Variant report

Variant	rs1277284
Chromosome Location	chr4:57855361-57855362
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:57855342-57855529	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57841254..57846591-chr4:57852896..57857451,6	MCF-7	breast:
2	chr4:57854152..57858062-chr4:57860294..57862898,3	K562	blood:

Variant related genes	Relation type
ENSG00000238579	TF binding region
ENSG00000047315	Chromatin interaction
ENSG00000084092	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11133470	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12621	0.92[CEU][hapmap]
rs1277308	0.92[CEU][hapmap]
rs1277311	0.86[CHB][hapmap]
rs1403233	0.92[CEU][hapmap];0.82[YRI][hapmap]
rs1713997	0.96[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1718831	0.92[CEU][hapmap];0.82[YRI][hapmap]
rs1718839	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs1718882	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1718886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293175	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2412772	1.00[JPT][hapmap]
rs2948348	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34576794	0.83[EUR][1000 genomes]
rs35982175	0.83[ASN][1000 genomes]
rs3796531	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs6841086	0.82[CHB][hapmap]
rs6843644	0.92[CEU][hapmap]
rs7668814	0.95[JPT][hapmap]
rs781665	0.83[EUR][1000 genomes]
rs781666	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs781668	0.88[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv1799567	chr4:57853485-57857771	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57846000-57855600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:57846000-57881000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:57846200-57861600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:57846200-57861800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:57846600-57861200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:57846800-57900000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:57847000-57861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:57847600-57856000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:57848000-57861400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:57848400-57860800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:57848400-57875200	Weak transcription	Stomach Mucosa	stomach
12	chr4:57848600-57900000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:57849000-57900000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:57849200-57869000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr4:57849200-57886200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:57849400-57857600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:57849600-57884600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:57849800-57857000	Strong transcription	Fetal Intestine Small	intestine
19	chr4:57849800-57861400	Weak transcription	Psoas Muscle	Psoas
20	chr4:57850000-57855800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:57850400-57856000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr4:57850400-57858200	Strong transcription	Primary B cells from cord blood	blood
23	chr4:57850400-57858600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:57850600-57855400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:57850600-57855600	Strong transcription	NH-A	brain
26	chr4:57850600-57870200	Strong transcription	GM12878-XiMat	blood
27	chr4:57850600-57899400	Strong transcription	Fetal Thymus	thymus
28	chr4:57850800-57859400	Strong transcription	Fetal Stomach	stomach
29	chr4:57850800-57899400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:57851000-57860600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:57851000-57861200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:57851000-57899200	Strong transcription	Primary T cells from cord blood	blood
33	chr4:57851000-57899400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr4:57851200-57858400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:57851200-57859200	Strong transcription	Fetal Muscle Leg	muscle
36	chr4:57851200-57897200	Strong transcription	Fetal Intestine Large	intestine
37	chr4:57851400-57858200	Strong transcription	Thymus	Thymus
38	chr4:57851400-57894800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:57851600-57857400	Strong transcription	HepG2	liver
40	chr4:57851600-57859400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:57851600-57859800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr4:57851600-57861400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:57851600-57861400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:57851600-57864400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr4:57851600-57899400	Strong transcription	Placenta	Placenta
46	chr4:57851800-57855600	Strong transcription	Left Ventricle	heart
47	chr4:57851800-57856600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:57851800-57857200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:57851800-57857800	Strong transcription	Brain Anterior Caudate	brain
50	chr4:57851800-57858000	Strong transcription	Colon Smooth Muscle	Colon

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