Variant report

Variant	rs1718157
Chromosome Location	chr12:121674187-121674188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121666090..121669827-chr12:121670263..121674205,6	K562	blood:
2	chr12:121660603..121665110-chr12:121671733..121676729,4	K562	blood:
3	chr12:121673925..121677209-chr12:121686132..121689078,3	MCF-7	breast:
4	chr12:121673593..121675098-chr12:121676910..121678687,2	K562	blood:
5	chr12:121666946..121669221-chr12:121671524..121675627,4	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1169716	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1169719	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1169723	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1169724	1.00[AMR][1000 genomes]
rs1169810	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1180013	1.00[AMR][1000 genomes]
rs1180014	1.00[AMR][1000 genomes]
rs1180016	1.00[AMR][1000 genomes]
rs1180052	0.82[YRI][hapmap]
rs1186053	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1630178	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1647255	1.00[AMR][1000 genomes]
rs1653587	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1653588	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1653589	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1653590	1.00[YRI][hapmap]
rs1653593	1.00[YRI][hapmap]
rs1653599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1653600	1.00[AMR][1000 genomes]
rs1653615	1.00[AMR][1000 genomes]
rs1718110	1.00[AMR][1000 genomes]
rs1718156	0.82[AFR][1000 genomes]
rs1794891	1.00[AMR][1000 genomes]
rs1794903	1.00[AMR][1000 genomes]
rs1796418	1.00[AMR][1000 genomes]
rs1975123	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs208281	1.00[AMR][1000 genomes]
rs208285	1.00[AMR][1000 genomes]
rs208286	1.00[AMR][1000 genomes]
rs208297	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs2116500	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2116501	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2252298	0.82[AFR][1000 genomes]
rs2252304	0.82[AFR][1000 genomes]
rs2393848	1.00[AMR][1000 genomes]
rs2567982	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2567983	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2567998	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs2568004	1.00[AMR][1000 genomes]
rs2668246	1.00[YRI][hapmap]
rs2668248	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2686365	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2686366	1.00[AMR][1000 genomes]
rs2686381	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs2686383	1.00[AMR][1000 genomes]
rs2708094	1.00[AMR][1000 genomes]
rs2948125	1.00[AMR][1000 genomes]
rs3861796	1.00[AMR][1000 genomes]
rs512239	1.00[AMR][1000 genomes]
rs566496	1.00[AMR][1000 genomes]
rs584133	1.00[AMR][1000 genomes]
rs657647	1.00[AMR][1000 genomes]
rs672632	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs680700	1.00[AMR][1000 genomes]
rs682104	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
7	nsv899564	chr12:121641509-121689798	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv899565	chr12:121641509-121698785	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv455731	chr12:121668254-121687174	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv560456	chr12:121668254-121687174	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121649000-121675800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:121649000-121676200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:121649000-121676200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:121649000-121676600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:121649400-121680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:121652400-121675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:121653200-121675600	Weak transcription	HSMMtube	muscle
8	chr12:121653200-121698800	Weak transcription	Fetal Heart	heart
9	chr12:121653400-121677600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:121653400-121678600	Weak transcription	Right Atrium	heart
11	chr12:121654800-121675200	Strong transcription	Fetal Stomach	stomach
12	chr12:121655200-121678000	Weak transcription	Fetal Kidney	kidney
13	chr12:121657000-121676200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:121661600-121675800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:121661600-121675800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:121662000-121676800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:121662000-121679000	Weak transcription	K562	blood
18	chr12:121662400-121676400	Weak transcription	Primary B cells from cord blood	blood
19	chr12:121662800-121690600	Weak transcription	Fetal Brain Male	brain
20	chr12:121663200-121675800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:121663600-121675800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:121664000-121676200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:121665600-121676600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:121665600-121681400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:121665800-121675800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:121665800-121678600	Weak transcription	NH-A	brain
27	chr12:121666000-121676800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:121666400-121675200	Strong transcription	Colonic Mucosa	Colon
29	chr12:121666400-121676200	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr12:121666600-121679200	Strong transcription	Lung	lung
31	chr12:121667000-121675800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:121667000-121678000	Weak transcription	Left Ventricle	heart
33	chr12:121667200-121674600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:121667600-121676800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:121667800-121676600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:121667800-121685200	Weak transcription	Hela-S3	cervix
37	chr12:121668400-121676400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:121668400-121677400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:121668600-121674200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:121668600-121675200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr12:121668600-121675400	Weak transcription	NHEK	skin
42	chr12:121668600-121676400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:121668600-121676400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:121668600-121678400	Weak transcription	A549	lung
45	chr12:121668600-121678400	Weak transcription	HepG2	liver
46	chr12:121668800-121675200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:121668800-121675800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr12:121668800-121676000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:121669000-121676000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:121669200-121674400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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