Variant report

Variant	rs549168403
Chromosome Location	chr8:122330269-122330270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1017726	chr8:122307499-122339722	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1034220	chr8:122317048-122339722	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1028470	chr8:122317048-122350937	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1015918	chr8:122317724-122339722	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2761238	chr8:122318550-122339722	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv520756	chr8:122318550-122341946	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv18662	chr8:122318815-122339523	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv2421775	chr8:122320560-122341946	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3693007	chr8:122320560-122341946	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv465791	chr8:122320560-122341946	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv612130	chr8:122320560-122341946	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv442120	chr8:122321079-122339720	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1025365	chr8:122323246-122394774	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv515061	chr8:122326459-122339347	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv465792	chr8:122329373-122398867	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv612131	chr8:122329373-122398867	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122327200-122330400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:122328000-122330800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:122329600-122330800	Enhancers	Primary hematopoietic stem cells	blood
4	chr8:122329800-122330800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:122329800-122331000	Enhancers	Fetal Kidney	kidney
6	chr8:122329800-122332000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:122329800-122332200	Enhancers	HUVEC	blood vessel
8	chr8:122330200-122330800	Enhancers	HepG2	liver
9	chr8:122330200-122331000	Enhancers	NHEK	skin
10	chr8:122330200-122331000	Enhancers	Osteobl	bone
11	chr8:122330200-122331400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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