Variant report

Variant	rs2233863
Chromosome Location	chr1:153346526-153346527
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11488667	1.00[TSI][hapmap]
rs16835050	1.00[TSI][hapmap]
rs16835357	1.00[TSI][hapmap]
rs16835362	1.00[TSI][hapmap]
rs16835373	1.00[TSI][hapmap]
rs16835413	1.00[TSI][hapmap]
rs3006417	1.00[TSI][hapmap]
rs3006419	1.00[TSI][hapmap]
rs730347	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv947326	chr1:153340559-153352474	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2233863	S100A4	cis	lymphoblastoid	seeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153340000-153350400	Enhancers	Fetal Intestine Large	intestine
2	chr1:153340400-153349000	Weak transcription	Spleen	Spleen
3	chr1:153341400-153347800	Weak transcription	Placenta	Placenta
4	chr1:153343200-153347400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:153344400-153346600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:153344400-153346800	Enhancers	Fetal Intestine Small	intestine
7	chr1:153344400-153347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:153344600-153346600	Weak transcription	HMEC	breast
9	chr1:153344600-153347800	Weak transcription	NHEK	skin
10	chr1:153345800-153346800	Active TSS	Primary B cells from cord blood	blood
11	chr1:153345800-153351800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr1:153346200-153348200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr1:153346400-153346800	Weak transcription	Esophagus	oesophagus
14	chr1:153346400-153349200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr1:153346400-153349600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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