Variant report

Variant	rs72952681
Chromosome Location	chr1:85717538-85717539
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: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	chr1:85412729..85414874-chr1:85716251..85718921,2	MCF-7	breast:
2	chr1:85660381..85662955-chr1:85716611..85718297,2	K562	blood:
3	chr1:85664645..85668633-chr1:85715062..85719068,6	K562	blood:
4	chr1:85689750..85692180-chr1:85716712..85719328,3	K562	blood:
5	chr1:85665862..85668406-chr1:85717337..85721065,4	MCF-7	breast:
6	chr1:85716134..85717775-chr22:19949405..19952183,2	MCF-7	breast:
7	chr1:85717103..85719849-chr1:86048181..86049791,2	K562	blood:
8	chr1:85712540..85714788-chr1:85715420..85717609,2	K562	blood:
9	chr1:85716330..85718015-chr1:85741774..85743352,2	MCF-7	breast:
10	chr1:85689750..85691517-chr1:85716712..85719328,2	K562	blood:
11	chr1:85708208..85712302-chr1:85713167..85718221,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265087	Chromatin interaction
ENSG00000093010	Chromatin interaction
ENSG00000223653	Chromatin interaction
ENSG00000097096	Chromatin interaction
ENSG00000142867	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11161568	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1554596	1.00[EUR][1000 genomes]
rs17121967	1.00[EUR][1000 genomes]
rs58278399	1.00[EUR][1000 genomes]
rs59078755	1.00[EUR][1000 genomes]
rs61753571	1.00[EUR][1000 genomes]
rs61753572	1.00[EUR][1000 genomes]
rs6656799	1.00[EUR][1000 genomes]
rs6670564	1.00[EUR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85706800-85718400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:85707000-85719400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:85707000-85719600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:85707000-85721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:85707000-85722800	Weak transcription	HepG2	liver
6	chr1:85707000-85723000	Weak transcription	Stomach Mucosa	stomach
7	chr1:85707800-85724400	Weak transcription	Lung	lung
8	chr1:85709800-85724200	Weak transcription	Colonic Mucosa	Colon
9	chr1:85710400-85721400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:85710400-85724000	Weak transcription	Ovary	ovary
11	chr1:85710400-85724000	Weak transcription	Right Ventricle	heart
12	chr1:85710600-85719800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:85710600-85722600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:85710600-85723800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:85710800-85718200	Weak transcription	Psoas Muscle	Psoas
16	chr1:85710800-85724000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:85710800-85724200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:85710800-85724400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:85710800-85724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:85711400-85718200	Weak transcription	Hela-S3	cervix
21	chr1:85711400-85719800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:85711600-85723800	Weak transcription	HSMMtube	muscle
23	chr1:85711800-85719600	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:85711800-85719800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:85712000-85723000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:85712000-85723000	Weak transcription	NHLF	lung
27	chr1:85712200-85722800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:85712200-85724000	Weak transcription	Fetal Stomach	stomach
29	chr1:85713000-85722800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:85713200-85724000	Weak transcription	Thymus	Thymus
31	chr1:85714000-85718200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:85714000-85719200	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:85714400-85719600	Weak transcription	A549	lung
34	chr1:85714400-85721400	Weak transcription	Brain Anterior Caudate	brain
35	chr1:85714600-85724200	Weak transcription	Gastric	stomach
36	chr1:85714800-85720400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:85714800-85723400	Weak transcription	Fetal Brain Male	brain
38	chr1:85715000-85721200	Weak transcription	Fetal Intestine Small	intestine
39	chr1:85715000-85722600	Weak transcription	Brain Germinal Matrix	brain
40	chr1:85715000-85724200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:85715200-85721400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:85715200-85724200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:85715400-85717600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:85715600-85717800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:85715600-85718200	Strong transcription	Primary B cells from cord blood	blood
46	chr1:85715600-85719000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr1:85715600-85719400	Weak transcription	GM12878-XiMat	blood
48	chr1:85715800-85718200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:85715800-85718600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:85715800-85719400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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