Variant report

Variant	rs9946235
Chromosome Location	chr18:9577556-9577557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9577244..9580030-chr18:9613761..9615940,2	K562	blood:
2	chr18:9575405..9579354-chr18:9587737..9592465,5	K562	blood:
3	chr18:9566461..9572065-chr18:9572620..9578759,7	K562	blood:
4	chr18:9577107..9580030-chr18:9614020..9615940,2	K562	blood:
5	chr18:9566461..9572540-chr18:9573224..9580743,8	K562	blood:
6	chr18:9577278..9579746-chr18:9582108..9585693,4	K562	blood:

Variant related genes	Relation type
ENSG00000263627	Chromatin interaction
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10451359	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11081484	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11874827	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12458145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13381718	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306134	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28366801	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28838295	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28879133	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3826562	0.99[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3898762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56817979	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57356844	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58359806	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60220573	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7231313	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7233002	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7239271	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs745218	0.81[AMR][1000 genomes]
rs8085047	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9304040	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9945701	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9946612	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9948831	0.87[AMR][1000 genomes]
rs9949507	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9951382	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9961558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9965762	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv543644	chr18:9576145-9612516	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9545800-9583600	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr18:9545800-9595200	Strong transcription	Dnd41	blood
3	chr18:9549600-9581800	Weak transcription	Psoas Muscle	Psoas
4	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr18:9553800-9582000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:9554400-9578400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr18:9555400-9580600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:9558000-9580600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:9559000-9586800	Weak transcription	Small Intestine	intestine
11	chr18:9559600-9580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:9559600-9587000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr18:9560200-9577600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:9560400-9577600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:9563000-9581600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr18:9563200-9580600	Weak transcription	Aorta	Aorta
17	chr18:9563600-9580600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr18:9563600-9591600	Weak transcription	Colonic Mucosa	Colon
19	chr18:9563600-9594800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr18:9564200-9579600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr18:9565000-9579400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr18:9565200-9594200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:9565600-9578000	Strong transcription	Placenta	Placenta
24	chr18:9566400-9577600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:9566800-9592600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr18:9566800-9594600	Strong transcription	HSMM	muscle
27	chr18:9567200-9577800	Strong transcription	NHEK	skin
28	chr18:9568600-9587600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr18:9569200-9578200	Weak transcription	Gastric	stomach
30	chr18:9569800-9582400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr18:9570400-9594400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr18:9570600-9580600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr18:9570600-9580600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr18:9570600-9580800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr18:9570600-9580800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr18:9570600-9580800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr18:9570800-9579400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr18:9571800-9579400	Weak transcription	Right Ventricle	heart
39	chr18:9572000-9580800	Weak transcription	GM12878-XiMat	blood
40	chr18:9572200-9580600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr18:9572200-9580600	Weak transcription	Brain Anterior Caudate	brain
42	chr18:9572200-9580600	Weak transcription	Esophagus	oesophagus
43	chr18:9572200-9581600	Weak transcription	Fetal Brain Male	brain
44	chr18:9572200-9587400	Weak transcription	Ovary	ovary
45	chr18:9572400-9580400	Weak transcription	Primary T cells from cord blood	blood
46	chr18:9572600-9580800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr18:9572800-9580400	Weak transcription	Thymus	Thymus
48	chr18:9574600-9578000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr18:9574600-9581800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr18:9575000-9578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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