Variant report

Variant	rs1447994
Chromosome Location	chr4:87888054-87888055
allele	C/T
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	chr4:87875765..87890159-chr4:87922878..87933002,25	K562	blood:
2	chr4:87881889..87884650-chr4:87886335..87888542,3	K562	blood:
3	chr4:87885535..87895894-chr4:87923652..87929924,15	K562	blood:
4	chr4:87876506..87878557-chr4:87886269..87888945,2	K562	blood:
5	chr4:87856231..87859269-chr4:87886657..87889990,3	K562	blood:
6	chr4:87881072..87882876-chr4:87886883..87888744,2	MCF-7	breast:
7	chr4:87881202..87884789-chr4:87884979..87890767,11	K562	blood:
8	chr4:87887515..87891253-chr4:87896887..87898835,3	MCF-7	breast:
9	chr4:87887576..87890544-chr4:87927367..87929532,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163633	Chromatin interaction
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10015639	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10516786	0.84[EUR][1000 genomes]
rs17012170	0.83[EUR][1000 genomes]
rs17012200	0.86[EUR][1000 genomes]
rs17012213	0.86[EUR][1000 genomes]
rs17012216	0.86[EUR][1000 genomes]
rs17751427	0.80[EUR][1000 genomes]
rs17751557	0.81[EUR][1000 genomes]
rs2053769	0.81[ASN][1000 genomes]
rs2053771	0.83[EUR][1000 genomes]
rs28495007	0.81[ASN][1000 genomes]
rs4693153	0.81[EUR][1000 genomes]
rs4693154	0.81[EUR][1000 genomes]
rs4693795	0.85[EUR][1000 genomes]
rs4693796	0.85[ASN][1000 genomes]
rs55831707	0.81[EUR][1000 genomes]
rs55851914	0.86[EUR][1000 genomes]
rs58822039	0.86[ASN][1000 genomes]
rs60518843	0.87[ASN][1000 genomes]
rs61651372	0.81[EUR][1000 genomes]
rs6531941	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72667716	0.81[EUR][1000 genomes]
rs72667721	0.81[EUR][1000 genomes]
rs72667724	0.81[EUR][1000 genomes]
rs72667727	0.82[EUR][1000 genomes]
rs72667735	0.86[EUR][1000 genomes]
rs72667736	0.86[EUR][1000 genomes]
rs72667737	0.86[EUR][1000 genomes]
rs72667739	0.86[EUR][1000 genomes]
rs72667741	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv291773	chr4:87884343-87891031	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87868400-87891800	Weak transcription	Esophagus	oesophagus
2	chr4:87868600-87898000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:87869800-87894000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:87872600-87926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:87872800-87891400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:87878800-87891600	Weak transcription	NHEK	skin
7	chr4:87881000-87891800	Weak transcription	Lung	lung
8	chr4:87881000-87897600	Weak transcription	Brain Angular Gyrus	brain
9	chr4:87881200-87890000	Weak transcription	Aorta	Aorta
10	chr4:87882000-87888200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:87882000-87895400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:87882200-87889800	Weak transcription	Pancreas	Pancrea
13	chr4:87882200-87891400	Weak transcription	Ovary	ovary
14	chr4:87882200-87895600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:87882400-87893800	Weak transcription	Colonic Mucosa	Colon
16	chr4:87882400-87898600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:87882600-87891400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:87882600-87920200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:87882800-87888200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:87882800-87888200	Weak transcription	Right Ventricle	heart
21	chr4:87882800-87889600	Weak transcription	Small Intestine	intestine
22	chr4:87882800-87891600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:87882800-87912400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:87883000-87889200	Weak transcription	Left Ventricle	heart
25	chr4:87883000-87889800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:87883000-87889800	Weak transcription	Psoas Muscle	Psoas
27	chr4:87883000-87891800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:87883200-87889200	Weak transcription	Adipose Nuclei	Adipose
29	chr4:87883400-87889600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:87883800-87890600	Enhancers	Fetal Thymus	thymus
31	chr4:87883800-87891800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:87883800-87891800	Weak transcription	Fetal Intestine Large	intestine
33	chr4:87883800-87894200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:87884200-87893800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:87884200-87894000	Weak transcription	Fetal Intestine Small	intestine
36	chr4:87885000-87891400	Weak transcription	Stomach Mucosa	stomach
37	chr4:87885000-87891800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:87885000-87894200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:87885000-87894200	Weak transcription	HMEC	breast
40	chr4:87885400-87889800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:87885800-87888200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:87885800-87889800	Enhancers	K562	blood
43	chr4:87885800-87890000	Enhancers	Primary B cells from cord blood	blood
44	chr4:87885800-87890200	Enhancers	Primary B cells from peripheral blood	blood
45	chr4:87885800-87890600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr4:87886000-87888200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr4:87886000-87888600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr4:87886000-87889200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr4:87886000-87889800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr4:87886000-87889800	Enhancers	Primary monocytes fromperipheralblood	blood

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