Variant report

Variant	rs6695959
Chromosome Location	chr1:224820337-224820338
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6661853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698799	0.89[ASN][1000 genomes]
rs7538145	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224812800-224825200	Weak transcription	HMEC	breast
2	chr1:224812800-224828200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:224814600-224823000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:224815600-224823200	Enhancers	Fetal Brain Male	brain
5	chr1:224816200-224822600	Enhancers	Fetal Brain Female	brain
6	chr1:224816400-224820400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:224816400-224820400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:224818400-224829400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:224818800-224822600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:224819000-224821200	Enhancers	Osteobl	bone
11	chr1:224819000-224821400	Enhancers	Ovary	ovary
12	chr1:224819000-224823400	Enhancers	NHDF-Ad	bronchial
13	chr1:224819200-224821000	Enhancers	NHLF	lung
14	chr1:224819200-224821200	Enhancers	Pancreas	Pancrea
15	chr1:224819400-224820800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:224819400-224820800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:224819400-224820800	Enhancers	HUVEC	blood vessel
18	chr1:224819400-224820800	Flanking Active TSS	NH-A	brain
19	chr1:224819400-224821400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:224819400-224824200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:224819600-224820400	Enhancers	Brain Hippocampus Middle	brain
22	chr1:224819600-224821000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:224819800-224820400	Enhancers	Right Atrium	heart
24	chr1:224819800-224820600	Enhancers	Fetal Lung	lung
25	chr1:224819800-224820800	Enhancers	HSMM	muscle
26	chr1:224819800-224821000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr1:224819800-224821400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:224819800-224821600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:224819800-224822600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:224820000-224820800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:224820000-224820800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:224820000-224820800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:224820000-224821000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:224820000-224824200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:224820200-224820600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:224820200-224820800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:224820200-224820800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:224820200-224820800	Enhancers	H9 Cell Line	embryonic stem cell
39	chr1:224820200-224820800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:224820200-224820800	Enhancers	Dnd41	blood
41	chr1:224820200-224821400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr1:224820200-224822400	Weak transcription	Gastric	stomach
43	chr1:224820200-224823200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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