Variant report

Variant	rs72747468
Chromosome Location	chr9:96442385-96442386
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:96420113..96421797-chr9:96439753..96442737,2	MCF-7	breast:
2	chr9:96338337..96340643-chr9:96441518..96443236,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197724	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10115715	0.90[EUR][1000 genomes]
rs10117599	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10121780	0.90[EUR][1000 genomes]
rs10821205	0.87[ASN][1000 genomes]
rs10992817	0.90[EUR][1000 genomes]
rs10992818	0.90[EUR][1000 genomes]
rs10992820	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992843	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10992873	0.87[ASN][1000 genomes]
rs1132003	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12335855	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12341126	0.90[EUR][1000 genomes]
rs12341865	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12348927	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12349481	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12350966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12351976	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12352026	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13440078	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13440115	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2001316	0.90[EUR][1000 genomes]
rs2001995	0.90[EUR][1000 genomes]
rs35137913	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3750364	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41276198	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41276204	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4390004	0.87[ASN][1000 genomes]
rs55682342	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7023609	0.97[ASN][1000 genomes]
rs72747414	0.90[EUR][1000 genomes]
rs72747430	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72747446	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72747448	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72747451	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72747474	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72747481	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72747487	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7863264	0.87[ASN][1000 genomes]
rs7869847	0.90[EUR][1000 genomes]
rs9695734	0.90[EUR][1000 genomes];0.85[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	nsv893586	chr9:96363859-96493773	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1036609	chr9:96375217-96477641	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv893587	chr9:96383605-96451784	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96412600-96442800	Weak transcription	NHDF-Ad	bronchial
2	chr9:96412600-96445000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:96412800-96442800	Weak transcription	HMEC	breast
4	chr9:96412800-96443600	Weak transcription	Stomach Mucosa	stomach
5	chr9:96413000-96444800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr9:96416400-96443400	Weak transcription	HepG2	liver
7	chr9:96434600-96442400	Strong transcription	Fetal Intestine Small	intestine
8	chr9:96434600-96443200	Strong transcription	Fetal Stomach	stomach
9	chr9:96434800-96442400	Strong transcription	Placenta	Placenta
10	chr9:96435000-96442400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:96435000-96442400	Strong transcription	Thymus	Thymus
12	chr9:96435000-96442600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr9:96435000-96442800	Strong transcription	Fetal Muscle Leg	muscle
14	chr9:96435200-96442400	Strong transcription	Brain Germinal Matrix	brain
15	chr9:96435200-96442600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr9:96435200-96442800	Strong transcription	Fetal Brain Female	brain
17	chr9:96435600-96442400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:96436600-96442600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr9:96436600-96443800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr9:96436800-96447000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr9:96437600-96442600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:96437600-96442600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr9:96437800-96444800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr9:96438800-96443800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:96439600-96443200	Weak transcription	Psoas Muscle	Psoas
26	chr9:96439600-96444800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr9:96439800-96442400	Weak transcription	Aorta	Aorta
28	chr9:96439800-96444800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr9:96439800-96444800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:96440000-96442400	Weak transcription	NHEK	skin
31	chr9:96440200-96444400	Weak transcription	A549	lung
32	chr9:96440400-96442400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:96440400-96442400	Weak transcription	Osteobl	bone
34	chr9:96440400-96443000	Weak transcription	HSMMtube	muscle
35	chr9:96440400-96444000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr9:96440400-96444200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:96440400-96444400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:96440400-96444800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:96440600-96442400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr9:96440600-96442400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:96440600-96442400	Weak transcription	Brain Hippocampus Middle	brain
42	chr9:96440600-96442400	Weak transcription	Brain Substantia Nigra	brain
43	chr9:96440600-96442600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:96440600-96443400	Weak transcription	Small Intestine	intestine
45	chr9:96440600-96443800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr9:96440600-96444000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:96440600-96444400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr9:96440600-96444600	Weak transcription	Fetal Lung	lung
49	chr9:96440600-96444800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr9:96440600-96447600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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