Variant report

Variant	rs11942385
Chromosome Location	chr4:106960662-106960663
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10489129	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036506	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036511	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036530	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036535	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4264831	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4472215	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4552462	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62318075	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62318080	0.82[EUR][1000 genomes]
rs62318082	0.82[EUR][1000 genomes]
rs62318087	0.84[EUR][1000 genomes]
rs62318088	0.84[EUR][1000 genomes]
rs62318089	0.82[EUR][1000 genomes]
rs62318090	0.81[EUR][1000 genomes]
rs62320069	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320070	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320112	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320113	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320116	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320117	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320120	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62320124	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62320128	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62320129	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62321362	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62321363	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62321364	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62321366	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62321372	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62321373	0.90[EUR][1000 genomes]
rs62321374	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62321375	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62321376	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62321377	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62321378	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62321380	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67566720	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6853347	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72675686	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72675692	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72675702	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72677343	0.80[AMR][1000 genomes]
rs72677353	0.80[AMR][1000 genomes];0.86[EUR][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	nsv1014993	chr4:106796019-106980727	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv522792	chr4:106895964-106982793	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106955000-106969600	Weak transcription	NHLF	lung
2	chr4:106955200-106966600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:106956000-106961400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:106956000-106969800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:106956200-106960800	Weak transcription	NHDF-Ad	bronchial
6	chr4:106956200-106967200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:106956200-106967400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:106956200-106968200	Weak transcription	Fetal Stomach	stomach
9	chr4:106956200-106969600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:106956200-106970000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:106956400-106966600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:106956600-106961600	Weak transcription	Psoas Muscle	Psoas
13	chr4:106956600-106969200	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:106956800-106970800	Weak transcription	HSMMtube	muscle
15	chr4:106958000-106966600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:106958400-106969200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:106958400-106969400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:106959200-106969000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:106959200-106969800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:106959600-106969200	Weak transcription	Pancreas	Pancrea
21	chr4:106959600-106969600	Weak transcription	Fetal Kidney	kidney
22	chr4:106959600-106983400	Weak transcription	HepG2	liver
23	chr4:106960600-106961200	Enhancers	Fetal Lung	lung
24	chr4:106960600-106965000	Enhancers	Fetal Heart	heart
25	chr4:106960600-106969400	Weak transcription	Fetal Muscle Trunk	muscle

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