Variant report

Variant	rs2797793
Chromosome Location	chr6:37477262-37477263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37463837..37466464-chr6:37476098..37478071,3	K562	blood:
2	chr6:37477157..37479620-chr6:37505703..37507829,2	K562	blood:
3	chr6:37475829..37477406-chr6:37481172..37483865,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs12211110	0.85[JPT][hapmap]
rs2254710	0.82[ASN][1000 genomes]
rs2270687	0.85[JPT][hapmap]
rs4714068	0.85[JPT][hapmap]
rs883372	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1016310	chr6:37473075-37528469	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2797793	RNF8	cis	parietal	SCAN
rs2797793	C6orf129	cis	parietal	SCAN
rs2797793	RP1-153P14.8	cis	Whole Blood	GTEx
rs2797793	FTSJD2	cis	parietal	SCAN
rs2797793	RP1-153P14.5	cis	Whole Blood	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37468000-37483600	Enhancers	Fetal Thymus	thymus
2	chr6:37471200-37477800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:37471200-37483600	Weak transcription	Spleen	Spleen
4	chr6:37473800-37482200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:37474800-37477400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:37475800-37479400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:37476200-37477400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr6:37476200-37478600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:37476200-37483600	Enhancers	Thymus	Thymus
10	chr6:37476400-37477600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr6:37476400-37481200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:37476600-37477800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:37476600-37480400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:37476800-37478600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:37476800-37478800	Weak transcription	Primary T cells from cord blood	blood
16	chr6:37476800-37482200	Weak transcription	GM12878-XiMat	blood
17	chr6:37477000-37478800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:37477000-37478800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr6:37477000-37479000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr6:37477000-37480400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:37477200-37478800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr6:37477200-37479600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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