Variant report

Variant	rs12204809
Chromosome Location	chr6:128071020-128071021
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	chr6:128066047..128067934-chr6:128068998..128071308,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10872325	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11154427	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751398	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11751997	0.85[AMR][1000 genomes]
rs11752750	0.85[AMR][1000 genomes]
rs11752963	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961390	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11962700	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967577	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12153861	0.89[EUR][1000 genomes]
rs12193453	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12193548	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198905	0.85[AMR][1000 genomes]
rs12205701	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12205922	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206913	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12212775	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12214570	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12214876	0.86[ASN][1000 genomes]
rs13202957	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13208171	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13208319	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13211550	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13214678	0.86[ASN][1000 genomes]
rs35476985	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35898325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72965782	0.85[AMR][1000 genomes]
rs72965789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965790	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs920992	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886638	chr6:127954614-128087172	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv886639	chr6:127954614-128109244	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv886640	chr6:127961263-128096587	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886641	chr6:127971136-128085283	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv886642	chr6:127971136-128096587	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv886643	chr6:127971136-128109244	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv886644	chr6:127976408-128109244	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv886645	chr6:127977160-128085283	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv886646	chr6:127977160-128087172	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv886647	chr6:127977160-128109244	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv886648	chr6:127983009-128109244	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv830799	chr6:128033100-128194511	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128047200-128082400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr6:128061800-128082200	Weak transcription	Thymus	Thymus
3	chr6:128068800-128074600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr6:128068800-128076600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:128069000-128071400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr6:128069000-128072200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr6:128069000-128074800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr6:128069000-128076000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr6:128069200-128071800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:128069200-128074400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr6:128069400-128071200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:128069400-128075400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:128069800-128072200	Enhancers	Primary T cells from cord blood	blood
14	chr6:128071000-128075600	Weak transcription	Fetal Thymus	thymus

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