Variant report

Variant	rs7841407
Chromosome Location	chr8:9243428-9243429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9243360..9245127-chr8:9412175..9414634,2	MCF-7	breast:
2	chr8:9239162..9240719-chr8:9243045..9245390,2	K562	blood:

Variant related genes	Relation type
ENSG00000173273	Chromatin interaction
ENSG00000272267	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 36 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10095404	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[EUR][1000 genomes]
rs10099831	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs17661680	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17661793	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs17718351	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap]
rs28497485	0.82[EUR][1000 genomes]
rs28550312	0.82[EUR][1000 genomes]
rs4604434	1.00[MEX][hapmap]
rs61743959	0.82[EUR][1000 genomes]
rs61745160	0.82[EUR][1000 genomes]
rs61746367	0.82[EUR][1000 genomes]
rs6994480	0.86[CHB][hapmap]
rs73185223	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1022967	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv539462	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv890341	chr8:9192927-9243428	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv2764086	chr8:9216584-9334601	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:36)

SNP	Gene	Cis/trans	Tissue	Source
rs7841407	BAMBI	trans	brain	seeQTL
rs7841407	KLF2	trans	brain	seeQTL
rs7841407	KCNMA1	trans	brain	seeQTL
rs7841407	MGP	trans	brain	seeQTL
rs7841407	BTG2	trans	brain	seeQTL
rs7841407	GAS1	trans	brain	seeQTL
rs7841407	OMD	trans	brain	seeQTL
rs7841407	FGL2	trans	brain	seeQTL
rs7841407	ANXA2	trans	brain	seeQTL
rs7841407	SLPI	trans	brain	seeQTL
rs7841407	NOV	trans	brain	seeQTL
rs7841407	GMDS	trans	brain	seeQTL
rs7841407	CYP1B1	trans	brain	seeQTL
rs7841407	SFRP2	trans	brain	seeQTL
rs7841407	CRABP1	trans	brain	seeQTL
rs7841407	SERPIND1	trans	brain	seeQTL
rs7841407	CYBRD1	trans	brain	seeQTL
rs7841407	OLFML2A	trans	brain	seeQTL
rs7841407	DCN	trans	brain	seeQTL
rs7841407	PTGDS	trans	brain	seeQTL
rs7841407	KLF4	trans	brain	seeQTL
rs7841407	TMEM30B	trans	brain	seeQTL
rs7841407	FRZB	trans	brain	seeQTL
rs7841407	GJB2	trans	brain	seeQTL
rs7841407	SLC13A4	trans	brain	seeQTL
rs7841407	SLC47A1	trans	brain	seeQTL
rs7841407	PRELP	trans	brain	seeQTL
rs7841407	OGN	trans	brain	seeQTL
rs7841407	CXCR7	trans	brain	seeQTL
rs7841407	KIAA1199	trans	brain	seeQTL
rs7841407	JAM2	trans	brain	seeQTL
rs7841407	TNFRSF11B	trans	brain	seeQTL
rs7841407	ENPP6	trans	brain	seeQTL
rs7841407	VIM	trans	brain	seeQTL
rs7841407	FMOD	trans	brain	seeQTL
rs7841407	DUSP1	trans	brain	seeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9226200-9244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:9237800-9244000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:9237800-9244000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:9238400-9247600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:9238600-9244000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:9240800-9244000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:9241200-9244000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:9241400-9244000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:9241400-9244400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:9241600-9244000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:9241600-9244400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:9242600-9244000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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