Variant report

Variant	rs74072671
Chromosome Location	chr12:32719648-32719649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11052086	0.83[AMR][1000 genomes]
rs12301170	0.83[AMR][1000 genomes]
rs12318679	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322494	1.00[AMR][1000 genomes]
rs57077362	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7962643	0.83[AMR][1000 genomes]
rs7976053	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1037224	chr12:32698189-32721994	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv541456	chr12:32698189-32721994	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv973958	chr12:32712509-32726963	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:32704200-32719800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:32711800-32719800	Weak transcription	Gastric	stomach
4	chr12:32711800-32724800	Weak transcription	Fetal Brain Male	brain
5	chr12:32712600-32738600	Weak transcription	Primary B cells from cord blood	blood
6	chr12:32713000-32719800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:32713000-32780400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
9	chr12:32713800-32738400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:32714000-32740600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:32714800-32720000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:32715200-32720200	Weak transcription	Small Intestine	intestine
13	chr12:32715200-32720200	Weak transcription	NHLF	lung
14	chr12:32715200-32722200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:32715200-32735000	Weak transcription	Placenta	Placenta
16	chr12:32715200-32753800	Weak transcription	Fetal Brain Female	brain
17	chr12:32715200-32760200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:32715400-32730600	Weak transcription	Fetal Stomach	stomach
19	chr12:32716400-32719800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:32717000-32720000	Strong transcription	Liver	Liver
21	chr12:32717000-32722200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:32717000-32723000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:32717000-32723000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr12:32717000-32723600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr12:32717400-32722200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:32717400-32722200	Enhancers	Brain Anterior Caudate	brain
27	chr12:32717600-32719800	Enhancers	Brain Hippocampus Middle	brain
28	chr12:32717800-32719800	Weak transcription	Lung	lung
29	chr12:32717800-32720000	Weak transcription	Esophagus	oesophagus
30	chr12:32717800-32720400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:32717800-32721200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:32718200-32722600	Enhancers	Brain Angular Gyrus	brain
33	chr12:32718200-32722800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr12:32718400-32719800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr12:32718400-32719800	Enhancers	Brain Substantia Nigra	brain
36	chr12:32718400-32721000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:32718400-32722600	Enhancers	Stomach Mucosa	stomach
38	chr12:32718600-32719800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:32718600-32719800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:32718600-32721200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:32718600-32722600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr12:32718600-32722600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:32718800-32720600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr12:32718800-32722600	Enhancers	Brain Cingulate Gyrus	brain
45	chr12:32719000-32719800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:32719000-32719800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
47	chr12:32719000-32719800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:32719000-32719800	Strong transcription	Spleen	Spleen
49	chr12:32719000-32720000	Enhancers	Psoas Muscle	Psoas
50	chr12:32719000-32720200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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