Variant report

Variant	rs62310222
Chromosome Location	chr4:57411178-57411179
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	chr4:57331872..57334097-chr4:57409955..57412226,2	K562	blood:
2	chr4:57334260..57336507-chr4:57410772..57412509,2	K562	blood:
3	chr4:57410799..57412740-chr4:57416977..57418693,2	MCF-7	breast:
4	chr4:57253237..57254163-chr4:57410431..57411376,2	MCF-7	breast:
5	chr4:57410442..57411299-chr4:57666045..57666637,6	MCF-7	breast:
6	chr4:57334099..57335760-chr4:57411009..57413881,2	K562	blood:
7	chr4:57290763..57291840-chr4:57410409..57411390,5	MCF-7	breast:
8	chr4:57290999..57291716-chr4:57410618..57411327,2	MCF-7	breast:
9	chr4:57333418..57334384-chr4:57410683..57411353,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157426	Chromatin interaction
ENSG00000174780	Chromatin interaction
ENSG00000269921	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12642524	0.81[EUR][1000 genomes]
rs4311366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4473708	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4623083	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4631106	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61492226	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62310214	0.80[EUR][1000 genomes]
rs62310215	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62310216	0.81[EUR][1000 genomes]
rs62310217	0.81[EUR][1000 genomes]
rs62310218	0.81[EUR][1000 genomes]
rs62310220	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62310223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57410400-57411200	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr4:57410400-57411400	Enhancers	Brain Substantia Nigra	brain
3	chr4:57410600-57411200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:57410600-57411200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr4:57410600-57411200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr4:57410600-57411200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr4:57410600-57411200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:57410600-57411200	Active TSS	Brain Angular Gyrus	brain
9	chr4:57410600-57411200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr4:57410600-57411200	Active TSS	HepG2	liver
11	chr4:57410600-57411400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr4:57410600-57411400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:57410600-57411400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:57410600-57411400	Enhancers	Liver	Liver
15	chr4:57410600-57411400	Active TSS	Brain Anterior Caudate	brain
16	chr4:57410600-57411400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
17	chr4:57410600-57411400	Active TSS	Ovary	ovary
18	chr4:57410600-57411400	Active TSS	A549	lung
19	chr4:57410600-57411400	Active TSS	Hela-S3	cervix
20	chr4:57410800-57411200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr4:57410800-57411200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:57410800-57411200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr4:57410800-57411200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:57410800-57411200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
25	chr4:57410800-57411200	Enhancers	Primary B cells from cord blood	blood
26	chr4:57410800-57411200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr4:57410800-57411200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:57410800-57411200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr4:57410800-57411200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:57410800-57411200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr4:57410800-57411200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:57410800-57411200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:57410800-57411200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:57410800-57411200	Active TSS	Brain Cingulate Gyrus	brain
35	chr4:57410800-57411200	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr4:57410800-57411200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:57410800-57411200	Active TSS	Colonic Mucosa	Colon
38	chr4:57410800-57411200	Enhancers	Fetal Brain Male	brain
39	chr4:57410800-57411200	Active TSS	Fetal Kidney	kidney
40	chr4:57410800-57411200	Enhancers	Lung	lung
41	chr4:57410800-57411200	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr4:57410800-57411200	Active TSS	Right Atrium	heart
43	chr4:57410800-57411200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr4:57410800-57411200	Flanking Active TSS	Thymus	Thymus
45	chr4:57410800-57411200	Flanking Active TSS	HSMM	muscle
46	chr4:57410800-57411400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr4:57410800-57411400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:57410800-57411400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:57410800-57411400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr4:57410800-57411400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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