Variant report

Variant	rs17406913
Chromosome Location	chr8:19254816-19254817
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19245003..19248464-chr8:19252162..19256737,5	MCF-7	breast:
2	chr8:19253781..19256725-chr8:19257915..19261279,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11997360	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12335103	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13248137	1.00[CHB][hapmap]
rs13259019	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13281971	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128707	1.00[CHB][hapmap]
rs17387732	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17406794	0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs17408029	1.00[CHB][hapmap]
rs17478671	1.00[CHB][hapmap];0.86[YRI][hapmap];1.00[ASN][1000 genomes]
rs17480419	1.00[CHB][hapmap]
rs28563982	1.00[ASN][1000 genomes]
rs35312266	1.00[ASN][1000 genomes]
rs4922023	1.00[ASN][1000 genomes]
rs4922065	1.00[CHD][hapmap]
rs6586842	1.00[CHD][hapmap]
rs6992213	1.00[CHB][hapmap]
rs71510649	1.00[ASN][1000 genomes]
rs7357426	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7840615	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026466	chr8:18433493-19271274	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539520	chr8:18433493-19271274	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv890610	chr8:18749120-19260599	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv890614	chr8:18838764-19274793	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv1033229	chr8:19081684-19271274	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
13	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv890622	chr8:19224772-19275354	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
16	nsv610751	chr8:19226335-19284889	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
17	esv3693374	chr8:19241970-19359184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
18	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
19	nsv610752	chr8:19254816-19311496	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17406913	FLJ14107	cis	cerebellum	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19214400-19266200	Weak transcription	Aorta	Aorta
2	chr8:19233400-19266200	Weak transcription	Brain Anterior Caudate	brain
3	chr8:19238400-19263200	Weak transcription	Right Ventricle	heart
4	chr8:19241200-19265800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:19243800-19257400	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:19243800-19263200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:19244000-19256400	Weak transcription	Thymus	Thymus
8	chr8:19244200-19255400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:19244200-19256400	Weak transcription	Brain Germinal Matrix	brain
10	chr8:19244200-19265800	Weak transcription	Brain Angular Gyrus	brain
11	chr8:19244400-19255400	Strong transcription	Hela-S3	cervix
12	chr8:19244400-19266200	Strong transcription	Placenta	Placenta
13	chr8:19245000-19256000	Strong transcription	Fetal Stomach	stomach
14	chr8:19245800-19255600	Strong transcription	Fetal Intestine Small	intestine
15	chr8:19246000-19261400	Weak transcription	Brain Substantia Nigra	brain
16	chr8:19246200-19265800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:19247600-19257000	Weak transcription	Stomach Mucosa	stomach
18	chr8:19247600-19266000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr8:19248400-19255000	Weak transcription	Small Intestine	intestine
20	chr8:19248800-19255200	Strong transcription	Adipose Nuclei	Adipose
21	chr8:19248800-19255400	Strong transcription	A549	lung
22	chr8:19248800-19259400	Strong transcription	Liver	Liver
23	chr8:19249200-19255800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:19250600-19255200	Strong transcription	NHLF	lung
25	chr8:19250600-19255600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr8:19250600-19255600	Strong transcription	Lung	lung
27	chr8:19250600-19256000	Strong transcription	NHDF-Ad	bronchial
28	chr8:19250800-19255200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:19250800-19255200	Strong transcription	Pancreas	Pancrea
30	chr8:19251000-19255000	Weak transcription	HSMMtube	muscle
31	chr8:19251200-19256000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr8:19251400-19255200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr8:19251400-19256600	Weak transcription	HMEC	breast
34	chr8:19251600-19255200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:19251600-19255200	Strong transcription	Esophagus	oesophagus
36	chr8:19251800-19257600	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:19252000-19257400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr8:19252000-19263200	Weak transcription	Spleen	Spleen
39	chr8:19252200-19255200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:19252200-19255800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr8:19252200-19256000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:19252200-19256600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr8:19252200-19256600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:19252200-19262400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr8:19252400-19255000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr8:19252400-19266200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:19252400-19266200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:19252600-19256400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:19252800-19266200	Weak transcription	Fetal Kidney	kidney
50	chr8:19253000-19260000	Enhancers	Fetal Brain Male	brain

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