Variant report

Variant	rs6603991
Chromosome Location	chr1:93032583-93032584
allele	C/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:3)

rs_ID	r²[population]
rs10465753	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10874714	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2027061	0.81[EUR][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:34 , 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	chr1:93004400-93033000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:93004400-93042200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:93004400-93042400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:93004400-93070000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:93007800-93042600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:93012000-93042800	Weak transcription	Left Ventricle	heart
12	chr1:93014800-93053000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:93014800-93100200	Weak transcription	Right Ventricle	heart
14	chr1:93017000-93066000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:93018600-93054600	Weak transcription	Lung	lung
16	chr1:93022000-93042400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:93024200-93056000	Weak transcription	Fetal Heart	heart
18	chr1:93026000-93033600	Weak transcription	Liver	Liver
19	chr1:93026000-93091800	Weak transcription	Hela-S3	cervix
20	chr1:93027000-93043400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:93027400-93066000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:93027800-93042400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:93027800-93042600	Weak transcription	NH-A	brain
24	chr1:93029200-93033000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:93029200-93039600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:93029200-93042400	Weak transcription	HUVEC	blood vessel
27	chr1:93029400-93046000	Weak transcription	Primary B cells from cord blood	blood
28	chr1:93029600-93036800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:93029800-93042400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:93030000-93054600	Weak transcription	Aorta	Aorta
31	chr1:93030000-93082200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:93031000-93042600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:93032000-93054400	Weak transcription	Fetal Lung	lung
34	chr1:93032400-93033000	Strong transcription	Fetal Intestine Small	intestine

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