Variant report

Variant	rs6674283
Chromosome Location	chr1:213126153-213126154
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10127459	0.80[EUR][1000 genomes]
rs17020046	0.95[EUR][1000 genomes]
rs58826561	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59252582	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6656706	0.97[EUR][1000 genomes]
rs6656738	0.89[EUR][1000 genomes]
rs6667192	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6680470	0.97[EUR][1000 genomes]
rs903802	0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213123600-213126200	Active TSS	Brain Anterior Caudate	brain
2	chr1:213124800-213127000	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
3	chr1:213125000-213126400	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
4	chr1:213125000-213126400	Transcr. at gene 5' and 3'	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:213125000-213127000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
6	chr1:213125000-213127200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
7	chr1:213125000-213127400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
8	chr1:213125200-213126200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:213125200-213126200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:213125200-213126800	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
11	chr1:213125200-213127200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
12	chr1:213125200-213127400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:213125200-213129400	Weak transcription	Thymus	Thymus
14	chr1:213125200-213132800	Weak transcription	Lung	lung
15	chr1:213125200-213134200	Weak transcription	Right Atrium	heart
16	chr1:213125400-213126200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:213125400-213126200	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr1:213125400-213126200	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr1:213125400-213126400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:213125400-213126600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
21	chr1:213125400-213127000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:213125400-213127200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
23	chr1:213125600-213126200	Enhancers	Fetal Stomach	stomach
24	chr1:213125600-213126200	Weak transcription	Fetal Thymus	thymus
25	chr1:213125600-213126400	Active TSS	HSMMtube	muscle
26	chr1:213125600-213126600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:213125600-213126600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:213125600-213126600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:213125600-213131000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:213125600-213131200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:213125600-213132600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:213125600-213141000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:213125800-213126400	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr1:213125800-213126600	Transcr. at gene 5' and 3'	HSMM	muscle
35	chr1:213125800-213141000	Weak transcription	A549	lung
36	chr1:213125800-213145800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:213126000-213126200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:213126000-213126200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr1:213126000-213126200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:213126000-213126200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:213126000-213126200	Enhancers	Fetal Lung	lung
42	chr1:213126000-213126200	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr1:213126000-213126200	Enhancers	Psoas Muscle	Psoas
44	chr1:213126000-213126200	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr1:213126000-213126200	Flanking Active TSS	GM12878-XiMat	blood
46	chr1:213126000-213126200	Bivalent Enhancer	NHDF-Ad	bronchial
47	chr1:213126000-213126400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:213126000-213126400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
49	chr1:213126000-213126600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:213126000-213126600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell

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