Variant report

Variant	rs71607401
Chromosome Location	chr4:78086573-78086574
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78079940..78081963-chr4:78084829..78086781,2	K562	blood:
2	chr4:78077999..78082390-chr4:78082423..78088631,8	K562	blood:
3	chr4:77996123..77998624-chr4:78085354..78087615,2	MCF-7	breast:
4	chr4:78085870..78089937-chr4:78095551..78099001,4	MCF-7	breast:
5	chr4:78078183..78079832-chr4:78085047..78086924,2	K562	blood:

Variant related genes	Relation type
ENSG00000118816	Chromatin interaction
ENSG00000138764	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs13108325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13115931	0.93[EUR][1000 genomes]
rs13134753	0.87[ASN][1000 genomes]
rs17397736	0.93[EUR][1000 genomes]
rs17397972	0.93[EUR][1000 genomes]
rs17398028	0.93[EUR][1000 genomes]
rs34171188	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34623364	0.93[EUR][1000 genomes]
rs34757592	0.93[EUR][1000 genomes]
rs34820788	1.00[ASN][1000 genomes]
rs35974904	0.93[ASN][1000 genomes]
rs36045205	0.93[EUR][1000 genomes]
rs4150031	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150044	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150052	1.00[ASN][1000 genomes]
rs4150067	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150084	1.00[ASN][1000 genomes]
rs4150090	1.00[ASN][1000 genomes]
rs59493111	0.86[ASN][1000 genomes]
rs6816591	0.93[EUR][1000 genomes]
rs6822060	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71609303	1.00[ASN][1000 genomes]
rs729239	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs729241	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7655142	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7657629	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7659891	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879500	chr4:78045960-78115334	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78080000-78086800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:78080000-78087400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:78080000-78089800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:78080000-78092800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:78080000-78093400	Weak transcription	Right Ventricle	heart
6	chr4:78080200-78086800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr4:78080200-78089800	Weak transcription	Aorta	Aorta
8	chr4:78080200-78094400	Weak transcription	Psoas Muscle	Psoas
9	chr4:78080400-78088000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:78080400-78088600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:78080400-78089000	Strong transcription	NHDF-Ad	bronchial
12	chr4:78080400-78090800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:78080400-78091400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:78080400-78092400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr4:78080600-78088200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:78080600-78089600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:78080600-78091800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:78080600-78091800	Strong transcription	Osteobl	bone
19	chr4:78080800-78089400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr4:78080800-78089800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:78080800-78091000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:78080800-78091400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:78080800-78092400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:78081000-78090600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr4:78081200-78087200	Genic enhancers	Primary B cells from cord blood	blood
26	chr4:78081200-78089800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr4:78081200-78092000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr4:78081200-78092200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:78081200-78092400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:78081200-78092400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:78081200-78092400	Strong transcription	Placenta	Placenta
32	chr4:78081200-78092400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr4:78081200-78092600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:78081200-78092600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr4:78081200-78093000	Strong transcription	Primary hematopoietic stem cells	blood
36	chr4:78081200-78093600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:78081400-78092600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr4:78081600-78090200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:78081800-78087400	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr4:78081800-78089400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:78081800-78091000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:78081800-78091800	Strong transcription	Adipose Nuclei	Adipose
43	chr4:78081800-78092400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:78082000-78089600	Strong transcription	Liver	Liver
45	chr4:78082000-78090000	Strong transcription	Fetal Muscle Leg	muscle
46	chr4:78082200-78088800	Genic enhancers	Brain Germinal Matrix	brain
47	chr4:78082200-78092000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr4:78082400-78087400	Strong transcription	Hela-S3	cervix
49	chr4:78082400-78087600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:78082400-78088800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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