Variant report

Variant	rs4585321
Chromosome Location	chr4:126374304-126374305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10010000	1.00[AFR][1000 genomes]
rs10021774	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10025691	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10025821	1.00[AFR][1000 genomes]
rs10031471	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10084893	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs11098811	0.87[AFR][1000 genomes]
rs11932005	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs11941296	1.00[AFR][1000 genomes]
rs12640965	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs12650153	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13132307	0.89[AFR][1000 genomes]
rs13144799	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs13144803	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1354709	0.87[AFR][1000 genomes]
rs1355159	1.00[YRI][hapmap];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]
rs1553714	1.00[YRI][hapmap]
rs1848579	0.87[AFR][1000 genomes]
rs1912041	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1912042	0.89[AFR][1000 genomes]
rs1983117	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2036723	0.89[AFR][1000 genomes]
rs2036724	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2135427	1.00[YRI][hapmap]
rs2135428	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2135429	0.87[AFR][1000 genomes]
rs2390835	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2390836	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2390837	0.87[AFR][1000 genomes]
rs2390839	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2390840	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2390841	1.00[YRI][hapmap]
rs2893131	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs4508902	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs4605670	1.00[AFR][1000 genomes]
rs4834030	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4834032	0.89[AFR][1000 genomes]
rs4834033	0.89[AFR][1000 genomes]
rs4834034	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs4834036	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs4834039	1.00[YRI][hapmap]
rs4834041	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4834043	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4834047	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs4996182	1.00[YRI][hapmap]
rs6534479	0.89[AFR][1000 genomes]
rs6534480	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs6534484	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs6534485	1.00[YRI][hapmap]
rs6814158	0.87[AFR][1000 genomes]
rs6816596	1.00[AFR][1000 genomes]
rs6833240	1.00[YRI][hapmap];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]
rs7667605	1.00[YRI][hapmap]
rs7668690	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7675556	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7683955	1.00[YRI][hapmap]
rs7699122	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs925241	0.89[AFR][1000 genomes]
rs958415	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs958844	1.00[AFR][1000 genomes]
rs958845	1.00[YRI][hapmap]
rs963397	1.00[AFR][1000 genomes]
rs988314	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs988315	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs988863	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs988933	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs9968423	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs9991326	1.00[YRI][hapmap];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:48 , 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	chr4:126342400-126375400	Weak transcription	Right Ventricle	heart
4	chr4:126347800-126382800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:126353600-126377000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:126355000-126399600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:126356000-126391600	Weak transcription	HSMM	muscle
8	chr4:126356400-126414200	Weak transcription	Osteobl	bone
9	chr4:126365600-126375400	Weak transcription	Spleen	Spleen
10	chr4:126367000-126401800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:126367600-126377200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:126368400-126377000	Weak transcription	Psoas Muscle	Psoas
13	chr4:126368800-126375600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:126369000-126378000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:126369000-126382800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:126370000-126375000	Weak transcription	NHLF	lung
17	chr4:126371000-126377600	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:126371000-126382400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:126371000-126390600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:126371400-126374800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:126372000-126374600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:126372000-126376800	Weak transcription	Fetal Kidney	kidney
23	chr4:126372000-126402600	Weak transcription	Adipose Nuclei	Adipose
24	chr4:126372200-126390800	Weak transcription	Fetal Brain Female	brain
25	chr4:126372200-126411200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:126372400-126375000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:126372600-126391200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:126373000-126376800	Weak transcription	Fetal Intestine Large	intestine
29	chr4:126373200-126389800	Weak transcription	Liver	Liver
30	chr4:126373400-126383000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:126373400-126389800	Weak transcription	Ovary	ovary
32	chr4:126373600-126375200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:126373600-126389600	Weak transcription	Left Ventricle	heart
34	chr4:126373600-126389800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:126373600-126389800	Weak transcription	Fetal Brain Male	brain
36	chr4:126373600-126390000	Weak transcription	HUVEC	blood vessel
37	chr4:126373600-126411000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:126373800-126376400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:126373800-126377000	Weak transcription	Lung	lung
40	chr4:126373800-126381200	Weak transcription	Aorta	Aorta
41	chr4:126373800-126382600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:126373800-126390800	Weak transcription	Fetal Muscle Leg	muscle
43	chr4:126373800-126400400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr4:126374000-126380600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:126374000-126389600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr4:126374200-126377000	Weak transcription	Fetal Lung	lung
47	chr4:126374200-126389000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr4:126374200-126400000	Weak transcription	Fetal Stomach	stomach

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