Variant report

Variant	rs1395232
Chromosome Location	chr4:126354575-126354576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10006602	1.00[EUR][1000 genomes]
rs10440345	1.00[CEU][hapmap]
rs10857105	1.00[EUR][1000 genomes]
rs11932005	1.00[EUR][1000 genomes]
rs13119663	1.00[EUR][1000 genomes]
rs13144799	1.00[EUR][1000 genomes]
rs13144803	1.00[EUR][1000 genomes]
rs1354711	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1354712	1.00[EUR][1000 genomes]
rs1395234	1.00[EUR][1000 genomes]
rs1395235	1.00[EUR][1000 genomes]
rs1395242	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1395243	1.00[YRI][hapmap]
rs1396687	1.00[EUR][1000 genomes]
rs1506356	1.00[EUR][1000 genomes]
rs1506358	1.00[EUR][1000 genomes]
rs1509293	1.00[EUR][1000 genomes]
rs1509294	1.00[EUR][1000 genomes]
rs1509295	1.00[EUR][1000 genomes]
rs1509296	1.00[EUR][1000 genomes]
rs1509297	1.00[EUR][1000 genomes]
rs1509298	1.00[EUR][1000 genomes]
rs1509301	1.00[EUR][1000 genomes]
rs1553713	1.00[EUR][1000 genomes]
rs1605825	1.00[EUR][1000 genomes]
rs1605826	1.00[EUR][1000 genomes]
rs1605827	1.00[EUR][1000 genomes]
rs1911107	1.00[EUR][1000 genomes]
rs1912041	1.00[EUR][1000 genomes]
rs1912042	1.00[EUR][1000 genomes]
rs1983118	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2036723	1.00[EUR][1000 genomes]
rs2390835	1.00[EUR][1000 genomes]
rs28566737	1.00[EUR][1000 genomes]
rs2893131	1.00[YRI][hapmap]
rs4508902	1.00[EUR][1000 genomes]
rs4834032	1.00[EUR][1000 genomes]
rs4834033	1.00[EUR][1000 genomes]
rs4834034	1.00[EUR][1000 genomes]
rs4834036	1.00[EUR][1000 genomes]
rs4834037	1.00[EUR][1000 genomes]
rs4834038	1.00[EUR][1000 genomes]
rs6534479	1.00[EUR][1000 genomes]
rs6833240	1.00[EUR][1000 genomes]
rs6851018	1.00[EUR][1000 genomes]
rs72914988	1.00[EUR][1000 genomes]
rs7656590	1.00[EUR][1000 genomes]
rs7660088	1.00[EUR][1000 genomes]
rs7660325	1.00[EUR][1000 genomes]
rs7667605	1.00[EUR][1000 genomes]
rs7675556	1.00[EUR][1000 genomes]
rs7678076	1.00[EUR][1000 genomes]
rs925241	1.00[EUR][1000 genomes]
rs958415	1.00[EUR][1000 genomes]
rs988933	1.00[EUR][1000 genomes]
rs9994836	1.00[EUR][1000 genomes]
rs9996895	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv470070	chr4:126299145-126408586	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126316600-126354600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:126334600-126390400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr4:126335200-126400800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:126337000-126364400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:126337800-126356000	Weak transcription	Adipose Nuclei	Adipose
6	chr4:126337800-126356600	Weak transcription	Liver	Liver
7	chr4:126338600-126371000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:126338800-126371400	Weak transcription	Fetal Intestine Large	intestine
9	chr4:126339000-126355400	Weak transcription	Left Ventricle	heart
10	chr4:126342400-126375400	Weak transcription	Right Ventricle	heart
11	chr4:126342600-126371800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:126345000-126355400	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:126345000-126355800	Weak transcription	Aorta	Aorta
14	chr4:126345000-126369600	Weak transcription	Ovary	ovary
15	chr4:126345000-126371400	Weak transcription	Fetal Stomach	stomach
16	chr4:126345000-126371800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:126345000-126373200	Weak transcription	Lung	lung
18	chr4:126345600-126355400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:126345600-126369400	Weak transcription	Fetal Kidney	kidney
20	chr4:126345600-126369600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:126345600-126369600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:126345800-126355400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr4:126347800-126382800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:126350600-126354600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:126351600-126356600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:126351600-126369400	Weak transcription	Fetal Brain Female	brain
27	chr4:126352200-126355800	Enhancers	Fetal Lung	lung
28	chr4:126353000-126355200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:126353200-126356000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:126353400-126354600	Weak transcription	NHLF	lung
31	chr4:126353400-126355600	Enhancers	NH-A	brain
32	chr4:126353400-126373000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:126353600-126355400	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:126353600-126367400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:126353600-126371400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:126353600-126377000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:126353800-126355400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:126354200-126355200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr4:126354200-126355400	Enhancers	Osteobl	bone
40	chr4:126354200-126355600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:126354200-126356000	Enhancers	NHDF-Ad	bronchial
42	chr4:126354400-126355200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:126354400-126355200	Enhancers	HUVEC	blood vessel
44	chr4:126354400-126355400	Enhancers	Fetal Heart	heart
45	chr4:126354400-126356000	Enhancers	HSMM	muscle
46	chr4:126354400-126356200	Enhancers	HSMMtube	muscle

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