Variant report

Variant	rs4650379
Chromosome Location	chr1:78621116-78621117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1570443	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1570444	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17098321	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs17101412	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101443	0.88[AFR][1000 genomes]
rs17101479	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101491	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17389676	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17390321	0.86[EUR][1000 genomes]
rs17392688	0.86[EUR][1000 genomes]
rs2351911	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4650453	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650514	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650584	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650585	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650588	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650609	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650624	0.86[EUR][1000 genomes]
rs7364565	0.86[EUR][1000 genomes]
rs7365402	0.86[EUR][1000 genomes]
rs7367149	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv1850497	chr1:78596312-78645701	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78584200-78630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr1:78609200-78624600	Weak transcription	Pancreas	Pancrea
3	chr1:78609200-78624800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:78611600-78631400	Weak transcription	Liver	Liver
5	chr1:78619200-78621200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:78619200-78622400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:78619600-78621200	Enhancers	Fetal Thymus	thymus
8	chr1:78619800-78622800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:78619800-78624400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:78619800-78624600	Weak transcription	Spleen	Spleen
11	chr1:78620200-78621400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:78620400-78621400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:78620400-78621400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:78620600-78621200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:78620600-78621200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr1:78620600-78621200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:78620600-78621200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:78620600-78621200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:78620600-78621200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:78620600-78621400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:78620600-78621400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:78620600-78624200	Weak transcription	Fetal Intestine Small	intestine
23	chr1:78620800-78621200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:78620800-78621200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:78620800-78621200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:78620800-78621200	Strong transcription	Fetal Intestine Large	intestine
27	chr1:78620800-78621200	Enhancers	Right Ventricle	heart
28	chr1:78620800-78621200	Enhancers	HSMMtube	muscle
29	chr1:78621000-78621200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:78621000-78621200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:78621000-78621200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:78621000-78621200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:78621000-78621400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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