Variant report

Variant	rs12319642
Chromosome Location	chr12:45774224-45774225
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	chr12:45773696..45775338-chr12:45776877..45779787,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11182985	1.00[EUR][1000 genomes]
rs11183020	0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183108	1.00[EUR][1000 genomes]
rs11183109	1.00[EUR][1000 genomes]
rs12298597	1.00[EUR][1000 genomes]
rs12298823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299652	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299715	1.00[EUR][1000 genomes]
rs12303119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12312478	1.00[EUR][1000 genomes]
rs12313889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313957	1.00[EUR][1000 genomes]
rs12316100	1.00[EUR][1000 genomes]
rs12318053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318489	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59027429	1.00[EUR][1000 genomes]
rs6582560	1.00[EUR][1000 genomes]
rs9804810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9804811	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:45745000-45779800	Weak transcription	Gastric	stomach
4	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
7	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:45759800-45776200	Weak transcription	Psoas Muscle	Psoas
11	chr12:45760200-45785600	Weak transcription	Esophagus	oesophagus
12	chr12:45760600-45785800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:45763400-45796000	Weak transcription	Osteobl	bone
15	chr12:45764200-45774400	Weak transcription	Spleen	Spleen
16	chr12:45764200-45778600	Weak transcription	Aorta	Aorta
17	chr12:45764200-45779200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:45764400-45775000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:45764400-45776600	Weak transcription	HSMMtube	muscle
20	chr12:45764400-45776800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:45764400-45777000	Weak transcription	Fetal Kidney	kidney
22	chr12:45764400-45782400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:45764400-45802800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:45764400-45821000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:45764600-45776200	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:45764600-45776600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:45764600-45776800	Weak transcription	NH-A	brain
28	chr12:45764600-45778200	Weak transcription	GM12878-XiMat	blood
29	chr12:45764600-45785600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:45764600-45815400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr12:45764800-45775400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:45764800-45775400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:45764800-45775600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:45764800-45776200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:45764800-45776400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:45764800-45778400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:45770800-45780600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:45771200-45774400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:45771200-45775400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:45771200-45780400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:45771200-45781400	Strong transcription	Primary B cells from cord blood	blood
42	chr12:45771200-45785000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr12:45771200-45785400	Strong transcription	Fetal Thymus	thymus
44	chr12:45771200-45785800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:45771200-45786600	Strong transcription	Dnd41	blood
46	chr12:45771200-45787000	Strong transcription	Adipose Nuclei	Adipose
47	chr12:45771200-45787000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:45771200-45787200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:45771400-45774400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:45771400-45774600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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