Variant report

Variant	rs9291182
Chromosome Location	chr4:74094500-74094501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74090826..74092875-chr4:74092966..74095699,2	MCF-7	breast:
2	chr4:74094116..74095692-chr4:74117214..74119409,2	K562	blood:
3	chr4:74092974..74095435-chr4:74123584..74125368,2	K562	blood:
4	chr4:74094205..74096174-chr4:74099236..74100932,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250220	Chromatin interaction
ENSG00000132466	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10034689	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]
rs10035001	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.80[EUR][1000 genomes]
rs10050235	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]
rs10805059	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs11724514	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11736349	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11935070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13101277	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs1534450	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs34740973	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4072	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4694155	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap]
rs4694156	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs5020219	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs58721459	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60190643	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6850870	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs7688637	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][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	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv879486	chr4:74031423-74114322	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv1793600	chr4:74046221-74116012	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv879488	chr4:74050725-74099754	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	nsv879489	chr4:74050725-74115116	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
10	esv3410570	chr4:74055180-74122498	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9291182	ANKRD17	cis	Liver	GTEx
rs9291182	RASSF6	cis	multi-tissue	Pritchard

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74056000-74123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:74059600-74123000	Weak transcription	Esophagus	oesophagus
3	chr4:74078200-74123000	Weak transcription	Lung	lung
4	chr4:74087600-74116400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:74087800-74123400	Weak transcription	Gastric	stomach
6	chr4:74088800-74097400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:74088800-74099200	Weak transcription	Placenta	Placenta
8	chr4:74088800-74100200	Weak transcription	Left Ventricle	heart
9	chr4:74088800-74111000	Weak transcription	Colonic Mucosa	Colon
10	chr4:74089000-74100200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:74089000-74121400	Weak transcription	Hela-S3	cervix
12	chr4:74089200-74096200	Weak transcription	HepG2	liver
13	chr4:74089200-74096800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:74089200-74097000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:74089200-74097200	Weak transcription	HSMM	muscle
16	chr4:74089200-74097400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:74089200-74097400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:74089200-74097400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:74089200-74097400	Weak transcription	Thymus	Thymus
20	chr4:74089200-74097800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:74089200-74098200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:74089200-74098600	Weak transcription	Fetal Muscle Leg	muscle
23	chr4:74089200-74098800	Weak transcription	Osteobl	bone
24	chr4:74089200-74099200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:74089200-74099200	Weak transcription	Fetal Intestine Large	intestine
26	chr4:74089200-74099400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr4:74089200-74100000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:74089200-74100200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:74089200-74100200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:74089200-74100200	Weak transcription	Fetal Brain Male	brain
31	chr4:74089200-74100200	Weak transcription	Ovary	ovary
32	chr4:74089200-74100200	Weak transcription	HSMMtube	muscle
33	chr4:74089200-74100200	Weak transcription	NH-A	brain
34	chr4:74089200-74100400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:74089200-74100400	Weak transcription	HMEC	breast
36	chr4:74089200-74108800	Weak transcription	Right Ventricle	heart
37	chr4:74089200-74109400	Weak transcription	Fetal Brain Female	brain
38	chr4:74089200-74111000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:74089200-74111600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:74089200-74117600	Weak transcription	NHDF-Ad	bronchial
41	chr4:74089200-74122000	Weak transcription	Aorta	Aorta
42	chr4:74089400-74096200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:74089400-74097200	Weak transcription	Brain Germinal Matrix	brain
44	chr4:74089400-74097600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:74089400-74098800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr4:74089400-74099400	Weak transcription	Adipose Nuclei	Adipose
47	chr4:74089400-74100000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:74089400-74100200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:74089400-74100600	Weak transcription	Fetal Kidney	kidney
50	chr4:74089400-74121800	Weak transcription	NHLF	lung

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