Variant report

Variant	rs12582683
Chromosome Location	chr12:50954191-50954192
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50942199..50944039-chr12:50952576..50955094,2	K562	blood:
2	chr12:50952708..50955042-chr12:50955077..50957639,2	K562	blood:
3	chr12:50952847..50954871-chr12:51013414..51015367,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10747583	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783375	0.89[ASN][1000 genomes]
rs10876045	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876055	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10876059	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876066	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876069	0.80[AFR][1000 genomes]
rs10876074	0.82[AMR][1000 genomes]
rs11169453	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169470	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11169484	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169486	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169490	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169492	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169506	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11169523	0.84[AMR][1000 genomes]
rs11169524	0.85[AMR][1000 genomes]
rs12307178	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12372538	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12425362	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12427378	0.85[AMR][1000 genomes]
rs12814717	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12818741	0.82[AMR][1000 genomes]
rs12825915	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1316607	0.82[AMR][1000 genomes]
rs13378012	0.81[AMR][1000 genomes]
rs1967576	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2090852	0.85[AMR][1000 genomes]
rs2139930	0.85[AMR][1000 genomes]
rs34553264	0.85[AMR][1000 genomes]
rs34682944	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3742062	0.81[AMR][1000 genomes]
rs3935138	0.91[ASN][1000 genomes]
rs3935870	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4617661	0.85[ASN][1000 genomes]
rs4768847	0.84[ASN][1000 genomes]
rs61699126	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6580756	0.84[ASN][1000 genomes]
rs67092086	0.88[ASN][1000 genomes]
rs7133160	0.82[AMR][1000 genomes]
rs7133687	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7137845	0.83[AMR][1000 genomes]
rs7298661	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7298665	0.82[AMR][1000 genomes]
rs7302435	0.82[AMR][1000 genomes]
rs7316864	0.91[ASN][1000 genomes]
rs7397999	0.91[ASN][1000 genomes]
rs7487429	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7965652	0.82[AMR][1000 genomes]
rs9788075	0.82[AMR][1000 genomes];0.82[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	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12582683	ATF1	cis	Artery Tibial	GTEx
rs12582683	CERS5	cis	Nerve Tibial	GTEx
rs12582683	DIP2B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50920800-50962400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:50927200-50957600	Weak transcription	Fetal Lung	lung
3	chr12:50927400-50961800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:50927600-50957200	Weak transcription	Spleen	Spleen
5	chr12:50927800-50961800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:50932000-50957800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:50932000-50958000	Weak transcription	Adipose Nuclei	Adipose
8	chr12:50932200-50961800	Weak transcription	Right Ventricle	heart
9	chr12:50936800-50962000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:50940000-50956400	Weak transcription	Psoas Muscle	Psoas
11	chr12:50940000-50961400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:50940400-50961800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:50940600-50955200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:50940800-50957000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:50940800-50962000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:50941000-50957400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:50941000-50961800	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:50941000-50962000	Weak transcription	Brain Germinal Matrix	brain
19	chr12:50941000-50963000	Weak transcription	HSMMtube	muscle
20	chr12:50941800-50957000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:50943800-50956200	Weak transcription	Colonic Mucosa	Colon
22	chr12:50944400-50962000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:50944600-50961800	Weak transcription	Small Intestine	intestine
24	chr12:50944800-50956200	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:50944800-50956600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr12:50944800-50961800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:50945200-50965200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:50945400-50961800	Weak transcription	Esophagus	oesophagus
29	chr12:50945600-50957000	Weak transcription	Lung	lung
30	chr12:50945600-50958800	Weak transcription	Ovary	ovary
31	chr12:50945800-50956800	Weak transcription	GM12878-XiMat	blood
32	chr12:50947200-50954200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:50947200-50961800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:50947400-50958800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:50947600-50957800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:50948400-50966000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:50948800-50961400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:50949400-50961800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:50949400-50962000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:50949400-50962000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:50949400-50973600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:50949600-50956000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:50949600-50958400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:50949800-50955200	Weak transcription	Stomach Mucosa	stomach
45	chr12:50949800-50955600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:50949800-50956600	Weak transcription	Brain Substantia Nigra	brain
47	chr12:50949800-50956800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:50949800-50957600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr12:50949800-50962000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:50949800-50962000	Weak transcription	Fetal Thymus	thymus

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