Variant report

Variant	rs10515246
Chromosome Location	chr5:96099265-96099266
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96093830..96096336-chr5:96098370..96101209,3	K562	blood:
2	chr5:96091194..96092981-chr5:96097653..96099589,2	K562	blood:
3	chr5:96099187..96101210-chr5:96104381..96106499,2	K562	blood:

Variant related genes	Relation type
ENSG00000153113	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10447215	0.87[EUR][1000 genomes]
rs10515244	0.86[EUR][1000 genomes]
rs10515247	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10515248	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10515249	1.00[AFR][1000 genomes]
rs10515250	1.00[AFR][1000 genomes]
rs11135480	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11738115	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11738810	1.00[AFR][1000 genomes]
rs11739020	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11739280	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs11740375	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11740598	1.00[AFR][1000 genomes]
rs11741100	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11742261	1.00[AFR][1000 genomes]
rs11743410	1.00[AFR][1000 genomes]
rs11745122	0.87[EUR][1000 genomes]
rs11746534	1.00[AFR][1000 genomes]
rs11747148	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11747179	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11747896	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11748328	1.00[AFR][1000 genomes]
rs11748519	1.00[AFR][1000 genomes]
rs11748795	1.00[AFR][1000 genomes]
rs11749811	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11750399	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs11750400	0.86[EUR][1000 genomes]
rs11750464	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11750671	1.00[AFR][1000 genomes]
rs11750934	1.00[AFR][1000 genomes]
rs12186366	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13601	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1559085	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs17400685	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs17400741	0.87[EUR][1000 genomes]
rs17401901	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17402639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17402704	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17405676	1.00[AFR][1000 genomes]
rs17479052	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs17481334	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17481759	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17481856	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17484359	1.00[AFR][1000 genomes]
rs2042386	1.00[AFR][1000 genomes]
rs3333	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3334	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3335	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35898772	1.00[AFR][1000 genomes]
rs55773007	1.00[AFR][1000 genomes]
rs55996659	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56119802	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56122780	0.87[EUR][1000 genomes]
rs56213813	0.85[AMR][1000 genomes]
rs56319744	1.00[AFR][1000 genomes]
rs56325109	0.80[AMR][1000 genomes]
rs56395748	1.00[AFR][1000 genomes]
rs72773905	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72773906	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72773912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72773917	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72773922	1.00[AFR][1000 genomes]
rs72773923	1.00[AFR][1000 genomes]
rs72773932	1.00[AFR][1000 genomes]
rs72773942	1.00[AFR][1000 genomes]
rs72773947	1.00[AFR][1000 genomes]
rs72773950	1.00[AFR][1000 genomes]
rs72773968	1.00[AFR][1000 genomes]
rs72773969	1.00[AFR][1000 genomes]
rs72773981	1.00[AFR][1000 genomes]
rs72773986	1.00[AFR][1000 genomes]
rs72773991	1.00[AFR][1000 genomes]
rs72775807	1.00[AFR][1000 genomes]
rs72775809	1.00[AFR][1000 genomes]
rs72775817	1.00[AFR][1000 genomes]
rs72775818	1.00[AFR][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	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	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
3	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	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
5	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	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
7	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96063000-96126200	Weak transcription	Brain Germinal Matrix	brain
2	chr5:96068200-96100400	Strong transcription	Liver	Liver
3	chr5:96068400-96138200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr5:96068600-96130000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:96070200-96116400	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr5:96071000-96112800	Strong transcription	Hela-S3	cervix
7	chr5:96071400-96113000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:96071400-96126600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:96071600-96103200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:96072600-96115600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:96073400-96115600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:96075200-96120400	Weak transcription	Fetal Brain Female	brain
13	chr5:96078000-96111200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:96079400-96115600	Strong transcription	HMEC	breast
15	chr5:96079400-96126600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:96079600-96112800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:96079600-96115400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:96079600-96115600	Strong transcription	NHDF-Ad	bronchial
19	chr5:96079600-96123600	Strong transcription	Placenta	Placenta
20	chr5:96079600-96126400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:96079600-96126600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:96079600-96126600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr5:96083800-96108800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr5:96083800-96116400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr5:96086200-96100200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:96087200-96113800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:96088000-96104200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:96088800-96107400	Strong transcription	A549	lung
29	chr5:96089200-96137000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:96090400-96110000	Strong transcription	HUVEC	blood vessel
31	chr5:96092200-96100200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr5:96092800-96126600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:96093000-96100200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:96093000-96100200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:96093000-96100600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:96093400-96100200	Weak transcription	Stomach Mucosa	stomach
37	chr5:96093400-96101200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr5:96093800-96101600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:96094000-96100200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:96094600-96100000	Weak transcription	Brain Anterior Caudate	brain
41	chr5:96094600-96100000	Weak transcription	HSMMtube	muscle
42	chr5:96094600-96115600	Strong transcription	HSMM	muscle
43	chr5:96094800-96100000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr5:96094800-96101200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr5:96094800-96101200	Weak transcription	Fetal Heart	heart
46	chr5:96094800-96110000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:96096200-96115800	Strong transcription	NH-A	brain
48	chr5:96096400-96122800	Strong transcription	Primary B cells from cord blood	blood
49	chr5:96096600-96107000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:96096600-96116400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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