Variant report

Variant	rs2463438
Chromosome Location	chr12:105150079-105150080
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	chr12:105148544..105150678-chr12:105152923..105154577,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1002803	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1038968	0.87[EUR][1000 genomes]
rs10507184	0.94[CEU][hapmap]
rs1070316	0.89[CEU][hapmap]
rs1155994	0.94[CEU][hapmap]
rs1389609	0.83[EUR][1000 genomes]
rs1389610	0.80[EUR][1000 genomes]
rs1389612	0.94[CEU][hapmap]
rs1474459	0.94[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs1565813	0.88[CEU][hapmap]
rs1565815	0.81[EUR][1000 genomes]
rs2047124	0.87[EUR][1000 genomes]
rs2131806	0.94[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2141248	0.83[EUR][1000 genomes]
rs2248012	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs2453154	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2453155	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2453156	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2453157	0.85[EUR][1000 genomes]
rs2453160	0.81[EUR][1000 genomes]
rs2453161	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs2453166	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs2453168	0.83[EUR][1000 genomes]
rs2463018	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs2463019	0.83[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2463429	0.83[EUR][1000 genomes]
rs2463431	0.86[EUR][1000 genomes]
rs2463437	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2463439	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2463440	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2463441	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs2463442	0.89[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2463443	0.90[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs2463444	0.90[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes]
rs2468083	0.83[EUR][1000 genomes]
rs2468089	0.94[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs2468099	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs2468100	0.81[EUR][1000 genomes]
rs2468105	0.94[CEU][hapmap]
rs2468109	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2468110	0.94[CEU][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2468112	0.82[EUR][1000 genomes]
rs2642109	0.83[EUR][1000 genomes]
rs2642110	0.84[EUR][1000 genomes]
rs2730291	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2730295	0.86[EUR][1000 genomes]
rs2731030	0.86[EUR][1000 genomes]
rs6539167	0.87[EUR][1000 genomes]
rs6539170	0.94[CEU][hapmap]
rs703681	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs7847	0.90[EUR][1000 genomes]
rs903247	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2463438	CHST11	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105130000-105150800	Weak transcription	A549	lung
2	chr12:105130200-105150200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:105133800-105151200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:105136600-105150600	Weak transcription	Gastric	stomach
5	chr12:105136800-105154400	Weak transcription	Right Ventricle	heart
6	chr12:105137000-105150800	Weak transcription	Aorta	Aorta
7	chr12:105137000-105152600	Weak transcription	Brain Angular Gyrus	brain
8	chr12:105137200-105150600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:105137200-105150600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:105137200-105154000	Weak transcription	Brain Substantia Nigra	brain
11	chr12:105137200-105157000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:105141600-105155400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:105142400-105150600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:105142400-105150800	Weak transcription	Brain Germinal Matrix	brain
15	chr12:105142400-105154600	Weak transcription	Fetal Brain Male	brain
16	chr12:105142400-105160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:105142600-105158000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:105142800-105150600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:105142800-105150600	Weak transcription	Fetal Stomach	stomach
20	chr12:105142800-105150800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:105142800-105154800	Weak transcription	Fetal Brain Female	brain
22	chr12:105142800-105158200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:105143000-105150600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:105143000-105150800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:105143600-105150600	Weak transcription	Lung	lung
26	chr12:105143600-105151000	Weak transcription	HSMMtube	muscle
27	chr12:105143600-105154200	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:105143800-105156800	Weak transcription	NHLF	lung
29	chr12:105143800-105160800	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:105144000-105150600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:105144000-105150800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:105144000-105151000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:105144000-105158200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:105144200-105150200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr12:105144200-105150800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:105144200-105150800	Weak transcription	NHEK	skin
37	chr12:105144200-105150800	Weak transcription	Osteobl	bone
38	chr12:105144200-105151000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:105144200-105152000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:105144200-105152600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:105144200-105154000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:105144200-105154000	Weak transcription	Left Ventricle	heart
43	chr12:105144200-105156800	Weak transcription	NHDF-Ad	bronchial
44	chr12:105144200-105157000	Weak transcription	NH-A	brain
45	chr12:105144200-105158000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:105145000-105150200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:105145000-105150800	Weak transcription	Placenta	Placenta
48	chr12:105145000-105151000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:105145000-105153000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:105145200-105152200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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