Variant report

Variant	rs4938009
Chromosome Location	chr11:113230928-113230929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr11:113230707-113231004	HepG2	liver:	n/a	chr11:113230836-113230854
2	MAFK	chr11:113230699-113230955	HepG2	liver:	n/a	chr11:113230838-113230853
3	MAFF	chr11:113230761-113230983	K562	blood:	n/a	chr11:113230836-113230854
4	MAFK	chr11:113230688-113231024	HepG2	liver:	n/a	chr11:113230838-113230853

Variant related genes	Relation type
TTC12	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1055075	0.90[YRI][hapmap]
rs2234689	0.82[AFR][1000 genomes]
rs2734847	0.82[AFR][1000 genomes]
rs4938012	0.90[YRI][hapmap]
rs4938013	0.90[YRI][hapmap]
rs7130431	0.90[YRI][hapmap]
rs719804	0.90[YRI][hapmap]
rs7945132	0.90[YRI][hapmap]
rs877138	0.84[LWK][hapmap];0.90[YRI][hapmap]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4938009	NCAM1	cis	cerebellum	SCAN
rs4938009	TTC12	cis	Heart Left Ventricle	GTEx
rs4938009	SIK3	cis	cerebellum	SCAN
rs4938009	TTC12	cis	Thyroid	GTEx
rs4938009	TTC12	cis	lung	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113186800-113234200	Weak transcription	Fetal Thymus	thymus
2	chr11:113195600-113240600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:113203200-113248200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:113203800-113231800	Weak transcription	Small Intestine	intestine
5	chr11:113204000-113240600	Weak transcription	Stomach Mucosa	stomach
6	chr11:113208600-113239000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:113208800-113238200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:113210600-113243600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:113210800-113234600	Weak transcription	A549	lung
10	chr11:113210800-113235000	Weak transcription	Thymus	Thymus
11	chr11:113212400-113233000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:113213000-113243000	Weak transcription	NHLF	lung
13	chr11:113215200-113231400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:113215400-113243600	Weak transcription	Osteobl	bone
15	chr11:113218400-113233400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:113220400-113236200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:113220800-113233600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:113222600-113238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:113223800-113232000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:113225000-113233600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:113225400-113232600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:113226400-113233800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:113226600-113242400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr11:113227000-113238600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:113227000-113239400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr11:113227200-113231600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr11:113227200-113232000	Strong transcription	HMEC	breast
28	chr11:113227200-113235600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:113227200-113236400	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:113227400-113232000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:113227400-113233400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:113227400-113233800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr11:113227400-113233800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:113227400-113235600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:113227400-113236400	Weak transcription	Primary T cells from cord blood	blood
36	chr11:113227400-113236600	Strong transcription	Ovary	ovary
37	chr11:113227400-113239800	Strong transcription	Liver	Liver
38	chr11:113227400-113241200	Weak transcription	Psoas Muscle	Psoas
39	chr11:113227600-113235800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:113227600-113237200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr11:113227800-113231000	Strong transcription	Brain Hippocampus Middle	brain
42	chr11:113227800-113241000	Strong transcription	Adipose Nuclei	Adipose
43	chr11:113228000-113239400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:113228200-113231000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:113228200-113232200	Strong transcription	NHEK	skin
46	chr11:113228200-113232400	Strong transcription	Brain Anterior Caudate	brain
47	chr11:113228200-113237600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr11:113228200-113239600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr11:113228400-113231800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:113228400-113231800	Strong transcription	Brain Angular Gyrus	brain

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