Variant report

Variant	rs6814158
Chromosome Location	chr4:126389627-126389628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10010000	0.87[AFR][1000 genomes]
rs10025821	0.87[AFR][1000 genomes]
rs11941296	0.87[AFR][1000 genomes]
rs12650153	0.87[AFR][1000 genomes]
rs1354709	1.00[AFR][1000 genomes]
rs1395243	0.87[AFR][1000 genomes]
rs2135428	0.87[AFR][1000 genomes]
rs2390840	0.87[AFR][1000 genomes]
rs2390841	0.86[AFR][1000 genomes]
rs4585321	0.87[AFR][1000 genomes]
rs4605670	0.87[AFR][1000 genomes]
rs4834030	0.87[AFR][1000 genomes]
rs4834041	0.87[AFR][1000 genomes]
rs4834043	0.87[AFR][1000 genomes]
rs6534484	1.00[AFR][1000 genomes]
rs6534485	0.87[AFR][1000 genomes]
rs6816596	0.87[AFR][1000 genomes]
rs6851098	0.87[AFR][1000 genomes]
rs7656135	0.87[AFR][1000 genomes]
rs7661747	0.86[AFR][1000 genomes]
rs7661810	0.87[AFR][1000 genomes]
rs7699122	0.87[AFR][1000 genomes]
rs958844	0.87[AFR][1000 genomes]
rs963397	0.87[AFR][1000 genomes]
rs988314	0.87[AFR][1000 genomes]
rs988863	0.87[AFR][1000 genomes]
rs9991326	0.87[AFR][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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126334600-126390400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr4:126335200-126400800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:126355000-126399600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:126356000-126391600	Weak transcription	HSMM	muscle
5	chr4:126356400-126414200	Weak transcription	Osteobl	bone
6	chr4:126367000-126401800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:126371000-126390600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:126372000-126402600	Weak transcription	Adipose Nuclei	Adipose
9	chr4:126372200-126390800	Weak transcription	Fetal Brain Female	brain
10	chr4:126372200-126411200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:126372600-126391200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:126373200-126389800	Weak transcription	Liver	Liver
13	chr4:126373400-126389800	Weak transcription	Ovary	ovary
14	chr4:126373600-126389800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:126373600-126389800	Weak transcription	Fetal Brain Male	brain
16	chr4:126373600-126390000	Weak transcription	HUVEC	blood vessel
17	chr4:126373600-126411000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:126373800-126390800	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:126373800-126400400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:126374200-126400000	Weak transcription	Fetal Stomach	stomach
21	chr4:126374800-126398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:126377400-126389800	Weak transcription	Fetal Kidney	kidney
23	chr4:126377400-126402600	Weak transcription	Fetal Intestine Large	intestine
24	chr4:126381000-126411200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:126382600-126402600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:126383400-126390800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:126383400-126412200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:126383600-126390800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:126384000-126413200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:126384200-126404200	Weak transcription	Colon Smooth Muscle	Colon
31	chr4:126384200-126411800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:126384400-126418000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:126386200-126392600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:126388400-126392600	Strong transcription	Fetal Lung	lung
35	chr4:126388400-126413800	Weak transcription	NHDF-Ad	bronchial
36	chr4:126388600-126411200	Weak transcription	Fetal Intestine Small	intestine
37	chr4:126388800-126411200	Weak transcription	Brain Hippocampus Middle	brain
38	chr4:126389000-126392200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr4:126389200-126413400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:126389400-126391600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:126389600-126390000	Strong transcription	Left Ventricle	heart
42	chr4:126389600-126390800	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr4:126389600-126391000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:126389600-126391600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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