Variant report

Variant	rs59791195
Chromosome Location	chr4:124520841-124520842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:124516703..124518266-chr4:124519993..124521900,2	K562	blood:
2	chr4:124315696..124318110-chr4:124519353..124521814,2	MCF-7	breast:
3	chr4:124513485..124516385-chr4:124520416..124522940,2	K562	blood:

Variant related genes	Relation type
ENSG00000164056	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12643847	1.00[ASN][1000 genomes]
rs12644121	1.00[ASN][1000 genomes]
rs12644228	1.00[ASN][1000 genomes]
rs12644620	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12646555	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17006935	1.00[EUR][1000 genomes]
rs17007024	0.80[ASN][1000 genomes]
rs17007051	0.93[ASN][1000 genomes]
rs28827850	1.00[ASN][1000 genomes]
rs57111794	1.00[ASN][1000 genomes]
rs57235450	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57904792	0.89[ASN][1000 genomes]
rs57940178	0.93[ASN][1000 genomes]
rs58280008	1.00[ASN][1000 genomes]
rs58535348	0.85[ASN][1000 genomes]
rs59621223	0.89[ASN][1000 genomes]
rs60096196	0.96[ASN][1000 genomes]
rs60289595	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60795072	0.96[ASN][1000 genomes]
rs6534417	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv879871	chr4:124437842-124527958	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv879872	chr4:124441989-124527958	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124506600-124521200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:124510600-124521200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:124517400-124521200	Weak transcription	Fetal Brain Male	brain
4	chr4:124518200-124521400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:124518200-124522000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:124518200-124522000	Enhancers	HMEC	breast
7	chr4:124518200-124524600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:124518400-124521400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:124518400-124521400	Enhancers	Primary T cells from cord blood	blood
10	chr4:124518400-124521600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:124518600-124521000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:124518600-124522200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:124518800-124523200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr4:124519000-124522600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:124519200-124521400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:124519400-124521200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr4:124519400-124522200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:124519400-124522600	Enhancers	Primary hematopoietic stem cells	blood
19	chr4:124519400-124524200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:124519400-124525200	Enhancers	Fetal Intestine Large	intestine
21	chr4:124519600-124521000	Weak transcription	NHEK	skin
22	chr4:124519600-124521200	Enhancers	Duodenum Mucosa	Duodenum
23	chr4:124519600-124521200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr4:124519600-124521600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:124519600-124522800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:124519600-124525200	Enhancers	Fetal Intestine Small	intestine
27	chr4:124519800-124521600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr4:124519800-124522000	Enhancers	Small Intestine	intestine
29	chr4:124519800-124522200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr4:124519800-124522200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:124519800-124522800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:124520000-124521400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr4:124520000-124521400	Enhancers	Dnd41	blood
34	chr4:124520000-124521400	Enhancers	K562	blood
35	chr4:124520000-124522000	Enhancers	Fetal Thymus	thymus
36	chr4:124520000-124522200	Enhancers	Liver	Liver
37	chr4:124520000-124522400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr4:124520000-124522800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr4:124520000-124523200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr4:124520000-124523200	Enhancers	Stomach Mucosa	stomach
41	chr4:124520200-124521400	Enhancers	Adipose Nuclei	Adipose
42	chr4:124520200-124521600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr4:124520200-124521600	Enhancers	Thymus	Thymus
44	chr4:124520200-124522000	Enhancers	Primary B cells from peripheral blood	blood
45	chr4:124520200-124522000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr4:124520200-124522000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:124520200-124522000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr4:124520200-124522200	Enhancers	Brain Hippocampus Middle	brain
49	chr4:124520200-124522200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr4:124520200-124522400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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