Variant report

Variant	rs2463444
Chromosome Location	chr12:105144184-105144185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105130507..105133001-chr12:105142038..105144910,2	MCF-7	breast:
2	chr12:105143178..105144932-chr12:105145458..105148158,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1002803	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs10507184	0.84[CEU][hapmap]
rs1070316	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs1155994	0.84[CEU][hapmap]
rs1389609	0.80[EUR][1000 genomes]
rs1389612	0.84[CEU][hapmap]
rs1474459	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2131806	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2248012	0.84[CEU][hapmap]
rs2453154	0.89[CEU][hapmap]
rs2453155	0.89[CEU][hapmap]
rs2453156	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs2453157	0.81[EUR][1000 genomes]
rs2453161	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs2453166	0.84[CEU][hapmap]
rs2453168	0.80[EUR][1000 genomes]
rs2463018	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs2463019	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2463429	0.80[EUR][1000 genomes]
rs2463437	0.89[CEU][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs2463438	0.90[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes]
rs2463439	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs2463440	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs2463441	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs2463442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2463443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468083	0.80[EUR][1000 genomes]
rs2468089	0.84[CEU][hapmap]
rs2468099	0.84[CEU][hapmap]
rs2468105	0.84[CEU][hapmap]
rs2468109	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs2468110	0.94[CEU][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2642110	0.81[EUR][1000 genomes]
rs2730291	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs6539170	0.84[CEU][hapmap]
rs703681	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs7847	0.87[EUR][1000 genomes]
rs903247	0.89[CEU][hapmap]

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
rs2463444	CHST11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 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	chr12:105136600-105144800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:105136600-105150600	Weak transcription	Gastric	stomach
6	chr12:105136800-105154400	Weak transcription	Right Ventricle	heart
7	chr12:105137000-105150800	Weak transcription	Aorta	Aorta
8	chr12:105137000-105152600	Weak transcription	Brain Angular Gyrus	brain
9	chr12:105137200-105144800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:105137200-105150600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:105137200-105150600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:105137200-105154000	Weak transcription	Brain Substantia Nigra	brain
13	chr12:105137200-105157000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:105139000-105144800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:105139000-105147000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:105139600-105147200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:105139800-105144200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:105139800-105144400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:105139800-105144600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:105139800-105146000	Enhancers	Fetal Thymus	thymus
21	chr12:105140000-105144200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr12:105140000-105145200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:105140200-105145000	Enhancers	Placenta	Placenta
24	chr12:105140200-105146600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:105141000-105144200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr12:105141000-105145800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:105141000-105146200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:105141200-105145800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr12:105141600-105145000	Enhancers	Dnd41	blood
30	chr12:105141600-105155400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:105141800-105144200	Enhancers	NHEK	skin
32	chr12:105142000-105144200	Enhancers	NHDF-Ad	bronchial
33	chr12:105142000-105144400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:105142200-105144200	Enhancers	Left Ventricle	heart
35	chr12:105142200-105144200	Enhancers	NH-A	brain
36	chr12:105142400-105144200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:105142400-105144200	Enhancers	Osteobl	bone
38	chr12:105142400-105144800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:105142400-105150600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:105142400-105150800	Weak transcription	Brain Germinal Matrix	brain
41	chr12:105142400-105154600	Weak transcription	Fetal Brain Male	brain
42	chr12:105142400-105160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:105142600-105144200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:105142600-105144600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:105142600-105144800	Weak transcription	Brain Anterior Caudate	brain
46	chr12:105142600-105144800	Weak transcription	Spleen	Spleen
47	chr12:105142600-105144800	Enhancers	GM12878-XiMat	blood
48	chr12:105142600-105146200	Enhancers	Thymus	Thymus
49	chr12:105142600-105158000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:105142800-105144200	Enhancers	HSMM	muscle

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