Variant report

Variant	rs17416046
Chromosome Location	chr8:4399587-4399588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4091582..4092324-chr8:4399511..4400398,2	MCF-7	breast:
2	chr8:4091951..4092554-chr8:4399113..4400010,2	MCF-7	breast:
3	chr8:4138578..4139163-chr8:4399169..4399679,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17070487	1.00[ASW][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap];0.89[MEX][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17070620	0.92[CHB][hapmap]
rs17070623	0.84[CHB][hapmap]
rs17344058	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs17344155	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs17344378	0.92[CHB][hapmap];0.86[CHD][hapmap]
rs17416011	1.00[CEU][hapmap]
rs17416228	0.92[CHB][hapmap]
rs1949909	0.92[CHB][hapmap];0.91[CHD][hapmap]
rs1949910	0.92[CHB][hapmap]
rs1997138	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2406707	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap]
rs41470346	0.84[CHB][hapmap];0.86[CHD][hapmap]
rs6980912	0.84[CHB][hapmap]
rs6993844	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530531	chr8:3942575-4605088	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv889939	chr8:4033186-4718648	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv34054	chr8:4165205-4450873	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1024186	chr8:4305779-4446336	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1033900	chr8:4310667-4445860	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1030240	chr8:4310667-4446336	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv465378	chr8:4312402-4445944	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv609849	chr8:4312402-4445944	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv465379	chr8:4321350-4452129	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv609850	chr8:4321350-4452129	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1025967	chr8:4322234-4426539	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1021804	chr8:4324483-4420331	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv539390	chr8:4324483-4420331	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1016291	chr8:4324683-4420192	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv539392	chr8:4324683-4420192	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv889958	chr8:4349983-4414063	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv518795	chr8:4377712-4415071	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv527679	chr8:4377712-4415071	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv609852	chr8:4377712-4415071	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv609853	chr8:4377712-4415872	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv465381	chr8:4377712-4418410	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv609854	chr8:4377712-4418410	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv1033474	chr8:4380669-4412258	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv1030669	chr8:4380669-4416996	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv1021655	chr8:4381118-4414784	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv539393	chr8:4381118-4414784	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv1020592	chr8:4381318-4414645	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv539394	chr8:4381318-4414645	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv1028439	chr8:4381318-4420192	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv539395	chr8:4381318-4420192	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv609855	chr8:4388680-4415872	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv889960	chr8:4395685-4489552	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17416046	IKBKE	trans	cerebellum	SCAN
rs17416046	ARHGEF10	cis	parietal	SCAN
rs17416046	DEFA4	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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