Variant report

Variant	rs6685416
Chromosome Location	chr1:93020568-93020569
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6668660	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6683903	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6684552	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6698896	0.87[AFR][1000 genomes];1.00[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	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1004381	chr1:92968173-93064823	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830603	chr1:93003657-93172206	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92968200-93042800	Weak transcription	HSMM	muscle
2	chr1:92976400-93042400	Weak transcription	Fetal Stomach	stomach
3	chr1:92981800-93033400	Weak transcription	NHEK	skin
4	chr1:92983600-93066200	Weak transcription	Adipose Nuclei	Adipose
5	chr1:92994600-93066000	Weak transcription	Placenta	Placenta
6	chr1:93001400-93024200	Weak transcription	Psoas Muscle	Psoas
7	chr1:93004400-93022200	Weak transcription	Pancreas	Pancrea
8	chr1:93004400-93028400	Weak transcription	Primary B cells from cord blood	blood
9	chr1:93004400-93032400	Weak transcription	Fetal Intestine Small	intestine
10	chr1:93004400-93033000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:93004400-93042200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:93004400-93042400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:93004400-93070000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:93005000-93021600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:93007400-93021400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:93007800-93042600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:93009600-93023800	Weak transcription	Liver	Liver
18	chr1:93009800-93028200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:93009800-93029200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:93012000-93042800	Weak transcription	Left Ventricle	heart
21	chr1:93014400-93023200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:93014800-93053000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:93014800-93100200	Weak transcription	Right Ventricle	heart
24	chr1:93017000-93066000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:93017600-93026600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:93018600-93022800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:93018600-93054600	Weak transcription	Lung	lung
28	chr1:93020000-93029400	Weak transcription	Primary B cells from peripheral blood	blood

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