Variant report

Variant	rs7949242
Chromosome Location	chr11:113235864-113235865
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	chr11:113234115..113236597-chr11:113236900..113239444,2	K562	blood:

Variant related genes	Relation type
ENSG00000270179	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10502173	0.91[EUR][1000 genomes]
rs1055076	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10891541	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10891542	0.90[ASN][1000 genomes]
rs10891545	0.87[ASN][1000 genomes]
rs1124492	0.80[ASN][1000 genomes]
rs12224538	0.85[ASN][1000 genomes]
rs12225351	0.92[EUR][1000 genomes]
rs12285457	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12292113	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12293753	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1943622	0.92[EUR][1000 genomes]
rs2187346	0.92[EUR][1000 genomes]
rs2276070	0.91[EUR][1000 genomes]
rs2288159	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28712705	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4590907	0.85[ASN][1000 genomes]
rs4938007	0.92[EUR][1000 genomes]
rs4938010	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4938011	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4938014	0.84[ASN][1000 genomes]
rs61492892	0.85[ASN][1000 genomes]
rs6589372	0.92[EUR][1000 genomes]
rs6589373	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7109196	0.93[EUR][1000 genomes]
rs713233	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs719803	0.90[EUR][1000 genomes]
rs7928201	0.92[EUR][1000 genomes]
rs7928978	0.92[EUR][1000 genomes]
rs7931066	0.92[EUR][1000 genomes]
rs948176	0.92[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	nsv556444	chr11:113234432-113383394	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7949242	TTC12	Cis_1M	lymphoblastoid	RTeQTL
rs7949242	TTC12	cis	multi-tissue	Pritchard

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113195600-113240600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:113203200-113248200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:113204000-113240600	Weak transcription	Stomach Mucosa	stomach
4	chr11:113208600-113239000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:113208800-113238200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:113210600-113243600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:113213000-113243000	Weak transcription	NHLF	lung
8	chr11:113215400-113243600	Weak transcription	Osteobl	bone
9	chr11:113220400-113236200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:113222600-113238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:113226600-113242400	Strong transcription	Stomach Smooth Muscle	stomach
12	chr11:113227000-113238600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:113227000-113239400	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr11:113227200-113236400	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:113227400-113236400	Weak transcription	Primary T cells from cord blood	blood
16	chr11:113227400-113236600	Strong transcription	Ovary	ovary
17	chr11:113227400-113239800	Strong transcription	Liver	Liver
18	chr11:113227400-113241200	Weak transcription	Psoas Muscle	Psoas
19	chr11:113227600-113237200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr11:113227800-113241000	Strong transcription	Adipose Nuclei	Adipose
21	chr11:113228000-113239400	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:113228200-113237600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr11:113228200-113239600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr11:113228400-113236400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:113228400-113238200	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:113228400-113239400	Strong transcription	Left Ventricle	heart
27	chr11:113228400-113239600	Strong transcription	Fetal Muscle Leg	muscle
28	chr11:113228400-113240200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr11:113228400-113240800	Strong transcription	Fetal Intestine Large	intestine
30	chr11:113228600-113239400	Strong transcription	Aorta	Aorta
31	chr11:113228600-113241600	Strong transcription	Fetal Intestine Small	intestine
32	chr11:113229000-113239400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:113229200-113240400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:113229200-113246800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:113229400-113237000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:113229400-113246600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:113229800-113243800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:113230200-113238400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:113230200-113239800	Weak transcription	Primary B cells from cord blood	blood
40	chr11:113230400-113236400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:113230400-113241000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:113230400-113243800	Weak transcription	HSMMtube	muscle
43	chr11:113230600-113246400	Weak transcription	Fetal Heart	heart
44	chr11:113231800-113246000	Weak transcription	Fetal Brain Male	brain
45	chr11:113232000-113236200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr11:113232000-113236200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr11:113232000-113243800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:113232200-113257400	Weak transcription	Small Intestine	intestine
49	chr11:113233200-113236800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:113233200-113237000	Strong transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links