Variant report

Variant	rs12824385
Chromosome Location	chr12:122737889-122737890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10848035	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11060167	0.81[EUR][1000 genomes]
rs11060333	0.80[EUR][1000 genomes]
rs12423987	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12425684	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12578739	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12578815	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12578863	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12578953	0.87[ASN][1000 genomes]
rs12809220	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12811503	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12814516	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12814554	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12814923	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12816400	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12816499	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12820704	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12822121	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12824701	0.81[EUR][1000 genomes]
rs12824925	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12825008	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12825149	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12825279	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12826834	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12827843	0.83[EUR][1000 genomes]
rs12831210	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1512023	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1967291	0.91[EUR][1000 genomes]
rs2068223	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2271408	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2271409	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2277333	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34325222	0.83[ASN][1000 genomes]
rs34383196	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35030971	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35772530	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35963777	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3782153	0.82[EUR][1000 genomes]
rs3809116	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4758649	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4758677	0.81[EUR][1000 genomes]
rs6488906	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6488909	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7388	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12824385	MLXIP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122711800-122749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:122711800-122749600	Weak transcription	Psoas Muscle	Psoas
3	chr12:122712400-122748600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:122713800-122748800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr12:122716000-122749600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:122716000-122750200	Weak transcription	Fetal Kidney	kidney
7	chr12:122717200-122750000	Weak transcription	Fetal Heart	heart
8	chr12:122719000-122745400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:122720600-122750000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:122720600-122750200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:122721600-122750400	Weak transcription	Small Intestine	intestine
12	chr12:122722000-122741000	Weak transcription	Brain Substantia Nigra	brain
13	chr12:122722000-122750200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:122729400-122742400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:122729600-122741200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:122730600-122742800	Weak transcription	GM12878-XiMat	blood
17	chr12:122730600-122749600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:122730800-122741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:122730800-122748800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:122731000-122746800	Strong transcription	Fetal Intestine Small	intestine
21	chr12:122731200-122748200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:122731400-122748600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:122731800-122748200	Strong transcription	Fetal Intestine Large	intestine
24	chr12:122731800-122748600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:122731800-122748800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:122732200-122748200	Strong transcription	Fetal Stomach	stomach
27	chr12:122732400-122748200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:122732600-122747800	Strong transcription	Thymus	Thymus
29	chr12:122732800-122738000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:122732800-122748600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:122733000-122741200	Weak transcription	HUVEC	blood vessel
32	chr12:122733200-122739400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:122733400-122745800	Weak transcription	Right Ventricle	heart
34	chr12:122733400-122749600	Weak transcription	Colonic Mucosa	Colon
35	chr12:122733400-122750000	Weak transcription	HSMMtube	muscle
36	chr12:122733600-122744000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:122733600-122749600	Weak transcription	HMEC	breast
38	chr12:122734200-122749600	Weak transcription	HepG2	liver
39	chr12:122734600-122738800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:122734600-122744000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:122734800-122740000	Strong transcription	Primary B cells from cord blood	blood
42	chr12:122735200-122740800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:122735200-122740800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:122735200-122741200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:122735200-122741200	Weak transcription	Dnd41	blood
46	chr12:122735200-122741200	Weak transcription	NHDF-Ad	bronchial
47	chr12:122735200-122742800	Weak transcription	K562	blood
48	chr12:122735200-122748400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:122735400-122739000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:122735400-122740400	Weak transcription	Aorta	Aorta

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