Variant report

Variant	rs7256747
Chromosome Location	chr19:38067999-38068000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38063030..38065590-chr19:38067870..38069541,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10153500	0.80[AFR][1000 genomes]
rs1038084	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1038085	0.80[EUR][1000 genomes]
rs10407657	0.99[AFR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10417204	0.82[EUR][1000 genomes]
rs10424612	0.99[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10425671	0.84[EUR][1000 genomes]
rs1116234	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11883392	0.84[EUR][1000 genomes]
rs12981750	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2045909	0.84[EUR][1000 genomes]
rs2061778	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2126978	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2199644	0.80[EUR][1000 genomes]
rs2291000	0.84[EUR][1000 genomes]
rs2385124	0.82[EUR][1000 genomes]
rs2385125	0.80[EUR][1000 genomes]
rs2891683	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2927744	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4802069	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4803216	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4803228	0.82[EUR][1000 genomes]
rs62108260	0.80[AFR][1000 genomes]
rs7255283	0.99[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7259566	0.88[EUR][1000 genomes]
rs8102916	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8113076	0.99[AFR][1000 genomes];0.94[EUR][1000 genomes];0.99[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	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38032400-38080800	ZNF genes & repeats	Liver	Liver
2	chr19:38032600-38075200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:38038000-38078400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:38038600-38079600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:38041200-38079600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:38045000-38078600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:38046400-38071800	ZNF genes & repeats	Brain Hippocampus Middle	brain
8	chr19:38046600-38079600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
9	chr19:38047400-38078600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr19:38049200-38079600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr19:38051600-38077600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
12	chr19:38051600-38078800	ZNF genes & repeats	Fetal Brain Female	brain
13	chr19:38052200-38075200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
14	chr19:38052200-38078600	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr19:38053200-38078200	ZNF genes & repeats	Brain Germinal Matrix	brain
16	chr19:38053200-38078600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:38053400-38078400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
18	chr19:38059800-38078000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr19:38060600-38069200	ZNF genes & repeats	Fetal Lung	lung
20	chr19:38061200-38069000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:38061800-38069200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:38062800-38068600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:38064800-38068600	Weak transcription	Fetal Intestine Small	intestine
24	chr19:38064800-38068600	Weak transcription	Fetal Stomach	stomach
25	chr19:38064800-38068600	Weak transcription	Lung	lung
26	chr19:38064800-38068800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:38064800-38068800	Weak transcription	Pancreas	Pancrea
28	chr19:38065200-38078800	ZNF genes & repeats	Colon Smooth Muscle	Colon
29	chr19:38065800-38078400	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr19:38065800-38078600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
31	chr19:38066000-38072000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
32	chr19:38066200-38068000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:38066200-38068400	Weak transcription	Right Ventricle	heart
34	chr19:38066200-38069800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:38066600-38068800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:38066600-38068800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:38066800-38068200	Weak transcription	Brain Angular Gyrus	brain
38	chr19:38066800-38068600	Weak transcription	Esophagus	oesophagus
39	chr19:38066800-38068600	Weak transcription	Left Ventricle	heart
40	chr19:38066800-38068600	Weak transcription	Ovary	ovary
41	chr19:38066800-38068600	Weak transcription	Spleen	Spleen
42	chr19:38066800-38068800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:38066800-38068800	Weak transcription	Aorta	Aorta
44	chr19:38066800-38068800	Weak transcription	Gastric	stomach
45	chr19:38066800-38071200	Weak transcription	Fetal Heart	heart
46	chr19:38067000-38068000	Weak transcription	Fetal Brain Male	brain
47	chr19:38067000-38068200	Weak transcription	Brain Anterior Caudate	brain
48	chr19:38067000-38068400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:38067000-38068600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:38067000-38068600	Weak transcription	Fetal Intestine Large	intestine

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