Variant report

Variant	rs57263506
Chromosome Location	chr3:52039224-52039225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52037923..52043396-chr3:52046509..52049372,5	K562	blood:
2	chr3:52037989..52040956-chr3:52156220..52158578,2	K562	blood:
3	chr3:52031484..52033513-chr3:52037731..52040707,2	K562	blood:
4	chr3:52035823..52039676-chr3:52176607..52179905,3	K562	blood:
5	chr3:52033669..52037332-chr3:52037907..52042194,5	K562	blood:
6	chr3:52028198..52031397-chr3:52037550..52040278,4	K562	blood:
7	chr3:52038485..52040129-chr3:52168244..52170735,2	K562	blood:
8	chr3:52037550..52040223-chr3:52062466..52064386,2	K562	blood:
9	chr3:52037006..52039861-chr3:52064788..52067442,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162244	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs59682660	0.87[EUR][1000 genomes]
rs61087263	0.87[EUR][1000 genomes]
rs61546679	0.87[EUR][1000 genomes]
rs6446166	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7614743	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
3	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52030400-52039600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr3:52035400-52041800	Enhancers	Fetal Muscle Leg	muscle
3	chr3:52035800-52039400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:52035800-52041200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:52036000-52039400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr3:52036000-52039400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:52036000-52039400	Weak transcription	Liver	Liver
8	chr3:52036000-52039400	Weak transcription	Gastric	stomach
9	chr3:52036000-52039400	Weak transcription	Psoas Muscle	Psoas
10	chr3:52036000-52039600	Weak transcription	GM12878-XiMat	blood
11	chr3:52036000-52039800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:52036000-52040000	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:52036200-52039400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr3:52036200-52039400	Weak transcription	Dnd41	blood
15	chr3:52036200-52039600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr3:52036200-52039600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr3:52036200-52039600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:52036200-52039600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr3:52036200-52039800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr3:52036200-52039800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:52036200-52039800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr3:52036200-52040000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr3:52036200-52040000	Weak transcription	Thymus	Thymus
24	chr3:52036400-52039400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:52036400-52039600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr3:52036400-52039800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:52036400-52039800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:52037600-52041200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:52037800-52039800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:52037800-52041000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:52038000-52039600	Enhancers	Brain Hippocampus Middle	brain
32	chr3:52038000-52040400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:52038000-52041000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr3:52038000-52041200	Enhancers	Brain Angular Gyrus	brain
35	chr3:52038200-52039400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:52038200-52039600	Enhancers	Brain Cingulate Gyrus	brain
37	chr3:52038200-52039800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr3:52038200-52039800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr3:52038200-52040400	Enhancers	Esophagus	oesophagus
40	chr3:52038200-52040400	Enhancers	HMEC	breast
41	chr3:52038200-52040800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:52038200-52040800	Enhancers	Fetal Thymus	thymus
43	chr3:52038200-52041000	Enhancers	Brain Anterior Caudate	brain
44	chr3:52038200-52041000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr3:52038200-52041000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:52038200-52041000	Enhancers	Brain Substantia Nigra	brain
47	chr3:52038200-52041200	Enhancers	Fetal Stomach	stomach
48	chr3:52038200-52041200	Enhancers	Right Ventricle	heart
49	chr3:52038200-52041600	Enhancers	Spleen	Spleen
50	chr3:52038200-52042000	Enhancers	Left Ventricle	heart

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