Variant report

Variant	rs10843992
Chromosome Location	chr12:31808347-31808348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:31808320-31808404	K562	blood:	n/a	n/a

Variant related genes	Relation type
METTL20	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11051514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051515	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051517	1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs11051519	0.85[ASN][1000 genomes]
rs11051527	0.85[ASN][1000 genomes]
rs11051534	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11051535	0.83[ASN][1000 genomes]
rs11051536	0.88[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11051538	0.91[CHB][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11051540	0.88[CHB][hapmap];0.80[CHD][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11051547	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs11051551	0.88[CHB][hapmap]
rs12231666	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs4931536	0.88[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs4931538	0.85[ASN][1000 genomes]
rs59091295	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61561194	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135907	0.90[AFR][1000 genomes]
rs7308889	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7316528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955365	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7959989	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	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
4	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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

No data

Chromatin state (count:66 , 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	chr12:31804000-31808600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:31804000-31811600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:31804000-31811600	Weak transcription	Lung	lung
7	chr12:31805000-31808600	Weak transcription	Pancreas	Pancrea
8	chr12:31806200-31809200	Weak transcription	Esophagus	oesophagus
9	chr12:31806200-31811000	Weak transcription	Fetal Intestine Large	intestine
10	chr12:31806200-31811200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:31806200-31811400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:31806200-31811400	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:31806400-31811200	Weak transcription	Fetal Kidney	kidney
14	chr12:31806400-31811400	Weak transcription	Primary B cells from cord blood	blood
15	chr12:31806600-31810800	Weak transcription	Fetal Intestine Small	intestine
16	chr12:31806600-31811000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:31806600-31811200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:31806600-31811200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:31806600-31811200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:31806600-31811200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:31806600-31811200	Weak transcription	Stomach Mucosa	stomach
22	chr12:31806600-31811200	Weak transcription	NHEK	skin
23	chr12:31806600-31811400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:31806600-31811400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:31806600-31811400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:31806600-31811400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:31806600-31811400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:31806600-31811400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:31806600-31811400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:31806600-31811400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:31806600-31811400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:31806600-31811400	Weak transcription	Adipose Nuclei	Adipose
33	chr12:31806600-31811400	Weak transcription	Liver	Liver
34	chr12:31806600-31811400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:31806600-31811400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:31806600-31811400	Weak transcription	Fetal Lung	lung
37	chr12:31806600-31811400	Weak transcription	Fetal Stomach	stomach
38	chr12:31806600-31811400	Weak transcription	Thymus	Thymus
39	chr12:31806600-31811400	Weak transcription	HMEC	breast
40	chr12:31806600-31811400	Weak transcription	HSMM	muscle
41	chr12:31806600-31811400	Weak transcription	NHDF-Ad	bronchial
42	chr12:31806600-31811400	Weak transcription	Osteobl	bone
43	chr12:31806600-31811600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:31806600-31811600	Weak transcription	NHLF	lung
45	chr12:31806800-31808400	Weak transcription	Hela-S3	cervix
46	chr12:31806800-31811200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:31806800-31811200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr12:31806800-31811200	Weak transcription	Dnd41	blood
49	chr12:31806800-31811400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:31806800-31811400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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