Variant report

Variant	rs2131806
Chromosome Location	chr12:105148250-105148251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105141843..105143930-chr12:105147276..105148926,2	MCF-7	breast:
2	chr12:105146747..105148409-chr12:105161769..105164567,2	K562	blood:
3	chr12:105101710..105104626-chr12:105147827..105149520,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1002803	0.94[CEU][hapmap];0.87[GIH][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs1038968	0.81[EUR][1000 genomes]
rs10507184	0.89[CEU][hapmap];0.84[GIH][hapmap]
rs1070316	0.83[CEU][hapmap]
rs10778358	0.80[GIH][hapmap]
rs1155994	0.89[CEU][hapmap]
rs1389610	0.84[EUR][1000 genomes]
rs1389611	0.81[EUR][1000 genomes]
rs1389612	0.89[CEU][hapmap]
rs1474459	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1565813	0.83[CEU][hapmap];0.86[GIH][hapmap]
rs2004806	0.81[EUR][1000 genomes]
rs2047124	0.81[EUR][1000 genomes]
rs2088019	0.81[EUR][1000 genomes]
rs2245929	0.82[EUR][1000 genomes]
rs2248012	0.89[CEU][hapmap];0.84[GIH][hapmap]
rs2453154	0.94[CEU][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs2453155	0.94[CEU][hapmap];0.85[GIH][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs2453156	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs2453161	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs2453166	0.89[CEU][hapmap];0.84[GIH][hapmap]
rs2463018	0.89[CEU][hapmap];0.87[GIH][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs2463019	0.82[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2463020	0.82[EUR][1000 genomes]
rs2463431	0.80[EUR][1000 genomes]
rs2463434	0.82[EUR][1000 genomes]
rs2463435	0.81[EUR][1000 genomes]
rs2463437	0.94[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2463438	0.94[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2463439	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2463440	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs2463441	0.89[CEU][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs2463442	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2463443	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2463444	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2468082	0.82[EUR][1000 genomes]
rs2468089	0.89[CEU][hapmap];0.93[GIH][hapmap]
rs2468099	0.89[CEU][hapmap]
rs2468105	0.89[CEU][hapmap]
rs2468109	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2468110	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2468112	0.85[EUR][1000 genomes]
rs2642109	0.86[EUR][1000 genomes]
rs2730291	0.94[CEU][hapmap];0.87[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs2730295	0.81[EUR][1000 genomes]
rs2731030	0.81[EUR][1000 genomes]
rs4393404	0.80[GIH][hapmap]
rs6539167	0.81[EUR][1000 genomes]
rs6539170	0.89[CEU][hapmap]
rs703681	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs7135015	0.80[GIH][hapmap]
rs7847	0.85[EUR][1000 genomes]
rs903247	0.94[CEU][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.85[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
rs2131806	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	chr12:105136600-105150600	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	chr12:105142800-105149000	Weak transcription	Right Atrium	heart
19	chr12:105142800-105149800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:105142800-105150600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:105142800-105150600	Weak transcription	Fetal Stomach	stomach
22	chr12:105142800-105150800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:105142800-105154800	Weak transcription	Fetal Brain Female	brain
24	chr12:105142800-105158200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:105143000-105150600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:105143000-105150800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:105143200-105150000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:105143200-105150000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:105143600-105150600	Weak transcription	Lung	lung
30	chr12:105143600-105151000	Weak transcription	HSMMtube	muscle
31	chr12:105143600-105154200	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:105143800-105156800	Weak transcription	NHLF	lung
33	chr12:105143800-105160800	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:105144000-105150000	Weak transcription	K562	blood
35	chr12:105144000-105150600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:105144000-105150800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:105144000-105151000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:105144000-105158200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:105144200-105150200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:105144200-105150800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:105144200-105150800	Weak transcription	NHEK	skin
42	chr12:105144200-105150800	Weak transcription	Osteobl	bone
43	chr12:105144200-105151000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:105144200-105152000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:105144200-105152600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:105144200-105154000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:105144200-105154000	Weak transcription	Left Ventricle	heart
48	chr12:105144200-105156800	Weak transcription	NHDF-Ad	bronchial
49	chr12:105144200-105157000	Weak transcription	NH-A	brain
50	chr12:105144200-105158000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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