Variant report

Variant	rs34683843
Chromosome Location	chr1:223991119-223991120
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223989156..223991507-chr1:224032637..224036039,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10159015	0.82[EUR][1000 genomes]
rs10465524	0.82[EUR][1000 genomes]
rs10503144	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10915702	0.81[EUR][1000 genomes]
rs10915707	0.83[EUR][1000 genomes]
rs10915715	0.86[EUR][1000 genomes]
rs1153958	0.82[EUR][1000 genomes]
rs1153965	0.93[EUR][1000 genomes]
rs12046297	0.89[EUR][1000 genomes]
rs12059128	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12059770	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12066704	0.81[EUR][1000 genomes]
rs12066829	0.81[EUR][1000 genomes]
rs12066831	0.81[EUR][1000 genomes]
rs12069561	0.83[EUR][1000 genomes]
rs12070057	0.81[EUR][1000 genomes]
rs12080250	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12088254	0.99[EUR][1000 genomes]
rs12091841	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1222134	0.83[EUR][1000 genomes]
rs1222138	0.82[EUR][1000 genomes]
rs1222140	0.81[EUR][1000 genomes]
rs1222141	0.81[EUR][1000 genomes]
rs12562109	0.83[EUR][1000 genomes]
rs12563291	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12563477	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12563637	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12563713	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12564557	1.00[ASN][1000 genomes]
rs12565202	1.00[ASN][1000 genomes]
rs12565573	1.00[ASN][1000 genomes]
rs12565967	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566817	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16841190	1.00[ASN][1000 genomes]
rs16842162	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842229	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16842257	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842326	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842343	1.00[ASN][1000 genomes]
rs17597	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17598	0.83[EUR][1000 genomes]
rs17600	0.83[EUR][1000 genomes]
rs28370069	0.87[EUR][1000 genomes]
rs28370073	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28370074	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28370088	0.94[EUR][1000 genomes]
rs28370159	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370170	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36032024	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738373	0.83[EUR][1000 genomes]
rs3738374	0.83[EUR][1000 genomes]
rs3738375	0.83[EUR][1000 genomes]
rs3767716	0.85[EUR][1000 genomes]
rs3767717	0.83[EUR][1000 genomes]
rs3767718	0.83[EUR][1000 genomes]
rs3885657	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41303996	1.00[ASN][1000 genomes]
rs58774026	1.00[ASN][1000 genomes]
rs59275322	0.81[EUR][1000 genomes]
rs61823580	0.97[EUR][1000 genomes]
rs61823581	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823583	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823585	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823587	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823591	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61824003	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61824005	0.99[EUR][1000 genomes]
rs61824008	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604724	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604727	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604728	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604729	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604730	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658954	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665485	0.85[EUR][1000 genomes]
rs6674541	0.81[EUR][1000 genomes]
rs6674846	0.81[EUR][1000 genomes]
rs6678365	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682964	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685557	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691315	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696053	0.82[EUR][1000 genomes]
rs6696222	1.00[ASN][1000 genomes]
rs6700366	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116425	1.00[ASN][1000 genomes]
rs73116447	1.00[ASN][1000 genomes]
rs73116451	1.00[ASN][1000 genomes]
rs73116456	1.00[ASN][1000 genomes]
rs7331	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515821	1.00[ASN][1000 genomes]
rs751609	0.81[EUR][1000 genomes]
rs7528455	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530328	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533551	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535882	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552702	0.82[EUR][1000 genomes]
rs7555226	0.81[EUR][1000 genomes]
rs898876	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223956600-224004600	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr1:223956600-224004600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:223960200-223998600	Strong transcription	Fetal Thymus	thymus
4	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:223960600-223995200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:223960600-224001400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:223960800-223995400	Weak transcription	GM12878-XiMat	blood
8	chr1:223961800-224004400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:223964400-224008000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:223969800-223995200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:223970000-223995200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:223972800-223995200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr1:223973200-223996000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:223974000-223995000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:223975800-223995200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:223976800-224003000	Weak transcription	Fetal Heart	heart
17	chr1:223977600-223993400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:223978200-223995000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:223978400-223994200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:223978400-223994800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr1:223978800-223997200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr1:223979000-223995600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:223979000-224000800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:223979200-223995800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:223979200-224002200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:223979400-224002600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:223979600-223991400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:223979600-223992200	Strong transcription	Placenta	Placenta
29	chr1:223979600-223992400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:223979600-223994000	Strong transcription	NH-A	brain
31	chr1:223979600-223994600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr1:223979600-223994800	Strong transcription	Primary B cells from cord blood	blood
33	chr1:223979600-224002400	Strong transcription	Dnd41	blood
34	chr1:223979800-223996000	Strong transcription	Primary T cells from cord blood	blood
35	chr1:223979800-223997000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:223981200-223995800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:223981800-224002600	Weak transcription	Stomach Mucosa	stomach
38	chr1:223982400-223997800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:223982600-223994600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:223982600-223997600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:223982800-223994000	Strong transcription	Left Ventricle	heart
42	chr1:223982800-223994600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:223982800-223995200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:223982800-223995800	Strong transcription	Fetal Intestine Large	intestine
45	chr1:223982800-224002200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:223983000-223994800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:223983000-223995800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr1:223983000-223997800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:223983200-223994200	Strong transcription	Adipose Nuclei	Adipose
50	chr1:223983200-223994200	Strong transcription	Stomach Smooth Muscle	stomach

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