Variant report

Variant	rs12192671
Chromosome Location	chr6:143108245-143108246
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	GATA3	chr6:143107431-143108246	SK-N-SH	brain:	n/a	chr6:143108062-143108078 chr6:143107835-143107842 chr6:143107835-143107842 chr6:143107833-143107842 chr6:143108065-143108074 chr6:143107833-143107843 chr6:143107835-143107842 chr6:143107828-143107849

Variant related genes	Relation type
ENSG00000237851	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12205474	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12211360	0.81[EUR][1000 genomes]
rs34530989	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34947356	0.82[AMR][1000 genomes];0.91[EUR][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	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830828	chr6:142970134-143116517	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143094800-143109000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:143095800-143117600	Weak transcription	Fetal Lung	lung
3	chr6:143095800-143122200	Weak transcription	NHEK	skin
4	chr6:143096000-143108400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:143096000-143111200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:143096000-143117800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:143096000-143122000	Weak transcription	Fetal Intestine Small	intestine
8	chr6:143096200-143120800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:143096200-143140800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:143103600-143117600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:143103600-143124800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:143103800-143125400	Weak transcription	Fetal Thymus	thymus
13	chr6:143104600-143113200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr6:143105800-143111400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:143105800-143112000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr6:143105800-143121000	Weak transcription	Brain Angular Gyrus	brain
17	chr6:143105800-143140400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:143106000-143111400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr6:143106000-143118800	Weak transcription	Primary B cells from cord blood	blood
20	chr6:143106000-143128200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:143106000-143140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:143106200-143112000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr6:143106200-143116800	Weak transcription	GM12878-XiMat	blood
24	chr6:143106800-143108600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:143106800-143110800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:143107000-143108600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:143107000-143110400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:143107000-143111200	Weak transcription	Primary T cells from cord blood	blood
29	chr6:143107000-143111600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:143107400-143108400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr6:143107400-143108400	Enhancers	Osteobl	bone
32	chr6:143107400-143108800	Enhancers	NHDF-Ad	bronchial
33	chr6:143107600-143108800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:143107800-143108400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:143107800-143108600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:143107800-143109000	Enhancers	Brain Substantia Nigra	brain
37	chr6:143107800-143109200	Enhancers	Brain Anterior Caudate	brain
38	chr6:143108000-143108400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:143108000-143108400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:143108000-143108400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:143108000-143108400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:143108000-143109200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr6:143108000-143109200	Enhancers	Brain Hippocampus Middle	brain
44	chr6:143108000-143109600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr6:143108200-143108400	Enhancers	Aorta	Aorta
46	chr6:143108200-143121200	Weak transcription	HSMM	muscle

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