Variant report

Variant	rs72988610
Chromosome Location	chr1:114648332-114648333
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	chr1:114618845..114623942-chr1:114646339..114650725,5	K562	blood:
2	chr1:114644124..114646384-chr1:114646866..114650203,3	MCF-7	breast:
3	chr1:114647802..114648660-chr16:67189250..67189815,2	MCF-7	breast:
4	chr1:114633144..114634920-chr1:114648218..114649973,2	MCF-7	breast:
5	chr1:114639770..114642014-chr1:114646788..114648419,2	MCF-7	breast:
6	chr1:114647200..114648760-chr1:114757392..114758723,8	MCF-7	breast:
7	chr1:114640429..114643571-chr1:114646249..114649896,5	MCF-7	breast:
8	chr1:114623443..114625086-chr1:114646378..114649376,2	MCF-7	breast:
9	chr1:114647535..114648527-chr1:114825432..114826014,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000102871	Chromatin interaction

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[ASN][1000 genomes]
rs61013095	1.00[ASN][1000 genomes]
rs61324555	1.00[ASN][1000 genomes]
rs72988605	1.00[ASN][1000 genomes]
rs73003971	1.00[ASN][1000 genomes]
rs73003974	1.00[ASN][1000 genomes]
rs73003979	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:40 , 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	chr1:114634200-114648400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:114640600-114658800	Weak transcription	Fetal Brain Female	brain
5	chr1:114644600-114653200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:114645000-114648800	Enhancers	Fetal Muscle Leg	muscle
7	chr1:114646200-114648600	Enhancers	HSMMtube	muscle
8	chr1:114646400-114651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:114646800-114649000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:114647000-114648400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:114647200-114650600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:114647200-114650600	Weak transcription	Psoas Muscle	Psoas
13	chr1:114647200-114651000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:114647400-114649600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:114647400-114649800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:114647400-114650000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:114647400-114650200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:114647600-114651000	Enhancers	Fetal Muscle Trunk	muscle
19	chr1:114647800-114648600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:114647800-114648800	Enhancers	Fetal Stomach	stomach
21	chr1:114647800-114649200	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:114647800-114649400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:114647800-114650200	Genic enhancers	H1 Cell Line	embryonic stem cell
24	chr1:114647800-114650200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:114647800-114651000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:114647800-114652000	Enhancers	Fetal Intestine Large	intestine
27	chr1:114648000-114648400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:114648000-114648800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:114648000-114649000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:114648000-114652000	Enhancers	Fetal Intestine Small	intestine
31	chr1:114648000-114655600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:114648200-114648400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:114648200-114648600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr1:114648200-114648600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:114648200-114648600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr1:114648200-114648800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:114648200-114648800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:114648200-114648800	Enhancers	Fetal Lung	lung
39	chr1:114648200-114649000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:114648200-114649200	Genic enhancers	H9 Cell Line	embryonic stem cell

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