Variant report

Variant	rs7254283
Chromosome Location	chr19:20015345-20015346
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	chr19:20012007..20015625-chr19:20016618..20018648,3	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1035063	0.93[CHB][hapmap]
rs1035064	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10414504	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11085281	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12460082	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12460085	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12460212	1.00[CHB][hapmap]
rs12462641	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12462916	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17699399	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs17699447	0.92[CHB][hapmap]
rs17699483	0.92[CHB][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2098330	0.87[ASN][1000 genomes]
rs2286919	0.81[AMR][1000 genomes]
rs2335369	0.86[ASN][1000 genomes]
rs2335371	0.86[CHB][hapmap]
rs4141048	0.92[CHB][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58841307	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60940659	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60948789	0.93[ASN][1000 genomes]
rs61739376	0.81[AMR][1000 genomes]
rs6511060	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6511068	0.81[AMR][1000 genomes]
rs7245577	0.86[ASN][1000 genomes]
rs7247240	0.91[ASN][1000 genomes]
rs7253016	0.81[AMR][1000 genomes]
rs7253941	0.93[ASN][1000 genomes]
rs7254200	0.91[ASN][1000 genomes]
rs7255055	0.87[ASN][1000 genomes]
rs7259551	0.86[ASN][1000 genomes]
rs7260190	0.81[AMR][1000 genomes]
rs7260360	0.85[ASN][1000 genomes]
rs73532745	0.86[ASN][1000 genomes]
rs73924111	0.86[ASN][1000 genomes]
rs73925535	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7507464	0.86[ASN][1000 genomes]
rs8100030	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8103816	0.93[CHB][hapmap]
rs8104863	0.89[CHB][hapmap]
rs8113346	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9676957	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv911314	chr19:19866371-20021046	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv911315	chr19:19872093-20021046	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv911316	chr19:19890450-20021046	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv961192	chr19:19906394-20083740	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv3319016	chr19:19917475-20819154	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
8	esv3319017	chr19:19917475-20819154	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
9	esv3413756	chr19:19936066-20072059	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv3380276	chr19:19936583-20073601	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv3429980	chr19:19943721-20102072	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1061846	chr19:19946927-20595412	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
13	esv3390957	chr19:19965887-20819154	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
14	nsv869122	chr19:19969851-20595412	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
15	nsv1057569	chr19:19973268-20193556	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv1059158	chr19:19973489-20576161	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers 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	43 gene(s)	inside rSNPs	diseases
17	esv3407363	chr19:20000919-20059307	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7254283	ZNF253	cis	multi-tissue	Pritchard

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20012600-20030000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:20012800-20017200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr19:20012800-20034200	Weak transcription	Pancreas	Pancrea
4	chr19:20012800-20034200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:20012800-20034600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr19:20012800-20043400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:20013000-20015400	Weak transcription	Right Ventricle	heart
8	chr19:20013000-20016000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:20013000-20019000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:20013000-20019800	Weak transcription	HSMM	muscle
11	chr19:20013000-20022600	Weak transcription	Aorta	Aorta
12	chr19:20013000-20024200	Weak transcription	Ovary	ovary
13	chr19:20013000-20034000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:20013000-20034600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:20013000-20034600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr19:20013000-20035200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr19:20013000-20039600	Weak transcription	Colon Smooth Muscle	Colon
18	chr19:20013200-20015600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr19:20013200-20016200	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr19:20013200-20016600	Weak transcription	NHDF-Ad	bronchial
21	chr19:20013200-20016800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr19:20013200-20017200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr19:20013200-20017400	Weak transcription	Fetal Lung	lung
24	chr19:20013200-20019600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr19:20013200-20021800	Weak transcription	Fetal Heart	heart
26	chr19:20013200-20026000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:20013200-20026200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr19:20013200-20027400	Weak transcription	HSMMtube	muscle
29	chr19:20013200-20027600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr19:20013200-20028600	Weak transcription	Adipose Nuclei	Adipose
31	chr19:20013200-20028800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
32	chr19:20013200-20034600	Weak transcription	Primary T cells from cord blood	blood
33	chr19:20013200-20043600	Weak transcription	Fetal Brain Male	brain
34	chr19:20013400-20016200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:20013400-20016800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:20013400-20018800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr19:20013400-20019800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr19:20013400-20019800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:20013400-20021000	Weak transcription	Left Ventricle	heart
40	chr19:20013400-20027400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:20013400-20033600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr19:20013400-20034000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:20013400-20034000	Weak transcription	Placenta	Placenta
44	chr19:20013400-20034200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:20013400-20035800	Weak transcription	Osteobl	bone
46	chr19:20013600-20016000	Strong transcription	Fetal Muscle Leg	muscle
47	chr19:20013800-20017200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:20014000-20015600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:20014000-20016400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:20014000-20016800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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