Variant report

Variant	rs16973541
Chromosome Location	chr19:38025027-38025028
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	chr19:38012056..38014685-chr19:38024985..38026861,2	K562	blood:

Variant related genes	Relation type
ENSG00000188227	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1016291	0.84[ASN][1000 genomes]
rs16973130	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16973717	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16973886	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16973890	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16973919	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16974061	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16974358	0.81[ASN][1000 genomes]
rs16974848	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2045907	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2061779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2216690	1.00[JPT][hapmap]
rs2290998	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2306200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2385128	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3795068	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3795070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs41325249	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4330033	0.81[ASN][1000 genomes]
rs4452074	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73632242	0.96[ASN][1000 genomes]
rs8107454	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8108032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs868096	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs955711	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription 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	23 gene(s)	inside rSNPs	diseases
2	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37999000-38028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:38002000-38028800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr19:38008800-38026600	Weak transcription	Fetal Heart	heart
4	chr19:38017400-38028800	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:38021600-38028800	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr19:38021600-38030200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr19:38021800-38028800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr19:38021800-38028800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:38021800-38028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:38021800-38028800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:38021800-38028800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr19:38021800-38029800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:38021800-38030000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:38021800-38030800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
15	chr19:38021800-38031600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:38022000-38028400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:38022000-38028800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
18	chr19:38022000-38030600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr19:38022200-38025600	Strong transcription	Fetal Muscle Leg	muscle
20	chr19:38022200-38025800	ZNF genes & repeats	Pancreas	Pancrea
21	chr19:38022200-38026000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
22	chr19:38022200-38027200	Strong transcription	Right Ventricle	heart
23	chr19:38022200-38028600	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr19:38022200-38028600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
25	chr19:38022200-38028600	ZNF genes & repeats	Fetal Stomach	stomach
26	chr19:38022200-38028800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
27	chr19:38022200-38028800	ZNF genes & repeats	Esophagus	oesophagus
28	chr19:38022200-38028800	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr19:38022200-38028800	ZNF genes & repeats	Left Ventricle	heart
30	chr19:38022200-38028800	ZNF genes & repeats	Spleen	Spleen
31	chr19:38022200-38029400	ZNF genes & repeats	Aorta	Aorta
32	chr19:38022200-38029600	ZNF genes & repeats	Ovary	ovary
33	chr19:38022200-38030200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:38022200-38037000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr19:38022400-38025400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:38022400-38025800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:38022400-38026000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:38022400-38026000	Strong transcription	Brain Germinal Matrix	brain
39	chr19:38022400-38026000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:38022400-38026000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr19:38022400-38026000	ZNF genes & repeats	Gastric	stomach
42	chr19:38022400-38026600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr19:38022400-38027400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr19:38022400-38028000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
45	chr19:38022400-38028600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
46	chr19:38022400-38028600	ZNF genes & repeats	Lung	lung
47	chr19:38022400-38028800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:38022400-38028800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:38022400-38028800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr19:38022400-38028800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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