Variant report

Variant	rs10518803
Chromosome Location	chr15:55475264-55475265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55470856..55473009-chr15:55473749..55475937,3	K562	blood:
2	chr15:55468427..55470541-chr15:55470610..55476298,5	K562	blood:
3	chr15:55473947..55475927-chr15:55477072..55479129,2	K562	blood:
4	chr15:55468607..55473383-chr15:55473749..55481384,11	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10518797	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10518805	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11540399	0.83[AFR][1000 genomes]
rs12324754	1.00[ASN][1000 genomes]
rs12324775	1.00[ASN][1000 genomes]
rs12438278	1.00[ASN][1000 genomes]
rs12439213	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12439264	1.00[ASN][1000 genomes]
rs12439890	1.00[CHB][hapmap]
rs12440497	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12440550	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12441258	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12441307	1.00[ASN][1000 genomes]
rs12442180	1.00[ASN][1000 genomes]
rs12442887	1.00[ASN][1000 genomes]
rs12442920	1.00[ASN][1000 genomes]
rs12442937	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1528467	0.82[EUR][1000 genomes]
rs16975900	0.82[EUR][1000 genomes]
rs16975905	0.82[EUR][1000 genomes]
rs16976101	1.00[AFR][1000 genomes]
rs17238150	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17238178	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17818982	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17818988	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17819000	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17819012	1.00[CHB][hapmap]
rs1919175	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1994891	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1994892	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1997289	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2103303	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28499877	1.00[ASN][1000 genomes]
rs28705006	1.00[ASN][1000 genomes]
rs4774738	0.87[EUR][1000 genomes]
rs483320	0.82[EUR][1000 genomes]
rs516356	0.82[EUR][1000 genomes]
rs551132	0.82[EUR][1000 genomes]
rs557254	1.00[ASN][1000 genomes]
rs61638549	1.00[ASN][1000 genomes]
rs7170936	1.00[ASN][1000 genomes]
rs7173803	1.00[ASN][1000 genomes]
rs7177930	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73404075	0.93[EUR][1000 genomes]
rs73404091	0.93[EUR][1000 genomes]
rs73421740	0.82[EUR][1000 genomes]
rs8031625	1.00[CEU][hapmap]
rs8039254	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9920531	1.00[CHB][hapmap];0.83[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	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS 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	31 gene(s)	inside rSNPs	diseases
3	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv525768	chr15:55466155-55485494	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55455800-55487200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:55462600-55488600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:55464800-55488200	Weak transcription	Lung	lung
4	chr15:55465400-55476600	Weak transcription	Brain Anterior Caudate	brain
5	chr15:55466800-55486800	Weak transcription	Psoas Muscle	Psoas
6	chr15:55467800-55480600	Weak transcription	Fetal Stomach	stomach
7	chr15:55468000-55482000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:55468200-55481600	Weak transcription	Fetal Intestine Small	intestine
9	chr15:55468800-55487000	Weak transcription	Gastric	stomach
10	chr15:55469000-55477200	Strong transcription	Primary T cells from cord blood	blood
11	chr15:55469000-55481800	Weak transcription	Spleen	Spleen
12	chr15:55469200-55477200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:55469200-55484800	Strong transcription	Liver	Liver
14	chr15:55469200-55485000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr15:55469400-55478000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:55469400-55485200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:55469600-55479600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr15:55469600-55485000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr15:55469600-55485200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:55469600-55486000	Strong transcription	Primary B cells from cord blood	blood
21	chr15:55469800-55477400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr15:55469800-55477400	Strong transcription	Fetal Intestine Large	intestine
23	chr15:55469800-55477800	Strong transcription	HSMM	muscle
24	chr15:55469800-55484800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:55469800-55485000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:55469800-55486400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:55469800-55486600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:55470000-55477600	Strong transcription	Adipose Nuclei	Adipose
29	chr15:55470000-55484800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr15:55470000-55484800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:55470200-55475400	Weak transcription	NHEK	skin
32	chr15:55470200-55477800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr15:55470200-55479800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:55470200-55484000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:55470200-55486600	Weak transcription	Small Intestine	intestine
36	chr15:55470400-55475800	Strong transcription	A549	lung
37	chr15:55470400-55477200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr15:55470400-55477200	Strong transcription	Left Ventricle	heart
39	chr15:55470400-55477400	Strong transcription	GM12878-XiMat	blood
40	chr15:55470400-55477600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:55470400-55477800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr15:55470400-55480800	Strong transcription	Dnd41	blood
43	chr15:55470400-55485000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:55470400-55485200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:55470400-55486400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr15:55470400-55486400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:55470600-55477600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr15:55470600-55478800	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr15:55470800-55476000	Strong transcription	Fetal Brain Female	brain
50	chr15:55470800-55476400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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