Variant report

Variant	rs6816596
Chromosome Location	chr4:126347504-126347505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10010000	1.00[AFR][1000 genomes]
rs10021774	0.87[AFR][1000 genomes]
rs10025691	0.87[AFR][1000 genomes]
rs10025821	1.00[AFR][1000 genomes]
rs10031471	0.87[AFR][1000 genomes]
rs10084893	0.87[AFR][1000 genomes]
rs11098811	0.87[AFR][1000 genomes]
rs11932005	0.89[AFR][1000 genomes]
rs11941296	1.00[AFR][1000 genomes]
rs12640965	0.87[AFR][1000 genomes]
rs12650153	1.00[AFR][1000 genomes]
rs13132307	0.89[AFR][1000 genomes]
rs13144799	0.89[AFR][1000 genomes]
rs13144803	0.89[AFR][1000 genomes]
rs1354709	0.87[AFR][1000 genomes]
rs1355159	0.87[AFR][1000 genomes]
rs1395234	0.89[AFR][1000 genomes]
rs1395243	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1396687	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1506356	0.89[AFR][1000 genomes]
rs1506362	0.87[AFR][1000 genomes]
rs1848579	0.87[AFR][1000 genomes]
rs1912041	0.89[AFR][1000 genomes]
rs1912042	0.89[AFR][1000 genomes]
rs1983117	0.87[AFR][1000 genomes]
rs2036723	0.89[AFR][1000 genomes]
rs2036724	0.87[AFR][1000 genomes]
rs2135428	1.00[AFR][1000 genomes]
rs2135429	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2390835	0.89[AFR][1000 genomes]
rs2390836	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2390837	0.87[AFR][1000 genomes]
rs2390839	0.87[AFR][1000 genomes]
rs2390840	1.00[AFR][1000 genomes]
rs2893131	0.87[AFR][1000 genomes]
rs4508902	0.89[AFR][1000 genomes]
rs4585321	1.00[AFR][1000 genomes]
rs4605670	1.00[AFR][1000 genomes]
rs4834030	1.00[AFR][1000 genomes]
rs4834032	0.89[AFR][1000 genomes]
rs4834033	0.89[AFR][1000 genomes]
rs4834034	0.89[AFR][1000 genomes]
rs4834036	0.89[AFR][1000 genomes]
rs4834041	1.00[AFR][1000 genomes]
rs4834043	1.00[AFR][1000 genomes]
rs4834047	0.87[AFR][1000 genomes]
rs6534479	0.89[AFR][1000 genomes]
rs6534480	0.87[AFR][1000 genomes]
rs6534484	0.87[AFR][1000 genomes]
rs6814158	0.87[AFR][1000 genomes]
rs6833240	0.89[AFR][1000 genomes]
rs6850220	1.00[YRI][hapmap]
rs6851018	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs6851098	1.00[AFR][1000 genomes]
rs7656135	1.00[AFR][1000 genomes]
rs7661810	1.00[AFR][1000 genomes]
rs7668690	0.87[AFR][1000 genomes]
rs7675556	0.89[AFR][1000 genomes]
rs7699122	1.00[AFR][1000 genomes]
rs925241	0.89[AFR][1000 genomes]
rs958415	0.89[AFR][1000 genomes]
rs958844	1.00[AFR][1000 genomes]
rs963397	1.00[AFR][1000 genomes]
rs988314	1.00[AFR][1000 genomes]
rs988315	0.87[AFR][1000 genomes]
rs988863	1.00[AFR][1000 genomes]
rs988933	0.89[AFR][1000 genomes]
rs9968423	0.87[AFR][1000 genomes]
rs9991326	1.00[AFR][1000 genomes]
rs9995153	0.87[AFR][1000 genomes]
rs9996895	1.00[YRI][hapmap];0.89[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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126312000-126354400	Weak transcription	HSMM	muscle
2	chr4:126316600-126354600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:126320200-126354400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:126334600-126390400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:126335200-126353200	Weak transcription	Psoas Muscle	Psoas
6	chr4:126335200-126400800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:126336800-126351000	Weak transcription	Fetal Brain Male	brain
8	chr4:126337000-126364400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:126337800-126356000	Weak transcription	Adipose Nuclei	Adipose
10	chr4:126337800-126356600	Weak transcription	Liver	Liver
11	chr4:126338400-126353200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:126338600-126371000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:126338800-126371400	Weak transcription	Fetal Intestine Large	intestine
14	chr4:126339000-126355400	Weak transcription	Left Ventricle	heart
15	chr4:126341200-126349200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:126342000-126353200	Weak transcription	Fetal Heart	heart
17	chr4:126342400-126375400	Weak transcription	Right Ventricle	heart
18	chr4:126342600-126371800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:126343000-126354200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:126343200-126354400	Weak transcription	HUVEC	blood vessel
21	chr4:126345000-126353200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:126345000-126353200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:126345000-126354200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:126345000-126355400	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:126345000-126355800	Weak transcription	Aorta	Aorta
26	chr4:126345000-126369600	Weak transcription	Ovary	ovary
27	chr4:126345000-126371400	Weak transcription	Fetal Stomach	stomach
28	chr4:126345000-126371800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:126345000-126373200	Weak transcription	Lung	lung
30	chr4:126345600-126355400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:126345600-126369400	Weak transcription	Fetal Kidney	kidney
32	chr4:126345600-126369600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:126345600-126369600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:126345800-126351000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:126345800-126352200	Weak transcription	Fetal Lung	lung
36	chr4:126345800-126355400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr4:126346200-126349400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:126347000-126347600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr4:126347000-126347800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr4:126347200-126353000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:126347400-126351000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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