Variant report

Variant	rs4834030
Chromosome Location	chr4:126331113-126331114
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

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]
rs1354711	0.82[YRI][hapmap]
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]
rs1509288	0.83[YRI][hapmap]
rs1553714	1.00[YRI][hapmap]
rs1848579	0.87[AFR][1000 genomes]
rs1912041	0.83[YRI][hapmap];0.89[AFR][1000 genomes]
rs1912042	0.89[AFR][1000 genomes]
rs1983117	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1983118	0.83[YRI][hapmap]
rs2036723	0.89[AFR][1000 genomes]
rs2036724	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2055768	0.83[YRI][hapmap]
rs2135427	1.00[YRI][hapmap]
rs2135428	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2135429	1.00[YRI][hapmap];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]
rs2710577	0.83[YRI][hapmap]
rs2893131	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs4508902	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs4585321	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4605670	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]
rs906794	0.83[YRI][hapmap]
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	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126308400-126336000	Weak transcription	Left Ventricle	heart
2	chr4:126310800-126336000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:126311600-126336000	Weak transcription	Aorta	Aorta
4	chr4:126311800-126341800	Weak transcription	Fetal Heart	heart
5	chr4:126311800-126343600	Weak transcription	Fetal Stomach	stomach
6	chr4:126312000-126338200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:126312000-126354400	Weak transcription	HSMM	muscle
8	chr4:126312200-126342800	Weak transcription	NHLF	lung
9	chr4:126316600-126354600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:126316800-126336200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:126318000-126336200	Weak transcription	Fetal Brain Male	brain
12	chr4:126319000-126338000	Weak transcription	Fetal Brain Female	brain
13	chr4:126319000-126343800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:126319800-126336200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:126320000-126332000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:126320000-126343400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:126320200-126336400	Weak transcription	Adipose Nuclei	Adipose
18	chr4:126320200-126354400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:126320600-126344400	Weak transcription	Lung	lung
20	chr4:126323600-126335800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:126323600-126336600	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:126324800-126344400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:126325800-126336000	Weak transcription	Ovary	ovary
24	chr4:126326400-126340800	Weak transcription	Gastric	stomach
25	chr4:126327000-126341800	Weak transcription	Right Ventricle	heart
26	chr4:126327200-126337600	Weak transcription	Fetal Intestine Large	intestine
27	chr4:126327600-126336200	Weak transcription	Liver	Liver
28	chr4:126328000-126336400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:126328400-126336000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:126328600-126331400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:126329000-126344000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:126329600-126344400	Weak transcription	Fetal Intestine Small	intestine
33	chr4:126329800-126331400	Weak transcription	HUVEC	blood vessel
34	chr4:126329800-126341400	Weak transcription	NHDF-Ad	bronchial
35	chr4:126330200-126331200	Weak transcription	Fetal Lung	lung
36	chr4:126330800-126331600	Strong transcription	Fetal Kidney	kidney

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