Variant report

Variant	rs12813399
Chromosome Location	chr12:31826442-31826443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31826345..31828497-chr12:31834102..31835695,2	K562	blood:

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

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

rs_ID	r²[population]
rs10844000	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10844003	0.83[AMR][1000 genomes]
rs11051525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051541	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051545	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051555	0.83[AMR][1000 genomes]
rs11051559	0.80[AMR][1000 genomes]
rs12813042	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12813695	0.80[AMR][1000 genomes]
rs35517071	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7134951	0.88[AMR][1000 genomes]
rs7297921	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300260	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7302229	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7953551	0.83[AMR][1000 genomes]
rs7960893	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7969019	0.83[AMR][1000 genomes]
rs7978407	0.95[AMR][1000 genomes];0.87[EUR][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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31813200-31837000	Weak transcription	Fetal Brain Male	brain
2	chr12:31813400-31826600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:31813400-31835200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:31813400-31835600	Weak transcription	Brain Angular Gyrus	brain
5	chr12:31813400-31836200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:31815200-31840600	Weak transcription	Pancreas	Pancrea
7	chr12:31817400-31850400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:31822400-31827200	Weak transcription	Fetal Stomach	stomach
9	chr12:31822400-31828600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:31822400-31835600	Weak transcription	Fetal Lung	lung
11	chr12:31822400-31836600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:31822400-31840600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:31822600-31827800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:31822600-31828000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:31822600-31829600	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:31822600-31830400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:31822600-31830800	Weak transcription	HSMMtube	muscle
18	chr12:31822600-31835200	Weak transcription	Ovary	ovary
19	chr12:31822600-31835600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:31822600-31835600	Weak transcription	Fetal Brain Female	brain
21	chr12:31822600-31835600	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:31822600-31836000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:31822600-31836400	Weak transcription	Brain Anterior Caudate	brain
24	chr12:31822600-31862000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
26	chr12:31822800-31826600	Weak transcription	HSMM	muscle
27	chr12:31822800-31826800	Weak transcription	Placenta	Placenta
28	chr12:31822800-31827200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:31822800-31828800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr12:31822800-31830400	Weak transcription	A549	lung
31	chr12:31822800-31830600	Weak transcription	Brain Germinal Matrix	brain
32	chr12:31822800-31830800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:31822800-31834800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:31822800-31835000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:31822800-31835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:31822800-31835600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:31822800-31835600	Weak transcription	Dnd41	blood
38	chr12:31823000-31835400	Weak transcription	Fetal Intestine Small	intestine
39	chr12:31823200-31826600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:31823200-31827000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:31823400-31835600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:31823600-31826600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:31823600-31835200	Weak transcription	Thymus	Thymus
44	chr12:31823800-31827400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:31823800-31828200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:31823800-31830400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:31823800-31836200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:31824000-31828600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:31824200-31827400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:31824600-31835600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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