Variant report

Variant	rs73116645
Chromosome Location	chr4:26872031-26872032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:26862208..26864121-chr4:26871269..26873749,2	K562	blood:
2	chr4:26864497..26869713-chr4:26871452..26874672,4	K562	blood:
3	chr4:26870794..26874241-chr4:26874669..26877356,3	K562	blood:

Variant related genes	Relation type
ENSG00000248340	Chromatin interaction
ENSG00000240005	Chromatin interaction
ENSG00000109689	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10028164	1.00[EUR][1000 genomes]
rs10031905	1.00[EUR][1000 genomes]
rs1035075	1.00[EUR][1000 genomes]
rs1860981	1.00[EUR][1000 genomes]
rs2192241	1.00[EUR][1000 genomes]
rs2309497	1.00[EUR][1000 genomes]
rs28489605	1.00[EUR][1000 genomes]
rs4129747	1.00[EUR][1000 genomes]
rs4140681	1.00[EUR][1000 genomes]
rs4599399	1.00[EUR][1000 genomes]
rs4692016	1.00[EUR][1000 genomes]
rs4692017	1.00[EUR][1000 genomes]
rs4692018	1.00[EUR][1000 genomes]
rs4692138	1.00[EUR][1000 genomes]
rs55646519	1.00[EUR][1000 genomes]
rs56001106	1.00[EUR][1000 genomes]
rs56810203	1.00[EUR][1000 genomes]
rs57668778	1.00[EUR][1000 genomes]
rs57810647	1.00[EUR][1000 genomes]
rs59530500	1.00[EUR][1000 genomes]
rs59678983	1.00[EUR][1000 genomes]
rs61084398	1.00[EUR][1000 genomes]
rs6448490	1.00[EUR][1000 genomes]
rs6841079	1.00[EUR][1000 genomes]
rs6858361	1.00[EUR][1000 genomes]
rs73116642	1.00[EUR][1000 genomes]
rs73116643	1.00[EUR][1000 genomes]
rs73116652	1.00[EUR][1000 genomes]
rs73116653	1.00[EUR][1000 genomes]
rs73116655	1.00[EUR][1000 genomes]
rs73116657	1.00[EUR][1000 genomes]
rs73116660	1.00[EUR][1000 genomes]
rs73116665	1.00[EUR][1000 genomes]
rs73116670	1.00[EUR][1000 genomes]
rs73116672	1.00[EUR][1000 genomes]
rs73116675	1.00[EUR][1000 genomes]
rs7670520	1.00[EUR][1000 genomes]
rs7688601	1.00[EUR][1000 genomes]
rs887792	1.00[EUR][1000 genomes]
rs887794	1.00[EUR][1000 genomes]
rs9790760	1.00[EUR][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	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26863800-26874600	Weak transcription	Left Ventricle	heart
2	chr4:26863800-26874600	Weak transcription	Spleen	Spleen
3	chr4:26863800-26875400	Weak transcription	Lung	lung
4	chr4:26864200-26876800	Weak transcription	Colonic Mucosa	Colon
5	chr4:26864200-26877200	Weak transcription	Aorta	Aorta
6	chr4:26864400-26872600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:26864400-26873400	Weak transcription	A549	lung
8	chr4:26864400-26886600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:26864600-26872600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:26864600-26885600	Weak transcription	Thymus	Thymus
11	chr4:26864800-26872600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:26865200-26873000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:26865200-26873200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:26865600-26876000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr4:26865800-26872400	Weak transcription	HSMMtube	muscle
16	chr4:26865800-26872600	Weak transcription	HSMM	muscle
17	chr4:26866000-26872600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:26866000-26880400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:26866000-26881800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:26867000-26872600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:26867200-26879000	Weak transcription	Fetal Intestine Small	intestine
22	chr4:26867200-26880000	Weak transcription	Fetal Intestine Large	intestine
23	chr4:26867200-26884200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:26867600-26873000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:26868000-26872200	Weak transcription	HMEC	breast
26	chr4:26869400-26873400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:26869400-26876200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:26869600-26874600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr4:26869600-26876000	Enhancers	Primary T cells from cord blood	blood
30	chr4:26869800-26872400	Weak transcription	Fetal Heart	heart
31	chr4:26869800-26873200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:26869800-26873200	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:26869800-26873200	Weak transcription	NH-A	brain
34	chr4:26869800-26873400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:26869800-26873400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:26869800-26874600	Weak transcription	Brain Angular Gyrus	brain
37	chr4:26869800-26875400	Weak transcription	Pancreas	Pancrea
38	chr4:26869800-26877000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr4:26869800-26886000	Weak transcription	Fetal Stomach	stomach
40	chr4:26870000-26872400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:26870000-26872400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:26870000-26872800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:26870000-26873200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr4:26870000-26874400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr4:26870000-26874600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:26870000-26875000	Weak transcription	Brain Anterior Caudate	brain
47	chr4:26870000-26875000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr4:26870000-26875000	Weak transcription	Fetal Muscle Leg	muscle
49	chr4:26870000-26875000	Weak transcription	Fetal Thymus	thymus
50	chr4:26870000-26875200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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