Variant report

Variant	rs4768422
Chromosome Location	chr12:42982048-42982049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42975394..42979509-chr12:42980340..42982880,4	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10785348	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs10880324	0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11181569	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141929	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv989438	chr12:42981066-42988699	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4768422	KIF21A	cis	cerebellum	SCAN
rs4768422	TMEM117	cis	parietal	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42979800-42982400	Weak transcription	Psoas Muscle	Psoas
2	chr12:42980000-42985000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:42980600-42984200	Active TSS	HSMMtube	muscle
4	chr12:42980800-42982200	Flanking Active TSS	HMEC	breast
5	chr12:42980800-42982200	Flanking Active TSS	Osteobl	bone
6	chr12:42980800-42982600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:42980800-42984200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:42981000-42982200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:42981000-42982200	Bivalent Enhancer	A549	lung
10	chr12:42981000-42984000	Active TSS	Brain Angular Gyrus	brain
11	chr12:42981000-42984000	Active TSS	Fetal Muscle Leg	muscle
12	chr12:42981200-42982200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr12:42981200-42982400	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr12:42981200-42982600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr12:42981200-42983000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:42981200-42983800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
17	chr12:42981200-42984000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:42981200-42985000	Active TSS	Right Atrium	heart
19	chr12:42981400-42982200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
20	chr12:42981400-42982200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr12:42981400-42982200	Flanking Active TSS	Fetal Lung	lung
22	chr12:42981400-42982400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr12:42981400-42982400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:42981400-42982400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:42981400-42982400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr12:42981400-42982400	Enhancers	Stomach Mucosa	stomach
27	chr12:42981400-42982600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:42981400-42982600	Flanking Active TSS	NHEK	skin
29	chr12:42981400-42984000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:42981400-42984000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
31	chr12:42981400-42984200	Active TSS	Brain Anterior Caudate	brain
32	chr12:42981400-42984800	Active TSS	Right Ventricle	heart
33	chr12:42981600-42982200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr12:42981600-42982200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr12:42981600-42982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:42981600-42982400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr12:42981600-42982400	Weak transcription	Lung	lung
38	chr12:42981600-42982800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:42981600-42982800	Active TSS	Fetal Muscle Trunk	muscle
40	chr12:42981600-42982800	Active TSS	Fetal Stomach	stomach
41	chr12:42981600-42983000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:42981600-42983200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:42981600-42983200	Active TSS	Fetal Heart	heart
44	chr12:42981600-42983200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr12:42981600-42984200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:42981600-42984400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr12:42981600-42985000	Active TSS	Fetal Kidney	kidney
48	chr12:42981800-42982200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:42981800-42982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:42981800-42982400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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