Variant report

Variant	rs10491386
Chromosome Location	chr5:96363709-96363710
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96363615..96366416-chr5:96368478..96370655,4	K562	blood:
2	chr5:96360368..96362790-chr5:96362902..96365710,3	K562	blood:
3	chr5:96361269..96364170-chr5:96517925..96520806,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000058729	Chromatin interaction
ENSG00000251513	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10491385	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10515253	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1057808	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17409040	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17446635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17446755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17446769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17446837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17446907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17446949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17486915	0.83[AMR][1000 genomes]
rs17487132	0.90[EUR][1000 genomes]
rs17487596	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17531068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17531164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17531192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17531213	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17531366	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17628359	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17684739	0.90[EUR][1000 genomes]
rs3797797	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs41276279	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55658367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55767008	0.81[EUR][1000 genomes]
rs55769558	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55870170	0.81[EUR][1000 genomes]
rs56002769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56003936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56009267	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56071818	0.93[EUR][1000 genomes]
rs56078010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7719293	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96315400-96374800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:96333600-96374000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:96333800-96372800	Strong transcription	Placenta	Placenta
4	chr5:96342600-96374400	Weak transcription	HepG2	liver
5	chr5:96346600-96372600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr5:96347000-96373600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:96348400-96372400	Strong transcription	Fetal Thymus	thymus
8	chr5:96348400-96374600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:96348600-96366000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:96351400-96379000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:96352200-96372600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:96354200-96363800	Weak transcription	Pancreas	Pancrea
13	chr5:96355800-96372200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:96356000-96364200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:96356000-96366400	Weak transcription	A549	lung
16	chr5:96356200-96364400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:96356400-96364200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:96357200-96364800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:96357800-96365000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:96357800-96365400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr5:96357800-96373800	Strong transcription	Adipose Nuclei	Adipose
22	chr5:96358000-96364600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:96358000-96364600	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:96358000-96364800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr5:96358000-96365600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr5:96358000-96365800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:96358000-96367400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:96358000-96367800	Strong transcription	Fetal Intestine Large	intestine
29	chr5:96358000-96368200	Strong transcription	Liver	Liver
30	chr5:96358000-96372800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:96358000-96373000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:96358200-96372400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr5:96358200-96372400	Strong transcription	Dnd41	blood
34	chr5:96358400-96365400	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:96358400-96367400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:96358600-96364800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:96358600-96367400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:96358800-96364800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr5:96358800-96367400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:96358800-96369000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:96358800-96372400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:96358800-96374000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:96359000-96367200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:96359000-96370400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:96359000-96373400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr5:96359000-96373600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:96359200-96365600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:96359200-96365600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
49	chr5:96359200-96365800	Strong transcription	Primary T cells from cord blood	blood
50	chr5:96359200-96366000	Strong transcription	GM12878-XiMat	blood

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