Variant report

Variant	rs1492364
Chromosome Location	chr12:42479450-42479451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42477798..42480028-chr12:42482266..42483853,2	K562	blood:
2	chr12:42477955..42479692-chr12:42628844..42631560,2	K562	blood:
3	chr12:42471227..42474055-chr12:42478487..42480397,2	K562	blood:

Variant related genes	Relation type
ENSG00000015153	Chromatin interaction
ENSG00000222884	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1074428	0.82[EUR][1000 genomes]
rs11610892	0.94[CEU][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap]
rs11611399	0.93[EUR][1000 genomes]
rs11613623	0.80[EUR][1000 genomes]
rs12812537	0.93[EUR][1000 genomes]
rs12812574	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12813181	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs12819127	1.00[CEU][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap]
rs12819341	0.88[EUR][1000 genomes]
rs12823639	0.89[EUR][1000 genomes]
rs12824122	0.87[EUR][1000 genomes]
rs12824857	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17224170	1.00[CEU][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs17224177	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs1732340	0.83[EUR][1000 genomes]
rs1872444	0.94[CEU][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap]
rs34064806	0.87[EUR][1000 genomes]
rs34152211	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34331898	0.80[EUR][1000 genomes]
rs34619605	0.94[EUR][1000 genomes]
rs34669984	0.81[EUR][1000 genomes]
rs35644702	0.82[EUR][1000 genomes]
rs35682620	0.80[EUR][1000 genomes]
rs4264206	0.89[EUR][1000 genomes]
rs4332578	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56142563	0.82[EUR][1000 genomes]
rs58891308	0.89[EUR][1000 genomes]
rs67420641	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs68185827	0.89[EUR][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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1047830	chr12:42466192-42497603	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42464600-42484000	Weak transcription	HSMM	muscle
2	chr12:42468400-42490200	Weak transcription	Spleen	Spleen
3	chr12:42469400-42491800	Weak transcription	Ovary	ovary
4	chr12:42470400-42484000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:42470600-42484000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:42470600-42491400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:42470800-42480000	Weak transcription	A549	lung
8	chr12:42470800-42485600	Weak transcription	Aorta	Aorta
9	chr12:42471000-42504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:42471200-42483400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:42471400-42485600	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:42471800-42483400	Weak transcription	Fetal Stomach	stomach
13	chr12:42471800-42486600	Weak transcription	Fetal Intestine Small	intestine
14	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
15	chr12:42472200-42487800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:42472800-42489000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:42473400-42480200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:42473600-42481000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:42473600-42483600	Weak transcription	Adipose Nuclei	Adipose
20	chr12:42473600-42484000	Weak transcription	HUVEC	blood vessel
21	chr12:42473600-42484200	Weak transcription	Primary T cells from cord blood	blood
22	chr12:42473800-42484000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:42474000-42484000	Weak transcription	NH-A	brain
24	chr12:42474000-42484200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:42474000-42496000	Weak transcription	Fetal Intestine Large	intestine
26	chr12:42474200-42479600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:42474200-42484000	Weak transcription	Osteobl	bone
28	chr12:42474200-42486000	Weak transcription	GM12878-XiMat	blood
29	chr12:42474200-42487800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:42474200-42490600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:42474400-42480400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:42474600-42479800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:42474600-42480600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:42474600-42482600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
37	chr12:42474800-42487600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:42474800-42487600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr12:42474800-42491800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:42475000-42484200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:42475000-42491800	Weak transcription	Brain Substantia Nigra	brain
42	chr12:42475400-42485600	Weak transcription	Left Ventricle	heart
43	chr12:42476000-42485600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:42476000-42524400	Weak transcription	Gastric	stomach
45	chr12:42476200-42480800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:42476200-42487000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
48	chr12:42476400-42479800	Weak transcription	Primary B cells from cord blood	blood
49	chr12:42476400-42481200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:42476400-42482800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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