Variant report

Variant	rs31463
Chromosome Location	chr5:16933637-16933638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16843726..16846155-chr5:16931255..16933740,2	MCF-7	breast:
2	chr5:16932890..16934632-chr5:16945745..16947354,2	MCF-7	breast:
3	chr5:16921246..16923281-chr5:16933082..16934946,2	MCF-7	breast:
4	chr5:16931500..16934308-chr5:16935460..16937952,2	K562	blood:

Variant related genes	Relation type
ENSG00000145555	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10068690	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2434963	0.81[AFR][1000 genomes]
rs31456	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31457	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31458	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31459	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31460	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31462	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31464	0.81[GIH][hapmap]
rs73066810	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3485757	chr5:16856475-16966851	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv3485758	chr5:16856475-16966851	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16914600-16934400	Weak transcription	Psoas Muscle	Psoas
2	chr5:16929800-16933800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:16930200-16934000	Enhancers	Fetal Intestine Large	intestine
4	chr5:16930200-16934000	Enhancers	Fetal Muscle Leg	muscle
5	chr5:16931000-16933800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:16931400-16934000	Enhancers	Fetal Kidney	kidney
7	chr5:16931600-16933800	Enhancers	Fetal Intestine Small	intestine
8	chr5:16931600-16933800	Flanking Active TSS	HUVEC	blood vessel
9	chr5:16931600-16934000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:16931600-16934000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:16931600-16934200	Enhancers	Hela-S3	cervix
12	chr5:16931600-16934600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr5:16931800-16934000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:16931800-16934000	Weak transcription	Lung	lung
15	chr5:16931800-16934400	Weak transcription	Spleen	Spleen
16	chr5:16931800-16937000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:16932200-16933800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:16932400-16933800	Flanking Active TSS	NH-A	brain
19	chr5:16932400-16933800	Flanking Active TSS	NHLF	lung
20	chr5:16932600-16933800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:16932600-16933800	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr5:16932600-16935400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:16932600-16937000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:16932600-16937000	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr5:16932600-16937200	Active TSS	HSMMtube	muscle
26	chr5:16932800-16933800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:16932800-16934000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:16932800-16934000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr5:16932800-16936200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
30	chr5:16933000-16934000	Active TSS	Rectal Smooth Muscle	rectum
31	chr5:16933000-16934400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:16933000-16936800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:16933000-16937400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr5:16933200-16933800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:16933200-16933800	Flanking Active TSS	HMEC	breast
36	chr5:16933200-16934000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:16933200-16934000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:16933200-16934000	Flanking Active TSS	Fetal Lung	lung
39	chr5:16933200-16934000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr5:16933200-16934000	Flanking Active TSS	NHEK	skin
41	chr5:16933200-16934200	Flanking Active TSS	Osteobl	bone
42	chr5:16933200-16934400	Weak transcription	Small Intestine	intestine
43	chr5:16933200-16935200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:16933400-16933800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
45	chr5:16933400-16933800	Flanking Active TSS	Colonic Mucosa	Colon
46	chr5:16933400-16933800	Weak transcription	Fetal Stomach	stomach
47	chr5:16933400-16933800	Flanking Active TSS	Ovary	ovary
48	chr5:16933400-16933800	Flanking Active TSS	HSMM	muscle
49	chr5:16933400-16934000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:16933400-16934200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

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