Variant report

Variant	rs7251727
Chromosome Location	chr19:36692615-36692616
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	chr19:36690805..36693651-chr19:36696713..36700179,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10409091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10411031	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10416179	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10416237	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10417892	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12973781	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2070132	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2287897	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2287898	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2310856	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2432039	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2432042	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2432043	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2432045	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2432049	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2432051	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2432052	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2432054	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2438514	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2438517	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28408024	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2918375	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2918378	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2918379	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2918380	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972321	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972537	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2972539	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972542	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4239585	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4806283	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6510527	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8102020	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36669600-36704800	Weak transcription	Psoas Muscle	Psoas
2	chr19:36673800-36704800	Weak transcription	Fetal Kidney	kidney
3	chr19:36674000-36704800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:36674400-36704600	Weak transcription	Fetal Brain Male	brain
5	chr19:36674600-36704600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:36674600-36704600	Weak transcription	HMEC	breast
7	chr19:36674600-36704600	Weak transcription	NH-A	brain
8	chr19:36674600-36704600	Weak transcription	NHEK	skin
9	chr19:36674600-36704800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:36674800-36694400	Weak transcription	Fetal Heart	heart
11	chr19:36682600-36705000	Weak transcription	Small Intestine	intestine
12	chr19:36685200-36704800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr19:36685400-36704600	Weak transcription	HSMM	muscle
14	chr19:36685800-36699400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:36685800-36704600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:36685800-36704800	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:36686000-36695800	Weak transcription	Ovary	ovary
18	chr19:36686000-36697000	Weak transcription	Aorta	Aorta
19	chr19:36686000-36697800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:36686000-36698800	Weak transcription	Brain Anterior Caudate	brain
21	chr19:36686000-36702800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:36686000-36703800	Weak transcription	Dnd41	blood
23	chr19:36686000-36704000	Weak transcription	Pancreas	Pancrea
24	chr19:36686000-36704600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:36686000-36704600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:36686000-36704600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:36686000-36704600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:36686000-36704600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:36686000-36704600	Weak transcription	Colonic Mucosa	Colon
30	chr19:36686000-36704600	Weak transcription	Gastric	stomach
31	chr19:36686000-36704600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr19:36686000-36704600	Weak transcription	Spleen	Spleen
33	chr19:36686000-36704600	Weak transcription	Osteobl	bone
34	chr19:36686000-36704800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:36686000-36704800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:36686000-36704800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr19:36686000-36704800	Weak transcription	Placenta	Placenta
38	chr19:36686000-36704800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr19:36686000-36704800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr19:36686000-36704800	Weak transcription	Thymus	Thymus
41	chr19:36686200-36693400	Weak transcription	Fetal Intestine Large	intestine
42	chr19:36686200-36695200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:36686200-36696000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr19:36686200-36701400	Weak transcription	A549	lung
45	chr19:36686200-36704000	Weak transcription	Adipose Nuclei	Adipose
46	chr19:36686200-36704000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:36686200-36704600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr19:36686200-36704800	Weak transcription	Primary B cells from cord blood	blood
49	chr19:36686200-36704800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr19:36686200-36704800	Weak transcription	Left Ventricle	heart

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