Variant report

Variant	rs3792703
Chromosome Location	chr4:56502178-56502179
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56500129..56502345-chr4:56579313..56582236,2	K562	blood:
2	chr4:56410839..56413778-chr4:56501227..56505067,4	K562	blood:
3	chr4:56408119..56414507-chr4:56501105..56505595,8	K562	blood:

Variant related genes	Relation type
ENSG00000272969	Chromatin interaction
ENSG00000134852	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10000850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1488937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56156718	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56268402	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62308711	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs62308712	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs62308713	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6823777	0.89[ASN][1000 genomes]
rs9999653	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv998179	chr4:56425126-56694339	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv932636	chr4:56438618-56667329	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879021	chr4:56482750-56648713	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3393088	chr4:56484073-56503988	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3395811	chr4:56486113-56514675	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3406771	chr4:56501220-56503968	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56500800-56502600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
2	chr4:56501000-56503000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:56501200-56503200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr4:56501200-56503200	Enhancers	Spleen	Spleen
5	chr4:56501400-56502200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:56501400-56502200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
7	chr4:56501400-56502200	Enhancers	Pancreas	Pancrea
8	chr4:56501400-56502200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
9	chr4:56501400-56502200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
10	chr4:56501400-56502400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
11	chr4:56501400-56502600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:56501400-56502800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:56501400-56503000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:56501400-56503000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:56501400-56503000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
16	chr4:56501400-56503000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:56501400-56503000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
18	chr4:56501400-56503000	Flanking Bivalent TSS/Enh	Thymus	Thymus
19	chr4:56501400-56503000	Flanking Bivalent TSS/Enh	NH-A	brain
20	chr4:56501400-56503200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:56501400-56503200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr4:56501400-56503400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:56501400-56503400	Bivalent/Poised TSS	Fetal Kidney	kidney
24	chr4:56501400-56503600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr4:56501600-56502200	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:56501600-56502200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:56501600-56502200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:56501600-56502200	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
29	chr4:56501600-56502200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr4:56501600-56502200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
31	chr4:56501600-56502200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
32	chr4:56501600-56502200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr4:56501600-56502200	Flanking Active TSS	HMEC	breast
34	chr4:56501600-56502400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
35	chr4:56501600-56502600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr4:56501600-56502600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:56501600-56502600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
38	chr4:56501600-56502600	Bivalent Enhancer	Fetal Brain Male	brain
39	chr4:56501600-56502600	Active TSS	K562	blood
40	chr4:56501600-56502800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:56501600-56502800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr4:56501600-56502800	Bivalent/Poised TSS	Aorta	Aorta
43	chr4:56501600-56503200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr4:56501600-56503200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
45	chr4:56501600-56503400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr4:56501600-56503600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr4:56501800-56502200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr4:56501800-56502200	Enhancers	Lung	lung
49	chr4:56501800-56502200	Bivalent/Poised TSS	Stomach Mucosa	stomach
50	chr4:56501800-56502200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel

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