Variant report

Variant	rs11242905
Chromosome Location	chr6:474405-474406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:328240..330031-chr6:473438..476214,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs34926067	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4959273	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4959927	0.81[AMR][1000 genomes]
rs4959928	0.81[AMR][1000 genomes]
rs6597036	0.88[AMR][1000 genomes]
rs6597037	0.86[AMR][1000 genomes]
rs73376981	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9378846	0.84[AMR][1000 genomes]
rs9392029	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9503978	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428134	chr6:60001-653718	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2758034	chr6:60001-775274	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2759401	chr6:60001-775274	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv531999	chr6:163083-588213	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1067791	chr6:163083-919234	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv497978	chr6:163083-919234	ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv432823	chr6:165391-516350	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv1024273	chr6:170425-510748	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
9	nsv538028	chr6:170425-510748	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
10	nsv1032462	chr6:170425-766201	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
11	nsv538029	chr6:170425-766201	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv1034089	chr6:183203-714494	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv538053	chr6:230804-757589	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv1016410	chr6:259527-499709	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	nsv538055	chr6:259527-499709	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
16	nsv533283	chr6:265806-588274	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
17	nsv1032977	chr6:266046-538203	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
18	nsv538064	chr6:266046-538203	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active 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	22 gene(s)	inside rSNPs	diseases
19	nsv432841	chr6:367109-722716	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
20	nsv883359	chr6:394293-516350	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
21	nsv1034792	chr6:398148-477288	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
22	nsv830569	chr6:402743-573991	Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS 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	3 gene(s)	inside rSNPs	diseases
23	nsv600781	chr6:403799-833579	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
24	nsv5167	chr6:442174-486632	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
25	nsv948643	chr6:455419-1113509	Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
26	nsv1018244	chr6:460039-476395	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv948744	chr6:472807-1178561	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:469000-475400	Weak transcription	Right Atrium	heart
2	chr6:471600-475400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:472000-475200	Weak transcription	Spleen	Spleen
4	chr6:473000-474600	Enhancers	Primary T cells from cord blood	blood
5	chr6:473200-474600	Enhancers	Fetal Thymus	thymus
6	chr6:473400-474600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr6:473400-475800	Enhancers	Thymus	Thymus
8	chr6:473400-476200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:473800-474600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:473800-474600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr6:473800-474600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:473800-474800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:473800-475000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:473800-475400	Enhancers	Primary B cells from peripheral blood	blood
15	chr6:473800-475600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:473800-475600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:473800-475600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:474000-474800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:474000-475600	Enhancers	Primary B cells from cord blood	blood
20	chr6:474000-475600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:474000-485600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:474200-474600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:474200-474600	Bivalent Enhancer	Placenta	Placenta
24	chr6:474200-475000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr6:474200-475000	Enhancers	Brain Hippocampus Middle	brain
26	chr6:474200-475200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:474200-475400	Flanking Active TSS	Dnd41	blood
28	chr6:474200-475600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr6:474200-475800	Enhancers	Primary hematopoietic stem cells	blood
30	chr6:474400-474600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:474400-474800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr6:474400-474800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr6:474400-474800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:474400-474800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr6:474400-474800	Enhancers	Duodenum Mucosa	Duodenum
36	chr6:474400-475000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:474400-475000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr6:474400-475000	Active TSS	Brain Anterior Caudate	brain
39	chr6:474400-475200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:474400-475200	Enhancers	Brain Cingulate Gyrus	brain
41	chr6:474400-475400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr6:474400-475400	Flanking Active TSS	GM12878-XiMat	blood
43	chr6:474400-475600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:474400-475600	Enhancers	Brain Angular Gyrus	brain
45	chr6:474400-475800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:474400-476000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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