Variant report

Variant	rs6690547
Chromosome Location	chr1:224839269-224839270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224838583..224840769-chr1:224842090..224844375,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12239521	0.83[AFR][1000 genomes]
rs13374584	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1499284	1.00[AMR][1000 genomes]
rs16849419	1.00[AMR][1000 genomes]
rs16849547	1.00[AMR][1000 genomes]
rs16851979	0.87[AFR][1000 genomes]
rs56081029	1.00[AMR][1000 genomes]
rs6426149	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6426151	0.83[AFR][1000 genomes]
rs6661687	0.87[AFR][1000 genomes]
rs6676850	1.00[AMR][1000 genomes]
rs6679959	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692860	0.87[AFR][1000 genomes]
rs74146377	1.00[AMR][1000 genomes]
rs74146381	1.00[AMR][1000 genomes]
rs74146382	1.00[AMR][1000 genomes]
rs74146383	1.00[AMR][1000 genomes]
rs74146386	1.00[AMR][1000 genomes]
rs7513442	0.87[AFR][1000 genomes]
rs7545558	0.87[AFR][1000 genomes]
rs7554221	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9661938	1.00[AMR][1000 genomes]
rs9729870	0.83[AFR][1000 genomes];1.00[AMR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224820400-224840000	Weak transcription	Right Atrium	heart
2	chr1:224827000-224839800	Weak transcription	HSMM	muscle
3	chr1:224828800-224853400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:224832200-224839800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:224832800-224869000	Weak transcription	Dnd41	blood
7	chr1:224833200-224874400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:224833400-224840600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:224835600-224839800	Weak transcription	Pancreas	Pancrea
10	chr1:224836000-224840200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:224837600-224840000	Weak transcription	Spleen	Spleen
12	chr1:224837600-224840200	Enhancers	Fetal Brain Male	brain
13	chr1:224838200-224839800	Weak transcription	NH-A	brain
14	chr1:224838400-224839400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:224838400-224839400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:224838400-224853200	Weak transcription	Psoas Muscle	Psoas
17	chr1:224838600-224839800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:224838600-224839800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:224838600-224839800	Weak transcription	NHLF	lung
20	chr1:224838800-224839800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:224838800-224839800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:224838800-224839800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:224838800-224839800	Weak transcription	Ovary	ovary
24	chr1:224838800-224840200	Weak transcription	Fetal Lung	lung
25	chr1:224839000-224839600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:224839000-224839800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:224839000-224840800	Enhancers	HMEC	breast
28	chr1:224839000-224840800	Enhancers	NHDF-Ad	bronchial
29	chr1:224839200-224840800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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