Variant report

Variant	rs4797608
Chromosome Location	chr18:12039351-12039352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11732649..11733675-chr18:12038633..12039652,5	MCF-7	breast:
2	chr18:11655388..11656100-chr18:12038645..12039575,5	K562	blood:
3	chr18:11937505..11938532-chr18:12038635..12039615,5	MCF-7	breast:
4	chr18:11992964..11995381-chr18:12038056..12040567,2	MCF-7	breast:
5	chr18:11654951..11655937-chr18:12038618..12039570,4	MCF-7	breast:
6	chr18:11732574..11733777-chr18:12038625..12039612,8	K562	blood:
7	chr18:11937557..11938334-chr18:12038177..12039385,5	K562	blood:

Variant related genes	Relation type
ENSG00000266955	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1662608	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1787982	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2165855	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2849394	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2849395	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2849396	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2849397	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2849398	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2849399	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2851911	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2851912	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2851913	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2851914	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2851918	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4291976	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4580259	0.96[ASN][1000 genomes]
rs4580260	0.81[ASN][1000 genomes]
rs4797609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4797610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4797611	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582959	0.91[ASN][1000 genomes]
rs591447	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs622443	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs627965	0.90[ASN][1000 genomes]
rs630110	0.92[ASN][1000 genomes]
rs639876	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs639966	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs640340	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs642585	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6505709	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs655651	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs657476	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8090265	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv909391	chr18:11989416-12146408	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv909392	chr18:11989416-12146698	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv909393	chr18:12001258-12155371	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv909394	chr18:12017343-12141372	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr18:12036400-12039400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:12038200-12039400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr18:12038200-12039400	Active TSS	Fetal Brain Female	brain
4	chr18:12038200-12039400	Enhancers	Fetal Heart	heart
5	chr18:12038200-12039400	Active TSS	Rectal Smooth Muscle	rectum
6	chr18:12038200-12039400	Enhancers	Spleen	Spleen
7	chr18:12038400-12039400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr18:12038600-12039400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr18:12038600-12039400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr18:12038600-12039400	Active TSS	Brain Cingulate Gyrus	brain
11	chr18:12038800-12039400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr18:12038800-12039400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:12038800-12039400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr18:12038800-12039400	Active TSS	A549	lung
15	chr18:12039000-12039400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr18:12039000-12039400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr18:12039000-12039400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr18:12039000-12039400	Flanking Active TSS	NH-A	brain
19	chr18:12039200-12039400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr18:12039200-12039400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
21	chr18:12039200-12039400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:12039200-12039400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:12039200-12039400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr18:12039200-12039400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr18:12039200-12039400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr18:12039200-12039400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr18:12039200-12039400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr18:12039200-12039400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:12039200-12039400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr18:12039200-12039400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr18:12039200-12039400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:12039200-12039400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr18:12039200-12039400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr18:12039200-12039400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr18:12039200-12039400	Enhancers	Primary B cells from cord blood	blood
36	chr18:12039200-12039400	Enhancers	Primary B cells from peripheral blood	blood
37	chr18:12039200-12039400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr18:12039200-12039400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr18:12039200-12039400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr18:12039200-12039400	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr18:12039200-12039400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr18:12039200-12039400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
43	chr18:12039200-12039400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr18:12039200-12039400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr18:12039200-12039400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr18:12039200-12039400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr18:12039200-12039400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr18:12039200-12039400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr18:12039200-12039400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr18:12039200-12039400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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