Variant report

Variant	rs72988605
Chromosome Location	chr1:114645563-114645564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114645148..114647343-chr1:114650102..114651737,2	MCF-7	breast:
2	chr1:114638115..114640507-chr1:114642742..114646212,3	K562	blood:
3	chr1:114644124..114646384-chr1:114646866..114650203,3	MCF-7	breast:
4	chr1:114644709..114646503-chr1:114655020..114657132,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1039538	1.00[ASN][1000 genomes]
rs1394074	1.00[ASN][1000 genomes]
rs35061908	1.00[ASN][1000 genomes]
rs41274108	1.00[ASN][1000 genomes]
rs59099346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61013095	1.00[ASN][1000 genomes]
rs61324555	1.00[ASN][1000 genomes]
rs72988610	1.00[ASN][1000 genomes]
rs73003971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73003974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73003979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114630400-114675800	Weak transcription	Pancreas	Pancrea
2	chr1:114632200-114661000	Weak transcription	Brain Germinal Matrix	brain
3	chr1:114633000-114648000	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:114634200-114648400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:114637400-114646200	Weak transcription	HSMMtube	muscle
6	chr1:114637600-114647000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:114637800-114647400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:114637800-114647800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:114638000-114646400	Weak transcription	Brain Anterior Caudate	brain
10	chr1:114638000-114647400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:114638200-114647200	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr1:114638200-114647400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:114638200-114647400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:114638200-114647800	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr1:114639200-114646200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:114639600-114646800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:114640400-114647800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:114640600-114658800	Weak transcription	Fetal Brain Female	brain
19	chr1:114641200-114646000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:114641600-114645600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:114641800-114648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:114642200-114648200	Weak transcription	Fetal Lung	lung
23	chr1:114642600-114648200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:114643200-114645600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:114644200-114647400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:114644400-114647400	Enhancers	Primary hematopoietic stem cells	blood
27	chr1:114644400-114647400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:114644600-114653200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr1:114645000-114648800	Enhancers	Fetal Muscle Leg	muscle

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