Variant report

Variant	rs6670988
Chromosome Location	chr1:57629549-57629550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10789044	0.88[AMR][1000 genomes]
rs10789045	0.86[CHB][hapmap];0.88[AMR][1000 genomes]
rs10889026	0.86[CHB][hapmap];0.88[AMR][1000 genomes]
rs12034636	0.88[AMR][1000 genomes]
rs12120310	0.86[CHB][hapmap];0.88[AMR][1000 genomes]
rs12123599	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1413226	0.87[AMR][1000 genomes]
rs1504588	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1504589	0.88[AMR][1000 genomes]
rs17482565	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17541356	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17541479	0.82[CEU][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4912429	0.88[AMR][1000 genomes]
rs4912430	0.88[AMR][1000 genomes]
rs4912431	0.88[AMR][1000 genomes]
rs4912432	0.88[AMR][1000 genomes]
rs55944821	0.88[AMR][1000 genomes]
rs6680219	0.88[AMR][1000 genomes]
rs7548633	0.84[AMR][1000 genomes]
rs7552759	0.88[AMR][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57623200-57635400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57624000-57644800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:57627000-57629800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:57627600-57629600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:57627600-57629600	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:57627600-57629600	Enhancers	Brain Hippocampus Middle	brain
7	chr1:57627800-57629600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:57627800-57629600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:57628000-57629800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:57628000-57629800	Enhancers	Brain Anterior Caudate	brain
11	chr1:57628000-57632000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:57628000-57632000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:57628200-57631400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:57628600-57629600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:57628600-57629600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:57628600-57629800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:57628600-57629800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:57628600-57630400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:57628800-57629600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:57628800-57629600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:57629000-57629600	Enhancers	Right Ventricle	heart
22	chr1:57629000-57629800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:57629000-57629800	Enhancers	Lung	lung
24	chr1:57629000-57630000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:57629000-57630000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:57629000-57631200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:57629000-57632000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:57629200-57633200	Weak transcription	Pancreas	Pancrea
29	chr1:57629400-57631000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:57629400-57631200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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