Variant report

Variant	rs11869582
Chromosome Location	chr17:18136581-18136582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:18135343..18136871-chr17:18137313..18139125,2	MCF-7	breast:
2	chr17:18135795..18137603-chr17:18160135..18163013,2	MCF-7	breast:
3	chr17:18128887..18137475-chr17:18144772..18151698,11	K562	blood:
4	chr17:18136077..18142771-chr17:18143654..18157956,22	MCF-7	breast:
5	chr17:18135872..18138183-chr17:18147458..18150169,3	K562	blood:

Variant related genes	Relation type
ENSG00000177731	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10048161	0.87[CEU][hapmap]
rs11078411	0.80[CEU][hapmap]
rs11078412	0.80[CEU][hapmap]
rs11655588	0.80[CEU][hapmap]
rs11655731	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs11658477	0.87[CEU][hapmap]
rs11867895	0.88[EUR][1000 genomes]
rs11868708	0.94[CEU][hapmap]
rs11871039	1.00[ASN][1000 genomes]
rs11871491	0.86[CEU][hapmap]
rs11872031	0.87[EUR][1000 genomes]
rs12449313	0.94[CEU][hapmap]
rs12600694	0.80[CEU][hapmap]
rs12939851	0.86[EUR][1000 genomes]
rs13284	0.87[CEU][hapmap]
rs1563371	0.80[CEU][hapmap]
rs16960980	0.80[CEU][hapmap]
rs16960983	0.80[CEU][hapmap]
rs16960986	0.80[CEU][hapmap]
rs16960990	0.80[CEU][hapmap]
rs16960996	0.81[CEU][hapmap]
rs16961114	0.92[CEU][hapmap]
rs16961153	0.94[CEU][hapmap]
rs1925	0.94[CEU][hapmap]
rs2015336	0.81[CEU][hapmap]
rs2071242	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs2273029	0.93[CEU][hapmap]
rs2290502	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs2290503	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs2290504	0.87[EUR][1000 genomes]
rs2290505	0.88[EUR][1000 genomes]
rs2294913	0.94[CEU][hapmap]
rs28364628	0.88[CEU][hapmap]
rs3088233	0.80[CEU][hapmap]
rs35738574	0.83[EUR][1000 genomes]
rs3817992	0.94[CEU][hapmap]
rs3829956	0.94[CEU][hapmap]
rs3862147	0.87[EUR][1000 genomes]
rs3889544	0.87[EUR][1000 genomes]
rs4386179	0.88[EUR][1000 genomes]
rs4450455	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs4500798	0.83[CEU][hapmap]
rs4556848	0.87[EUR][1000 genomes]
rs4925151	0.87[EUR][1000 genomes]
rs4925177	0.83[CEU][hapmap]
rs55918833	1.00[ASN][1000 genomes]
rs57490980	0.81[EUR][1000 genomes]
rs62072467	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62072496	1.00[ASN][1000 genomes]
rs62072497	1.00[ASN][1000 genomes]
rs62072507	0.81[EUR][1000 genomes]
rs62072546	0.84[AMR][1000 genomes]
rs62073606	1.00[ASN][1000 genomes]
rs62073611	1.00[ASN][1000 genomes]
rs62073615	1.00[ASN][1000 genomes]
rs6502640	0.80[CEU][hapmap]
rs6502641	0.85[EUR][1000 genomes]
rs7211573	0.88[EUR][1000 genomes]
rs7215678	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs7405677	0.88[EUR][1000 genomes]
rs7498	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs8065026	0.81[CEU][hapmap]
rs8077577	0.81[CEU][hapmap]
rs9909104	0.82[CEU][hapmap]
rs9910090	0.83[CEU][hapmap]
rs9913139	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs997315	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS 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	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv543246	chr17:18121007-18165604	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
11	nsv9503	chr17:18121474-18169166	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
12	nsv907776	chr17:18122485-18170948	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
13	nsv1066718	chr17:18125122-18180807	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv907777	chr17:18131087-18163262	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11869582	ALKBH5,FLJ13773	cis	temporal cortex	BrainEAC
rs11869582	MYO15A	cis	Thyroid	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18129600-18148400	Weak transcription	Small Intestine	intestine
2	chr17:18129800-18137000	Weak transcription	Aorta	Aorta
3	chr17:18130000-18137000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:18130000-18137000	Weak transcription	Left Ventricle	heart
5	chr17:18130000-18137200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr17:18130000-18145400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr17:18130000-18148200	Weak transcription	Fetal Kidney	kidney
8	chr17:18130000-18148200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr17:18130000-18149200	Weak transcription	Psoas Muscle	Psoas
10	chr17:18130200-18136800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr17:18130200-18137000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr17:18130200-18137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr17:18130200-18137400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr17:18130200-18137400	Weak transcription	Colonic Mucosa	Colon
15	chr17:18130200-18138000	Weak transcription	HUVEC	blood vessel
16	chr17:18130200-18139600	Weak transcription	Primary B cells from cord blood	blood
17	chr17:18130200-18145600	Weak transcription	A549	lung
18	chr17:18130200-18147000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:18130200-18147000	Weak transcription	Liver	Liver
20	chr17:18130200-18150800	Weak transcription	Right Atrium	heart
21	chr17:18130400-18136800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:18130400-18137400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:18130400-18138000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr17:18130400-18138400	Weak transcription	HSMMtube	muscle
25	chr17:18130400-18138600	Weak transcription	HSMM	muscle
26	chr17:18130400-18139200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr17:18130400-18142400	Weak transcription	Fetal Heart	heart
28	chr17:18130400-18146200	Weak transcription	NHDF-Ad	bronchial
29	chr17:18130400-18148200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr17:18130600-18136800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr17:18130600-18136800	Weak transcription	HMEC	breast
32	chr17:18130600-18137000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr17:18130600-18138600	Weak transcription	NH-A	brain
34	chr17:18130600-18148200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr17:18130800-18138000	Weak transcription	Colon Smooth Muscle	Colon
36	chr17:18131200-18148400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr17:18132800-18136800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr17:18133200-18137600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr17:18133600-18137200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:18133600-18137200	Weak transcription	HepG2	liver
41	chr17:18134600-18149600	Strong transcription	Fetal Intestine Small	intestine
42	chr17:18134600-18150800	Weak transcription	Fetal Brain Male	brain
43	chr17:18134600-18150800	Strong transcription	Fetal Stomach	stomach
44	chr17:18134800-18137000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:18134800-18138800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr17:18134800-18142000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr17:18135000-18136800	Genic enhancers	Brain Hippocampus Middle	brain
48	chr17:18135000-18149400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr17:18135200-18137000	Genic enhancers	Brain Cingulate Gyrus	brain
50	chr17:18135200-18138200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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