Variant report

Variant	rs558529744
Chromosome Location	chr1:160748919-160748920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv428532	chr1:160671125-160767708	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv947134	chr1:160742631-160749214	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv464161	chr1:160747615-160852046	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv548057	chr1:160747615-160852046	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160745200-160750200	Weak transcription	NHEK	skin
2	chr1:160745200-160750400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:160745200-160751200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:160745400-160750200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:160745400-160750800	Weak transcription	HMEC	breast
6	chr1:160745400-160764800	Weak transcription	Primary T cells from cord blood	blood
7	chr1:160746400-160751000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:160747000-160751400	Weak transcription	Primary B cells from cord blood	blood
9	chr1:160747800-160750200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:160747800-160750800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:160747800-160750800	Weak transcription	Fetal Thymus	thymus
12	chr1:160747800-160751000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:160747800-160751400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:160748000-160750200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:160748400-160750800	Weak transcription	Esophagus	oesophagus
16	chr1:160748600-160749600	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:160748600-160751600	Enhancers	GM12878-XiMat	blood
18	chr1:160748800-160750800	Weak transcription	Lung	lung
19	chr1:160748800-160753400	Enhancers	Primary B cells from peripheral blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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