Variant report

Variant	rs61955214
Chromosome Location	chr12:123482424-123482425
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	chr12:123479422..123482791-chr12:123483500..123486744,3	K562	blood:
2	chr12:123476420..123479268-chr12:123480429..123483932,4	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10773921	0.87[ASN][1000 genomes]
rs10848428	0.80[ASN][1000 genomes]
rs11060853	0.82[ASN][1000 genomes]
rs11608811	0.88[ASN][1000 genomes]
rs11613937	0.90[ASN][1000 genomes]
rs12425009	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12425850	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1727307	0.80[ASN][1000 genomes]
rs1790094	0.80[ASN][1000 genomes]
rs1984658	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28755851	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3741530	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759115	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3897102	0.99[ASN][1000 genomes]
rs4148862	0.80[ASN][1000 genomes]
rs4148863	0.80[ASN][1000 genomes]
rs4148866	0.82[ASN][1000 genomes]
rs4275659	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55742290	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61955196	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7135296	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7296418	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7305511	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7957096	0.88[ASN][1000 genomes]
rs883562	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs884956	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
8	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv899577	chr12:123435248-123484474	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv560494	chr12:123478378-123560731	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs61955214	SBNO1	Cis_1M	lymphoblastoid	RTeQTL
rs61955214	CDK2AP1	Cis_1M	lymphoblastoid	RTeQTL
rs61955214	MPHOSPH9	Cis_1M	lymphoblastoid	RTeQTL
rs61955214	RP11-282O18.3	cis	Esophagus Mucosa	GTEx
rs61955214	ARL6IP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123466600-123483400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:123466800-123516000	Weak transcription	Small Intestine	intestine
3	chr12:123467600-123504000	Weak transcription	Hela-S3	cervix
4	chr12:123468000-123486200	Strong transcription	Fetal Brain Female	brain
5	chr12:123468800-123485200	Weak transcription	Aorta	Aorta
6	chr12:123469200-123498600	Strong transcription	Primary T cells from cord blood	blood
7	chr12:123469400-123491600	Weak transcription	HMEC	breast
8	chr12:123469400-123509400	Weak transcription	NHDF-Ad	bronchial
9	chr12:123469400-123509600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:123469600-123484600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:123469600-123493200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:123469800-123485800	Strong transcription	Placenta	Placenta
13	chr12:123469800-123486800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:123469800-123491400	Weak transcription	HSMMtube	muscle
15	chr12:123469800-123491600	Weak transcription	Osteobl	bone
16	chr12:123470000-123486200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:123470000-123486200	Weak transcription	HSMM	muscle
18	chr12:123470000-123486600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:123470200-123512800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:123470400-123482800	Strong transcription	Gastric	stomach
21	chr12:123470400-123483600	Weak transcription	Brain Substantia Nigra	brain
22	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung
23	chr12:123470600-123486200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:123471600-123484600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:123472000-123499000	Strong transcription	Thymus	Thymus
26	chr12:123472200-123484200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:123472400-123491400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:123472600-123492800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:123472800-123494200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:123472800-123500400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:123473000-123484400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:123473200-123483800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:123473200-123484200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:123473200-123489400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:123473200-123489400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:123473200-123491200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:123473400-123501000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:123473800-123492600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:123473800-123500800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:123475200-123483800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:123475600-123491400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:123476400-123485200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:123476800-123483800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:123478200-123485800	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr12:123478400-123486800	Strong transcription	Fetal Stomach	stomach
46	chr12:123479000-123482800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:123479000-123483000	Strong transcription	NHLF	lung
48	chr12:123479000-123483200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:123479000-123484000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:123479200-123485400	Weak transcription	Fetal Intestine Large	intestine

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