Variant report

Variant	rs56317766
Chromosome Location	chr6:11414266-11414267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2A	chr6:11413892-11414402	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:11413990-11415487	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr6:11414033-11414324	Hela-S3	cervix:	n/a	n/a
4	FOS	chr6:11413969-11414303	MCF10A-Er-Src	breast:	n/a	chr6:11414124-11414134
5	FOS	chr6:11413943-11414319	MCF10A-Er-Src	breast:	n/a	chr6:11414124-11414134
6	RUNX3	chr6:11413920-11414393	GM12878	blood:	n/a	n/a
7	E2F4	chr6:11413988-11414420	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr6:11413985-11414321	MCF10A-Er-Src	breast:	n/a	chr6:11414124-11414134
9	FOS	chr6:11413949-11414360	MCF10A-Er-Src	breast:	n/a	chr6:11414124-11414134
10	STAT3	chr6:11413984-11414309	MCF10A-Er-Src	breast:	n/a	chr6:11414085-11414096
11	EP300	chr6:11414032-11414282	Hela-S3	cervix:	n/a	n/a
12	NFIC	chr6:11413725-11414437	GM12878	blood:	n/a	n/a
13	CEBPB	chr6:11414033-11414346	IMR90	lung:	n/a	n/a
14	STAT3	chr6:11414037-11414291	MCF10A-Er-Src	breast:	n/a	chr6:11414085-11414096
15	MYC	chr6:11413983-11414298	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr6:11413983-11414297	MCF10A-Er-Src	breast:	n/a	chr6:11414085-11414096

No.	Distal block	Cell Line	Cell type
1	chr6:11229922..11234167-chr6:11411662..11415515,7	MCF-7	breast:
2	chr6:11387321..11394874-chr6:11409302..11416244,8	MCF-7	breast:
3	chr6:11216036..11217997-chr6:11412401..11415164,2	MCF-7	breast:
4	chr6:11413490..11417171-chr6:11433636..11437714,3	MCF-7	breast:
5	chr6:11394123..11395903-chr6:11413687..11415867,2	MCF-7	breast:
6	chr6:11388874..11392122-chr6:11413409..11415866,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233656	TF binding region
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10947217	0.88[ASN][1000 genomes]
rs12664948	0.90[EUR][1000 genomes]
rs17507230	0.86[ASN][1000 genomes]
rs4074864	0.93[ASN][1000 genomes]
rs4076156	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4301302	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4318876	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713474	0.88[ASN][1000 genomes]
rs4713475	0.88[ASN][1000 genomes]
rs4713478	0.88[ASN][1000 genomes]
rs4713507	0.86[EUR][1000 genomes]
rs55918622	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56130422	0.81[EUR][1000 genomes]
rs56144403	0.95[ASN][1000 genomes]
rs56155385	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59349836	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61650802	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909496	0.88[EUR][1000 genomes]
rs72832932	0.90[ASN][1000 genomes]
rs72832935	0.93[ASN][1000 genomes]
rs72832944	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832950	0.90[EUR][1000 genomes]
rs73366900	0.95[ASN][1000 genomes]
rs7740502	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11405400-11419400	Weak transcription	Aorta	Aorta
2	chr6:11406600-11414600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:11411000-11415200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:11411200-11415000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:11411200-11415000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr6:11411200-11415600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:11411600-11417000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:11412200-11415400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr6:11412400-11414600	Enhancers	A549	lung
10	chr6:11412400-11415200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:11412400-11415200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:11412400-11415400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr6:11412400-11416400	Weak transcription	Fetal Kidney	kidney
14	chr6:11412600-11414400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:11412600-11414800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:11412600-11416000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:11412600-11416200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:11412600-11416400	Weak transcription	NH-A	brain
19	chr6:11412600-11425600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:11412600-11425600	Weak transcription	NHLF	lung
21	chr6:11412800-11414800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:11412800-11414800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:11412800-11415000	Weak transcription	NHDF-Ad	bronchial
24	chr6:11412800-11415200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:11412800-11416400	Weak transcription	HSMM	muscle
26	chr6:11413400-11415600	Enhancers	Hela-S3	cervix
27	chr6:11413600-11415600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr6:11413600-11416800	Enhancers	NHEK	skin
29	chr6:11413800-11414800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:11413800-11414800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:11413800-11414800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:11413800-11415800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr6:11413800-11416600	Enhancers	HepG2	liver
34	chr6:11414200-11414600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr6:11414200-11414800	Enhancers	GM12878-XiMat	blood
36	chr6:11414200-11415000	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr6:11414200-11415200	Enhancers	HUVEC	blood vessel

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