Variant report

Variant	rs12424092
Chromosome Location	chr12:106873320-106873321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1004601	0.83[ASN][1000 genomes]
rs10778475	0.90[AFR][1000 genomes]
rs10778478	0.81[AFR][1000 genomes]
rs10778480	0.90[AFR][1000 genomes]
rs10778481	0.90[AFR][1000 genomes]
rs10778482	0.89[ASN][1000 genomes]
rs10861594	0.82[AFR][1000 genomes]
rs10861597	0.81[AFR][1000 genomes]
rs10861599	0.81[AFR][1000 genomes]
rs10861609	0.90[AFR][1000 genomes]
rs10861613	0.90[AFR][1000 genomes]
rs12298876	0.81[AFR][1000 genomes]
rs17221107	0.90[AFR][1000 genomes]
rs2244958	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2254755	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2264758	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2264759	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2288270	0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61941922	0.90[AFR][1000 genomes]
rs6539270	0.87[AFR][1000 genomes]
rs6539271	0.90[AFR][1000 genomes]
rs7137444	0.81[ASN][1000 genomes]
rs7137445	0.81[AFR][1000 genomes]
rs7137638	0.81[ASN][1000 genomes]
rs7139249	0.90[AFR][1000 genomes]
rs721438	0.84[ASN][1000 genomes]
rs7297873	0.81[AFR][1000 genomes]
rs7303737	0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7306277	0.81[AFR][1000 genomes]
rs7313040	0.90[AFR][1000 genomes]
rs7313412	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7315611	0.83[ASN][1000 genomes]
rs7963213	0.90[AFR][1000 genomes]
rs7969743	0.81[AFR][1000 genomes]
rs7976305	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3435035	chr12:106765277-107015325	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832510	chr12:106787730-106951140	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106828600-106905800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:106853400-106886400	Weak transcription	Fetal Kidney	kidney
3	chr12:106854200-106886800	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:106854400-106874000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:106854400-106904800	Weak transcription	HSMM	muscle
6	chr12:106854600-106899800	Weak transcription	Fetal Thymus	thymus
7	chr12:106854800-106874800	Weak transcription	HepG2	liver
8	chr12:106855800-106895600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:106855800-106896200	Weak transcription	Thymus	Thymus
10	chr12:106856000-106893000	Weak transcription	Right Ventricle	heart
11	chr12:106856800-106884000	Weak transcription	NHEK	skin
12	chr12:106856800-106889400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:106856800-106899400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:106857200-106890200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:106858600-106895400	Weak transcription	Fetal Heart	heart
16	chr12:106859200-106882800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:106865200-106874800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:106865200-106881800	Weak transcription	Pancreas	Pancrea
19	chr12:106865200-106889800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:106865200-106890600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:106865200-106892400	Weak transcription	Aorta	Aorta
22	chr12:106865400-106873800	Weak transcription	Fetal Intestine Small	intestine
23	chr12:106865400-106873800	Weak transcription	Left Ventricle	heart
24	chr12:106865400-106874000	Weak transcription	Primary B cells from cord blood	blood
25	chr12:106865400-106879800	Weak transcription	Brain Germinal Matrix	brain
26	chr12:106865400-106887600	Weak transcription	Fetal Stomach	stomach
27	chr12:106865400-106888000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:106865400-106889200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:106865400-106889200	Weak transcription	Lung	lung
30	chr12:106865400-106889200	Weak transcription	Ovary	ovary
31	chr12:106865400-106889400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:106865400-106889400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:106865400-106889800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:106865400-106889800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:106865400-106890400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:106865400-106890400	Weak transcription	Colonic Mucosa	Colon
37	chr12:106865400-106890400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:106865400-106891800	Weak transcription	Gastric	stomach
39	chr12:106865400-106893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:106865400-106895200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:106865400-106897800	Weak transcription	Spleen	Spleen
42	chr12:106865600-106873600	Weak transcription	Fetal Intestine Large	intestine
43	chr12:106865600-106873600	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:106865600-106873800	Weak transcription	Primary T cells from cord blood	blood
45	chr12:106865600-106873800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr12:106865600-106875000	Weak transcription	A549	lung
47	chr12:106865600-106876200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:106865600-106876400	Weak transcription	Liver	Liver
49	chr12:106865600-106878600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:106865600-106880200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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