Variant report

Variant	rs1070316
Chromosome Location	chr12:105138472-105138473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1002803	0.88[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs10507184	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs1155994	0.83[CEU][hapmap]
rs1389612	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs1474459	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs1565813	0.86[JPT][hapmap]
rs2131806	0.83[CEU][hapmap]
rs2248012	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs2453154	0.88[CEU][hapmap]
rs2453155	0.88[CEU][hapmap]
rs2453156	0.89[CEU][hapmap];0.87[JPT][hapmap]
rs2453161	0.94[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2453166	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs2463018	0.83[CEU][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes]
rs2463019	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2463437	0.88[CEU][hapmap]
rs2463438	0.89[CEU][hapmap]
rs2463439	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs2463440	0.88[CEU][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes]
rs2463441	0.94[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2463442	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2463443	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs2463444	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs2468089	0.82[CEU][hapmap]
rs2468092	0.81[JPT][hapmap]
rs2468099	0.83[CEU][hapmap]
rs2468105	0.83[CEU][hapmap];0.86[JPT][hapmap]
rs2468109	0.94[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2468110	0.83[CEU][hapmap]
rs2730291	0.88[CEU][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes]
rs6539170	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs703681	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7847	0.84[EUR][1000 genomes]
rs903247	0.88[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
rs1070316	CHST11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105128000-105141200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:105129000-105139200	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:105130000-105150800	Weak transcription	A549	lung
4	chr12:105130200-105150200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:105132200-105141200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:105132600-105141400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:105132800-105141400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:105132800-105141400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:105133000-105142200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:105133400-105141800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:105133800-105151200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:105134400-105141000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:105135000-105140000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:105135000-105140000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:105135000-105140200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:105135000-105140200	Weak transcription	Colonic Mucosa	Colon
17	chr12:105135200-105139000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:105135200-105139800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:105135200-105139800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:105135400-105140000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:105135600-105143800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:105135800-105139800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:105135800-105139800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:105136000-105140000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:105136200-105140000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:105136600-105141400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:105136600-105142000	Weak transcription	Right Atrium	heart
28	chr12:105136600-105144800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:105136600-105150600	Weak transcription	Gastric	stomach
30	chr12:105136800-105140600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:105136800-105141600	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:105136800-105142200	Weak transcription	Lung	lung
33	chr12:105136800-105154400	Weak transcription	Right Ventricle	heart
34	chr12:105137000-105141400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:105137000-105141400	Weak transcription	Fetal Heart	heart
36	chr12:105137000-105141800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:105137000-105142200	Weak transcription	Left Ventricle	heart
38	chr12:105137000-105142400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:105137000-105143400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:105137000-105150800	Weak transcription	Aorta	Aorta
41	chr12:105137000-105152600	Weak transcription	Brain Angular Gyrus	brain
42	chr12:105137200-105139600	Weak transcription	Dnd41	blood
43	chr12:105137200-105139600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:105137200-105139800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:105137200-105139800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:105137200-105139800	Weak transcription	Thymus	Thymus
47	chr12:105137200-105140200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:105137200-105140200	Weak transcription	Placenta	Placenta
49	chr12:105137200-105140400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:105137200-105140400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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