Variant report

Variant	rs11952518
Chromosome Location	chr5:81056352-81056353
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:81054198..81057812-chr5:81146006..81150384,5	K562	blood:
2	chr5:81056056..81058943-chr5:81144399..81145914,2	K562	blood:
3	chr5:81045698..81048740-chr5:81055494..81058903,3	MCF-7	breast:
4	chr5:81053903..81057293-chr5:81057315..81060035,4	K562	blood:
5	chr5:81047664..81050586-chr5:81054821..81057159,3	MCF-7	breast:
6	chr5:81042198..81043973-chr5:81054034..81056633,2	K562	blood:
7	chr5:81044752..81060050-chr5:81140268..81152732,43	K562	blood:

Variant related genes	Relation type
ENSG00000249483	Chromatin interaction
ENSG00000145687	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs56171371	1.00[AMR][1000 genomes]
rs57455684	1.00[AMR][1000 genomes]
rs57679797	1.00[AMR][1000 genomes]
rs57695076	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60796217	0.85[AMR][1000 genomes]
rs60863858	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6452421	0.85[AMR][1000 genomes]
rs6893327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6897697	0.85[AMR][1000 genomes]
rs73766271	0.85[AMR][1000 genomes]
rs73766289	0.85[AMR][1000 genomes]
rs73766290	0.85[AMR][1000 genomes]
rs73766295	1.00[AMR][1000 genomes]
rs73766298	1.00[AMR][1000 genomes]
rs73766300	0.85[AMR][1000 genomes]
rs73768105	1.00[AMR][1000 genomes]
rs73768115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768119	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768120	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768122	0.85[AMR][1000 genomes]
rs73768123	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7719738	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7728066	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7735543	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv4900	chr5:81022018-81067365	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv598753	chr5:81031741-81491087	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv471018	chr5:81036805-81480371	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1033091	chr5:81039194-81159522	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv869102	chr5:81052386-81494502	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:81048000-81065000	Weak transcription	Aorta	Aorta
2	chr5:81048400-81056400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:81048400-81056600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:81048400-81060200	Weak transcription	Right Atrium	heart
5	chr5:81048400-81062400	Weak transcription	Left Ventricle	heart
6	chr5:81051600-81057400	Weak transcription	Stomach Mucosa	stomach
7	chr5:81051800-81056400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:81051800-81056400	Weak transcription	Fetal Intestine Small	intestine
9	chr5:81052200-81063600	Weak transcription	NH-A	brain
10	chr5:81052200-81064800	Weak transcription	NHDF-Ad	bronchial
11	chr5:81052200-81065400	Weak transcription	Placenta	Placenta
12	chr5:81052400-81057000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:81052400-81063600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:81052600-81056400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:81052800-81072200	Weak transcription	Psoas Muscle	Psoas
16	chr5:81053000-81058000	Weak transcription	A549	lung
17	chr5:81054000-81057000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr5:81054000-81057400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:81054200-81057200	Enhancers	Fetal Thymus	thymus
20	chr5:81054200-81057600	Enhancers	Primary T cells from cord blood	blood
21	chr5:81054800-81056400	Active TSS	K562	blood
22	chr5:81054800-81057400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr5:81054800-81060200	Weak transcription	Thymus	Thymus
24	chr5:81054800-81064800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:81055400-81057400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:81055600-81056600	Weak transcription	Dnd41	blood
27	chr5:81055800-81057200	Enhancers	Brain Substantia Nigra	brain
28	chr5:81055800-81059400	Weak transcription	Adipose Nuclei	Adipose
29	chr5:81056000-81056600	Weak transcription	Brain Anterior Caudate	brain
30	chr5:81056000-81057000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:81056000-81057000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:81056000-81058800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr5:81056000-81063600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:81056200-81056400	Weak transcription	Brain Hippocampus Middle	brain
35	chr5:81056200-81063000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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