Variant report

Variant	rs8129957
Chromosome Location	chr21:18373340-18373341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	esv2751924	chr21:18169497-18541529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv913427	chr21:18295194-18373340	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv834053	chr21:18369514-18500929	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv587081	chr21:18370713-18402124	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv913428	chr21:18373340-18425733	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8129957	SH2D4B	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:18370200-18375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:18371400-18375400	Weak transcription	Ovary	ovary
3	chr21:18372400-18375200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:18372600-18374000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr21:18372600-18374600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr21:18372800-18374200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr21:18372800-18374200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr21:18373000-18377000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr21:18373200-18373400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr21:18373200-18374200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr21:18373200-18376600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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Input of quick search could be:

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

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