Variant report

Variant	rs4631106
Chromosome Location	chr4:57410682-57410683
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:57331872..57334097-chr4:57409955..57412226,2	K562	blood:
2	chr4:57403751..57405504-chr4:57409367..57410934,2	MCF-7	breast:
3	chr4:57404387..57407422-chr4:57408370..57410710,3	K562	blood:
4	chr4:57253237..57254163-chr4:57410431..57411376,2	MCF-7	breast:
5	chr4:57410442..57411299-chr4:57666045..57666637,6	MCF-7	breast:
6	chr4:57300340..57303210-chr4:57409200..57410900,2	MCF-7	breast:
7	chr4:57290763..57291840-chr4:57410409..57411390,5	MCF-7	breast:
8	chr4:57395510..57398242-chr4:57409161..57410740,2	K562	blood:
9	chr4:57290999..57291716-chr4:57410618..57411327,2	MCF-7	breast:
10	chr4:57301315..57304319-chr4:57408879..57411014,4	K562	blood:
11	chr4:57301315..57303904-chr4:57409260..57411014,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249693	Chromatin interaction
ENSG00000269921	Chromatin interaction
ENSG00000128059	Chromatin interaction
ENSG00000128050	Chromatin interaction
ENSG00000157426	Chromatin interaction
ENSG00000174780	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10428296	0.81[CHB][hapmap]
rs11934636	0.83[JPT][hapmap]
rs12642524	0.81[EUR][1000 genomes]
rs12644498	0.84[JPT][hapmap]
rs12650288	0.83[JPT][hapmap]
rs1579019	0.83[JPT][hapmap]
rs17086801	0.84[JPT][hapmap]
rs17086804	0.83[JPT][hapmap]
rs17086830	0.83[JPT][hapmap]
rs17086838	0.84[JPT][hapmap]
rs3796550	0.83[JPT][hapmap]
rs4076103	0.84[JPT][hapmap]
rs4128534	0.92[JPT][hapmap]
rs4311366	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4473708	0.93[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4623083	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61492226	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62310214	0.80[EUR][1000 genomes]
rs62310215	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62310216	0.81[EUR][1000 genomes]
rs62310217	0.81[EUR][1000 genomes]
rs62310218	0.81[EUR][1000 genomes]
rs62310220	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62310222	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62310223	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6830145	0.84[JPT][hapmap]

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	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv829941	chr4:57359551-57553136	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57399400-57410800	Weak transcription	K562	blood
2	chr4:57404600-57411000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:57407200-57411000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:57408000-57410800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:57408400-57410800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:57408600-57410800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:57410200-57410800	Enhancers	Right Ventricle	heart
8	chr4:57410400-57410800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:57410400-57410800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr4:57410400-57410800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr4:57410400-57410800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:57410400-57410800	Enhancers	Brain Hippocampus Middle	brain
13	chr4:57410400-57411200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr4:57410400-57411400	Enhancers	Brain Substantia Nigra	brain
15	chr4:57410600-57410800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:57410600-57410800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:57410600-57410800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
18	chr4:57410600-57410800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:57410600-57410800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
20	chr4:57410600-57410800	Enhancers	Primary hematopoietic stem cells	blood
21	chr4:57410600-57410800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:57410600-57410800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:57410600-57410800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr4:57410600-57410800	Enhancers	Duodenum Mucosa	Duodenum
25	chr4:57410600-57410800	Enhancers	Fetal Kidney	kidney
26	chr4:57410600-57410800	Enhancers	Rectal Smooth Muscle	rectum
27	chr4:57410600-57410800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr4:57410600-57410800	Active TSS	Thymus	Thymus
29	chr4:57410600-57410800	Flanking Active TSS	GM12878-XiMat	blood
30	chr4:57410600-57410800	Enhancers	HSMMtube	muscle
31	chr4:57410600-57410800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr4:57410600-57411000	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr4:57410600-57411000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr4:57410600-57411000	Active TSS	Muscle Satellite Cultured Cells	--
35	chr4:57410600-57411000	Enhancers	Adipose Nuclei	Adipose
36	chr4:57410600-57411000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr4:57410600-57411000	Enhancers	Colon Smooth Muscle	Colon
38	chr4:57410600-57411000	Active TSS	Fetal Intestine Large	intestine
39	chr4:57410600-57411000	Active TSS	Fetal Lung	lung
40	chr4:57410600-57411000	Active TSS	NH-A	brain
41	chr4:57410600-57411000	Bivalent/Poised TSS	Osteobl	bone
42	chr4:57410600-57411200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:57410600-57411200	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr4:57410600-57411200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr4:57410600-57411200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr4:57410600-57411200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr4:57410600-57411200	Active TSS	Brain Angular Gyrus	brain
48	chr4:57410600-57411200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr4:57410600-57411200	Active TSS	HepG2	liver
50	chr4:57410600-57411400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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