Variant report

Variant	rs10149120
Chromosome Location	chr14:39596605-39596606
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	SRF	chr14:39596550-39596711	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GEMIN2	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10130972	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10133797	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10136536	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10151683	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12147991	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12437405	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12891258	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12894046	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13379360	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17108846	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2737721	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2737729	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2753606	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28379470	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28485301	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2869	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28856917	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34816815	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35035794	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3759545	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4143954	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902405	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902406	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902418	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902431	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902435	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902448	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs532	0.81[EUR][1000 genomes]
rs58851254	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67248626	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71407780	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7147194	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153124	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73289780	0.84[AFR][1000 genomes]
rs73289792	0.84[AFR][1000 genomes]
rs73289793	0.84[AFR][1000 genomes]
rs8006879	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8009933	0.81[ASN][1000 genomes]
rs9322994	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39583800-39626000	Weak transcription	Spleen	Spleen
2	chr14:39584000-39615000	Weak transcription	Pancreas	Pancrea
3	chr14:39584000-39623600	Weak transcription	Esophagus	oesophagus
4	chr14:39584200-39610800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
6	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:39584400-39617200	Weak transcription	Psoas Muscle	Psoas
8	chr14:39584400-39620800	Weak transcription	Colonic Mucosa	Colon
9	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
10	chr14:39584600-39597600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:39584600-39597800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:39584600-39597800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:39584600-39603600	Weak transcription	K562	blood
14	chr14:39584600-39604600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:39584600-39609600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:39584600-39625800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:39585200-39608200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:39585800-39608200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:39586000-39608000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:39586000-39608400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:39586000-39608600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:39586000-39608800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:39586200-39598600	Strong transcription	Dnd41	blood
24	chr14:39586600-39599800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:39586600-39610600	Strong transcription	HepG2	liver
26	chr14:39586800-39599400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr14:39587200-39609600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:39587400-39598600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr14:39587400-39608400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:39587600-39597000	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr14:39587600-39598600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr14:39587600-39607800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:39588000-39602000	Strong transcription	Fetal Muscle Leg	muscle
34	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
35	chr14:39589200-39604800	Weak transcription	HSMMtube	muscle
36	chr14:39589200-39609200	Weak transcription	Gastric	stomach
37	chr14:39589200-39610000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr14:39589200-39618000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:39589200-39626400	Weak transcription	Fetal Heart	heart
40	chr14:39589400-39597800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr14:39589600-39603000	Weak transcription	NHEK	skin
42	chr14:39590200-39597200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:39590400-39597000	Strong transcription	Thymus	Thymus
44	chr14:39591000-39597400	Weak transcription	Fetal Lung	lung
45	chr14:39591200-39603000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:39591800-39597800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr14:39591800-39597800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:39591800-39606600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr14:39592000-39599200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr14:39592400-39597800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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