Variant report

Variant	rs10457346
Chromosome Location	chr6:119027451-119027452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119020899..119024198-chr6:119027287..119029585,3	MCF-7	breast:
2	chr6:119026319..119027841-chr6:119028702..119030518,2	MCF-7	breast:
3	chr6:119026038..119027684-chr6:119041311..119043750,2	K562	blood:
4	chr6:119014557..119016920-chr6:119023661..119027711,4	K562	blood:
5	chr6:119025003..119027985-chr6:119208715..119210958,2	K562	blood:
6	chr6:119027193..119028788-chr6:119215908..119217917,2	K562	blood:
7	chr6:119026092..119028989-chr6:119074948..119078427,3	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10080340	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10155773	0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10457339	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10457340	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11153762	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12189671	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12190964	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12191005	0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12191529	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12191962	0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs12192532	0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12197348	0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12200660	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12202466	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12204374	0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12205793	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12206369	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12206459	0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12207554	0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12209500	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12209566	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12211934	0.83[AMR][1000 genomes]
rs12212089	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12215364	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12215456	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12215565	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13328242	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13437148	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13437314	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60500545	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6903291	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6904344	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7755203	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7759420	0.83[AMR][1000 genomes]
rs7764014	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7770667	1.00[CEU][hapmap]
rs9320657	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9320659	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9320661	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9320662	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9372510	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9481818	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9481822	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9481823	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9481824	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9481829	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9481830	0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9481835	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9481839	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489415	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489422	0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489427	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489430	0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489434	0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs9489435	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489451	0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489464	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489468	0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489472	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489480	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489481	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489484	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489485	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489488	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489490	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489492	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9489495	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9489496	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9489501	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9489505	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS 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	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription 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	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats 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	9 gene(s)	inside rSNPs	diseases
9	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
13	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119024200-119029800	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:119025400-119027800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:119025400-119028000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:119025400-119028200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:119025400-119028400	Genic enhancers	Fetal Thymus	thymus
6	chr6:119025400-119029400	Enhancers	Fetal Muscle Leg	muscle
7	chr6:119025400-119029800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:119025800-119028000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:119026000-119027600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr6:119026000-119028000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:119026000-119028000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:119026000-119028200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:119026000-119029800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr6:119026200-119028400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr6:119026200-119028600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:119026200-119029200	Enhancers	Fetal Brain Male	brain
17	chr6:119026400-119027600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:119026400-119027600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr6:119026400-119027600	Enhancers	Brain Substantia Nigra	brain
20	chr6:119026400-119027600	Enhancers	Fetal Brain Female	brain
21	chr6:119026400-119028200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:119026400-119028200	Flanking Active TSS	Osteobl	bone
23	chr6:119026400-119028400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr6:119026600-119027600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr6:119026600-119027600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:119026600-119027600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr6:119026600-119027600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr6:119026600-119027600	Enhancers	Rectal Smooth Muscle	rectum
29	chr6:119026600-119027800	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr6:119026600-119028200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:119026600-119028400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:119026600-119028400	Enhancers	Fetal Heart	heart
33	chr6:119026600-119029600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:119026800-119027600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr6:119026800-119027600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr6:119026800-119027600	Enhancers	Placenta	Placenta
37	chr6:119026800-119027800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr6:119026800-119028400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr6:119026800-119028400	Enhancers	A549	lung
40	chr6:119026800-119028400	Flanking Active TSS	NH-A	brain
41	chr6:119026800-119029800	Weak transcription	Brain Germinal Matrix	brain
42	chr6:119026800-119030200	Flanking Active TSS	Dnd41	blood
43	chr6:119027000-119027600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:119027000-119027600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:119027000-119027600	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr6:119027000-119027600	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr6:119027000-119027600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:119027000-119027600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:119027000-119027600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:119027000-119027600	Flanking Active TSS	Brain Anterior Caudate	brain

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