Variant report

Variant	rs6417048
Chromosome Location	chr18:9112082-9112083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9111384..9114094-chr18:9134480..9136181,2	MCF-7	breast:
2	chr18:9102513..9104198-chr18:9110210..9112886,3	MCF-7	breast:
3	chr18:9109653..9114484-chr18:9134215..9138699,5	K562	blood:
4	chr18:9109653..9113477-chr18:9134878..9138733,4	K562	blood:
5	chr18:9110356..9113174-chr18:9191057..9192849,2	K562	blood:

Variant related genes	Relation type
ENSG00000266053	Chromatin interaction
ENSG00000265257	Chromatin interaction
ENSG00000178127	Chromatin interaction
ENSG00000101745	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11661711	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12607307	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1472944	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4078337	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4148965	0.85[AFR][1000 genomes]
rs4148966	0.86[ASN][1000 genomes]
rs4148967	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4797356	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4798772	0.84[ASN][1000 genomes]
rs4798776	0.88[EUR][1000 genomes]
rs4798778	0.90[EUR][1000 genomes]
rs56046470	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7504137	0.93[EUR][1000 genomes]
rs7504603	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7505120	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs977581	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9945360	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9947027	0.90[EUR][1000 genomes]
rs9952006	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9966631	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9103400-9113400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:9103400-9113400	Weak transcription	Spleen	Spleen
3	chr18:9103800-9117000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:9104400-9116800	Weak transcription	Esophagus	oesophagus
5	chr18:9104400-9117000	Weak transcription	Lung	lung
6	chr18:9104400-9130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:9104600-9112200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr18:9105000-9112600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr18:9106200-9116800	Weak transcription	Placenta	Placenta
10	chr18:9106200-9117000	Enhancers	Colon Smooth Muscle	Colon
11	chr18:9106200-9123200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr18:9107000-9113200	Weak transcription	HSMMtube	muscle
13	chr18:9107000-9113400	Weak transcription	Fetal Muscle Leg	muscle
14	chr18:9107000-9135200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr18:9107400-9113200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr18:9107400-9116000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr18:9107400-9135400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:9107600-9116400	Weak transcription	HMEC	breast
19	chr18:9107600-9123200	Weak transcription	Thymus	Thymus
20	chr18:9107800-9114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr18:9107800-9116800	Enhancers	Primary B cells from peripheral blood	blood
22	chr18:9107800-9116800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr18:9107800-9134600	Weak transcription	Fetal Brain Male	brain
24	chr18:9108000-9113400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr18:9108000-9114800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr18:9108000-9116600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr18:9108000-9117400	Weak transcription	Fetal Kidney	kidney
28	chr18:9108200-9123000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr18:9108200-9127200	Weak transcription	Fetal Brain Female	brain
30	chr18:9108600-9114000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr18:9109200-9113200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr18:9109200-9113400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr18:9109200-9116800	Weak transcription	Gastric	stomach
34	chr18:9109600-9112200	Strong transcription	Dnd41	blood
35	chr18:9109600-9117000	Weak transcription	Brain Germinal Matrix	brain
36	chr18:9109600-9117400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr18:9109600-9123200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr18:9109800-9112600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr18:9109800-9113000	Weak transcription	Brain Angular Gyrus	brain
40	chr18:9109800-9113000	Strong transcription	K562	blood
41	chr18:9109800-9113200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr18:9109800-9115000	Weak transcription	HUVEC	blood vessel
43	chr18:9110000-9113200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr18:9110000-9113400	Weak transcription	NHEK	skin
45	chr18:9110000-9116600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr18:9110200-9112400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr18:9110200-9112800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr18:9110200-9113400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr18:9110200-9116000	Weak transcription	NH-A	brain
50	chr18:9110200-9117400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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