200	Weak transcription	Dnd41	blood
44	chr12:31806800-31811400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:31806800-31811400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:31806800-31811400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr12:31806800-31811400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:31806800-31811400	Weak transcription	Colonic Mucosa	Colon
49	chr12:31806800-31811400	Weak transcription	Fetal Thymus	thymus
50	chr12:31806800-31811400	Weak transcription	Rectal Mucosa Donor 31	rectum

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