Variant report

Variant	rs12168605
Chromosome Location	chr22:31331439-31331440
allele	A/T
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	MAFK	chr22:31331424-31331508	HepG2	liver:	n/a	chr22:31331481-31331495 chr22:31331483-31331494 chr22:31331483-31331494

No.	Distal block	Cell Line	Cell type
1	chr22:31330005..31331646-chr22:31341515..31343222,2	K562	blood:
2	chr22:31331352..31334078-chr22:31477376..31479255,3	K562	blood:
3	chr22:31331352..31333181-chr22:31477542..31479255,2	K562	blood:

Variant related genes	Relation type
MORC2	TF binding region
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11089483	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11089485	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12166075	1.00[EUR][1000 genomes]
rs12166445	1.00[EUR][1000 genomes]
rs12166521	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12166797	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12167130	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12168997	1.00[EUR][1000 genomes]
rs12169136	1.00[EUR][1000 genomes]
rs12170790	1.00[EUR][1000 genomes]
rs13433649	1.00[EUR][1000 genomes]
rs16989109	1.00[EUR][1000 genomes]
rs16989230	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2232171	1.00[EUR][1000 genomes]
rs2232180	1.00[EUR][1000 genomes]
rs28428739	1.00[EUR][1000 genomes]
rs35239241	1.00[EUR][1000 genomes]
rs56686418	1.00[EUR][1000 genomes]
rs5994374	1.00[EUR][1000 genomes]
rs5997890	1.00[EUR][1000 genomes]
rs7284605	1.00[EUR][1000 genomes]
rs9619138	1.00[EUR][1000 genomes]
rs9619139	1.00[EUR][1000 genomes]
rs9619140	1.00[EUR][1000 genomes]
rs9619152	1.00[EUR][1000 genomes]
rs9619154	1.00[EUR][1000 genomes]
rs9621106	1.00[EUR][1000 genomes]
rs9621111	1.00[EUR][1000 genomes]
rs9621121	1.00[EUR][1000 genomes]
rs9621129	1.00[EUR][1000 genomes]
rs9621131	1.00[EUR][1000 genomes]
rs9621146	1.00[EUR][1000 genomes]
rs9621150	1.00[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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31317600-31364000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:31318400-31342200	Weak transcription	Right Atrium	heart
3	chr22:31319000-31333200	Strong transcription	Primary T cells from cord blood	blood
4	chr22:31319000-31343600	Strong transcription	Fetal Stomach	stomach
5	chr22:31319200-31338600	Strong transcription	Thymus	Thymus
6	chr22:31319200-31344000	Strong transcription	Fetal Intestine Small	intestine
7	chr22:31319200-31345200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:31319200-31347400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr22:31319200-31350800	Strong transcription	Brain Germinal Matrix	brain
10	chr22:31319200-31351800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:31319400-31336400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:31319400-31337600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr22:31319400-31342200	Strong transcription	Fetal Muscle Leg	muscle
14	chr22:31319600-31342000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:31319600-31342200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr22:31319600-31343200	Strong transcription	Placenta	Placenta
17	chr22:31319600-31345200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:31319800-31342200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:31319800-31343000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:31319800-31343200	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr22:31319800-31353200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr22:31319800-31355800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr22:31320000-31342000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr22:31320000-31342200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr22:31320000-31342400	Strong transcription	Brain Cingulate Gyrus	brain
26	chr22:31320000-31344000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:31320000-31354600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr22:31320000-31355600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr22:31320200-31336400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:31320200-31336800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr22:31320200-31340200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:31320200-31342200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr22:31320200-31343000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr22:31320200-31353400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr22:31320200-31354800	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr22:31320200-31355600	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr22:31320200-31355800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr22:31320400-31336800	Strong transcription	Lung	lung
39	chr22:31320400-31340600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr22:31320400-31342400	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr22:31320400-31345200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr22:31320600-31336600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr22:31320600-31336800	Strong transcription	Spleen	Spleen
44	chr22:31320600-31343600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr22:31320600-31347400	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr22:31320600-31347800	Strong transcription	Liver	Liver
47	chr22:31320600-31354400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr22:31320600-31354400	Strong transcription	HepG2	liver
49	chr22:31320800-31335200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr22:31320800-31336200	Strong transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links