Variant report

Variant	rs7804983
Chromosome Location	chr7:26744013-26744014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs513387	1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv5672	chr7:26711462-26757891	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7804983	SKAP2	cis	Whole Blood	GTEx
rs7804983	HOXA10	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26705000-26759600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:26729000-26756400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:26729200-26747000	Weak transcription	Primary B cells from cord blood	blood
4	chr7:26729200-26747000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:26729600-26750000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:26730000-26747000	Weak transcription	Fetal Kidney	kidney
7	chr7:26731800-26779200	Weak transcription	Spleen	Spleen
8	chr7:26732200-26744600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:26732200-26765000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:26737000-26744400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:26737000-26745200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:26740400-26782400	Weak transcription	Fetal Intestine Small	intestine
13	chr7:26740600-26745400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr7:26741000-26744200	Weak transcription	A549	lung
15	chr7:26741000-26745200	Weak transcription	HepG2	liver
16	chr7:26742800-26750800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:26743000-26745000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:26743400-26745400	Enhancers	Adipose Nuclei	Adipose
19	chr7:26743600-26744800	Enhancers	Fetal Stomach	stomach
20	chr7:26743800-26744200	Enhancers	Fetal Muscle Leg	muscle
21	chr7:26743800-26744600	Enhancers	Osteobl	bone
22	chr7:26743800-26744800	Enhancers	Ovary	ovary
23	chr7:26743800-26745200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:26743800-26745600	Enhancers	Colon Smooth Muscle	Colon
25	chr7:26743800-26745600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr7:26743800-26746400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:26743800-26746400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:26743800-26747800	Enhancers	NHDF-Ad	bronchial
29	chr7:26743800-26747800	Enhancers	NHLF	lung
30	chr7:26744000-26745200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:26744000-26745200	Enhancers	Fetal Lung	lung
32	chr7:26744000-26746000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:26744000-26746200	Enhancers	Stomach Smooth Muscle	stomach

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