Variant report

Variant	rs3135307
Chromosome Location	chr6:28847384-28847385
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28838562..28840707-chr6:28844607..28847429,2	K562	blood:
2	chr6:28841283..28845553-chr6:28846644..28850092,3	MCF-7	breast:
3	chr6:28846715..28849076-chr6:28906590..28908928,2	K562	blood:
4	chr6:28845798..28848027-chr6:28890003..28892117,2	MCF-7	breast:
5	chr6:28835058..28836917-chr6:28845496..28848053,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204713	Chromatin interaction

Extended variants
information (count: 137 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs1233579	0.80[EUR][1000 genomes]
rs1233580	0.80[EUR][1000 genomes]
rs1233581	0.80[EUR][1000 genomes]
rs1233583	0.80[EUR][1000 genomes]
rs1233593	0.80[EUR][1000 genomes]
rs1233594	0.80[EUR][1000 genomes]
rs1233599	0.84[EUR][1000 genomes]
rs1233600	0.84[EUR][1000 genomes]
rs1233604	0.84[EUR][1000 genomes]
rs1233618	0.84[EUR][1000 genomes]
rs1233620	0.84[EUR][1000 genomes]
rs1233623	0.84[EUR][1000 genomes]
rs1238262	0.80[EUR][1000 genomes]
rs1311912	0.80[EUR][1000 genomes]
rs1311913	0.80[EUR][1000 genomes]
rs13206458	0.96[EUR][1000 genomes]
rs13437309	0.90[AFR][1000 genomes]
rs3117146	0.96[EUR][1000 genomes]
rs3118357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3118359	1.00[EUR][1000 genomes]
rs3118360	0.92[EUR][1000 genomes]
rs3118361	0.96[EUR][1000 genomes]
rs3118364	0.95[EUR][1000 genomes]
rs3118365	0.98[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs3118366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3118367	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3129791	0.89[EUR][1000 genomes]
rs3129794	0.96[EUR][1000 genomes]
rs3129797	0.96[EUR][1000 genomes]
rs3129798	0.96[EUR][1000 genomes]
rs3130837	1.00[EUR][1000 genomes]
rs3130838	1.00[EUR][1000 genomes]
rs3130844	0.96[EUR][1000 genomes]
rs3130845	0.96[EUR][1000 genomes]
rs3130846	0.93[EUR][1000 genomes]
rs3130847	0.96[EUR][1000 genomes]
rs3130885	0.94[EUR][1000 genomes]
rs3130887	0.98[EUR][1000 genomes]
rs3130888	0.96[EUR][1000 genomes]
rs3130890	0.85[EUR][1000 genomes]
rs3130891	0.96[EUR][1000 genomes]
rs3130892	0.96[EUR][1000 genomes]
rs3130893	0.96[EUR][1000 genomes]
rs3130894	0.96[EUR][1000 genomes]
rs3130895	0.94[EUR][1000 genomes]
rs3130896	0.96[EUR][1000 genomes]
rs3131068	0.96[EUR][1000 genomes]
rs3131069	0.96[EUR][1000 genomes]
rs3131071	0.96[EUR][1000 genomes]
rs3131072	0.96[EUR][1000 genomes]
rs3131073	0.93[EUR][1000 genomes]
rs3131075	0.96[EUR][1000 genomes]
rs3131076	0.96[EUR][1000 genomes]
rs3131081	0.96[EUR][1000 genomes]
rs3131085	0.92[EUR][1000 genomes]
rs3131093	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3131094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3131095	1.00[EUR][1000 genomes]
rs3131096	1.00[EUR][1000 genomes]
rs3131097	1.00[EUR][1000 genomes]
rs3131101	0.92[EUR][1000 genomes]
rs3131335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3131336	1.00[EUR][1000 genomes]
rs3131340	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3131341	0.89[EUR][1000 genomes]
rs3131343	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3131345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3132373	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3132374	0.96[EUR][1000 genomes]
rs3132376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3132378	0.92[EUR][1000 genomes]
rs3132382	0.96[EUR][1000 genomes]
rs3132384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3132385	1.00[EUR][1000 genomes]
rs3132387	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3132388	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3132389	1.00[EUR][1000 genomes]
rs3132391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3132392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3132393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3132394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3132395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3132396	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3135293	1.00[EUR][1000 genomes]
rs3135294	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3135295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3135297	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3135298	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3135299	0.96[EUR][1000 genomes]
rs3135300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3135302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3135304	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3135306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3135308	1.00[EUR][1000 genomes]
rs3135309	1.00[EUR][1000 genomes]
rs3135310	1.00[EUR][1000 genomes]
rs3135311	1.00[EUR][1000 genomes]
rs3135312	1.00[EUR][1000 genomes]
rs3135313	1.00[EUR][1000 genomes]
rs3135316	1.00[EUR][1000 genomes]
rs3135317	0.96[EUR][1000 genomes]
rs3135318	0.96[EUR][1000 genomes]
rs3135325	0.96[EUR][1000 genomes]
rs4324798	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6928657	0.86[AFR][1000 genomes]
rs7760313	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7761321	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7764642	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7766699	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7767099	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9257133	0.80[EUR][1000 genomes]
rs9257136	0.80[EUR][1000 genomes]
rs9257137	0.80[EUR][1000 genomes]
rs9257140	0.80[EUR][1000 genomes]
rs9257167	0.84[EUR][1000 genomes]
rs9257183	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9257184	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9257187	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9257188	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9257189	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9257192	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9257217	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9257223	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9257227	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9257245	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9257249	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9257250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9257262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9257267	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9257272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9257331	1.00[EUR][1000 genomes]
rs9257345	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883518	chr6:28792477-28911802	Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv883519	chr6:28792477-28936556	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
3	nsv427748	chr6:28831888-28999434	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
4	nsv601212	chr6:28833225-28893927	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription 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	47 gene(s)	inside rSNPs	diseases
5	nsv462667	chr6:28834646-28893927	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3135307	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs3135307	ZFP57	Cis_1M	lymphoblastoid	RTeQTL
rs3135307	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28843800-28848000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:28844200-28848000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:28844200-28848400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:28844200-28848400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:28844400-28848200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:28844600-28848000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:28844800-28848200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:28844800-28848200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:28844800-28848400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:28845000-28847600	Enhancers	Thymus	Thymus
11	chr6:28845800-28848400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:28846000-28848200	Weak transcription	A549	lung
13	chr6:28846000-28848400	Weak transcription	Fetal Intestine Small	intestine
14	chr6:28846400-28848400	Weak transcription	Fetal Intestine Large	intestine
15	chr6:28846600-28848400	Weak transcription	Fetal Thymus	thymus
16	chr6:28847000-28848000	Weak transcription	HepG2	liver
17	chr6:28847000-28848000	Weak transcription	K562	blood

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