Variant report

Variant	rs706778
Chromosome Location	chr10:6098949-6098950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:6092360..6095172-chr10:6096702..6099440,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10795791	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3118470	0.95[JPT][hapmap]
rs7072793	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7073236	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7096384	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv894814	chr10:6078032-6100725	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Rheumatoid arthritis	20453842	GWAS catalog
Rheumatoid arthritis	24390342	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs706778	ITIH2	cis	parietal	SCAN
rs706778	PFKP	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6093400-6101000	Weak transcription	Psoas Muscle	Psoas
2	chr10:6093400-6102800	Enhancers	Primary B cells from peripheral blood	blood
3	chr10:6093800-6104200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr10:6096200-6102000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr10:6096200-6107400	Weak transcription	Placenta	Placenta
6	chr10:6096400-6100200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr10:6096400-6100400	Weak transcription	Primary T cells from cord blood	blood
8	chr10:6096400-6102800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr10:6096400-6103800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:6096600-6100600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr10:6096600-6103600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr10:6096800-6099600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr10:6097200-6100200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:6097200-6102200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:6097800-6099400	Enhancers	GM12878-XiMat	blood
16	chr10:6097800-6102200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
17	chr10:6098000-6104400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
18	chr10:6098200-6102000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr10:6098400-6100000	Enhancers	Left Ventricle	heart
20	chr10:6098400-6100200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr10:6098400-6102000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr10:6098600-6099000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:6098600-6099000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr10:6098600-6099000	Enhancers	Small Intestine	intestine
25	chr10:6098600-6099200	Enhancers	Primary B cells from cord blood	blood
26	chr10:6098600-6100000	Enhancers	Adipose Nuclei	Adipose
27	chr10:6098600-6100200	Weak transcription	Right Atrium	heart
28	chr10:6098800-6099000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr10:6098800-6099000	Enhancers	Spleen	Spleen
30	chr10:6098800-6099200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr10:6098800-6099200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr10:6098800-6099400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:6098800-6099800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr10:6098800-6099800	Enhancers	Lung	lung

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