Variant report

Variant	rs10048511
Chromosome Location	chr19:38259666-38259667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38256038..38258477-chr19:38258531..38260725,2	MCF-7	breast:
2	chr19:38259097..38263090-chr19:38267286..38270188,4	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10402530	0.80[EUR][1000 genomes]
rs10409402	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10409487	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10420746	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10420891	0.80[EUR][1000 genomes]
rs11673023	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11879180	0.80[EUR][1000 genomes]
rs1291	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12974225	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12975057	0.80[EUR][1000 genomes]
rs171376	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1974714	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2075284	0.81[ASN][1000 genomes]
rs2287229	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs241932	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241933	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs241950	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2909093	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2909098	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2909100	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2972434	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2972437	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972438	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972439	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972445	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3095724	0.83[ASN][1000 genomes]
rs3095726	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3112434	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4803509	0.90[ASN][1000 genomes]
rs4803524	0.80[EUR][1000 genomes]
rs6508742	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8102579	0.80[EUR][1000 genomes]
rs8103633	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8112706	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8182498	0.80[EUR][1000 genomes]
rs856300	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs856304	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9304569	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs958305	0.80[EUR][1000 genomes]
rs968073	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers 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 lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv2437108	chr19:38259235-38260763	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38230800-38259800	Weak transcription	Fetal Thymus	thymus
2	chr19:38231000-38260400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:38231400-38259800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:38231800-38269200	Weak transcription	Fetal Brain Male	brain
5	chr19:38236400-38269400	Weak transcription	Aorta	Aorta
6	chr19:38237000-38260400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:38238800-38269400	Weak transcription	Small Intestine	intestine
8	chr19:38239000-38269400	Weak transcription	Colonic Mucosa	Colon
9	chr19:38242800-38269000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:38246800-38259800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr19:38247400-38259800	Weak transcription	Placenta	Placenta
12	chr19:38247800-38260000	Weak transcription	Osteobl	bone
13	chr19:38247800-38269200	Weak transcription	Hela-S3	cervix
14	chr19:38248400-38264600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr19:38248800-38269400	Weak transcription	NH-A	brain
16	chr19:38249200-38269000	Weak transcription	Spleen	Spleen
17	chr19:38249800-38269400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr19:38250600-38262600	Strong transcription	Stomach Smooth Muscle	stomach
19	chr19:38250600-38264000	Strong transcription	Primary T cells from cord blood	blood
20	chr19:38250600-38264400	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr19:38250600-38265000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:38250600-38266400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:38250800-38261400	Strong transcription	Fetal Stomach	stomach
24	chr19:38251400-38261200	Strong transcription	Fetal Muscle Leg	muscle
25	chr19:38251800-38269400	Weak transcription	Gastric	stomach
26	chr19:38251800-38269400	Weak transcription	HUVEC	blood vessel
27	chr19:38252200-38269400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:38252600-38269000	Weak transcription	NHEK	skin
29	chr19:38253000-38260000	Weak transcription	HepG2	liver
30	chr19:38253400-38263600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:38253600-38261400	Strong transcription	Fetal Intestine Large	intestine
32	chr19:38253600-38263600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr19:38253800-38259800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr19:38254600-38269400	Weak transcription	Right Ventricle	heart
35	chr19:38254800-38269200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:38255400-38262600	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr19:38255400-38264800	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr19:38255600-38261000	Strong transcription	Fetal Muscle Trunk	muscle
39	chr19:38255600-38263000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:38255600-38264000	Strong transcription	Adipose Nuclei	Adipose
41	chr19:38255600-38264200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr19:38255800-38260800	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr19:38255800-38261200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:38255800-38262600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr19:38255800-38262600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr19:38255800-38265200	Strong transcription	Primary B cells from cord blood	blood
47	chr19:38255800-38266400	ZNF genes & repeats	Liver	Liver
48	chr19:38256000-38262400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:38256000-38262400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr19:38256400-38262600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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