Variant report

Variant	rs73781229
Chromosome Location	chr6:149885150-149885151
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	NFIC	chr6:149884749-149885175	SK-N-SH	brain:	n/a	n/a
2	JUND	chr6:149884544-149885229	SK-N-SH	brain:	n/a	chr6:149884865-149884876
3	GATA3	chr6:149884474-149885590	SK-N-SH	brain:	n/a	chr6:149885246-149885253
4	PBX3	chr6:149884593-149885560	SK-N-SH	brain:	n/a	n/a
5	FOSL2	chr6:149884475-149885207	SK-N-SH	brain:	n/a	n/a
6	EP300	chr6:149885071-149885499	SK-N-SH_RA	brain:	n/a	n/a
7	MYC	chr6:149884590-149885158	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr6:149884707-149885169	MCF-7	breast:	n/a	n/a
9	EP300	chr6:149885115-149885478	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr6:149884711-149885311	Hela-S3	cervix:	n/a	n/a
11	TCF7L2	chr6:149885069-149885474	HEK293	kidney:	n/a	chr6:149885258-149885274 chr6:149885259-149885273 chr6:149885260-149885270 chr6:149885261-149885270 chr6:149885258-149885274
12	TCF12	chr6:149884500-149885270	SK-N-SH	brain:	n/a	n/a
13	JUND	chr6:149884572-149885184	HCT-116	colon:	n/a	chr6:149884865-149884876
14	PBX3	chr6:149884770-149885558	SK-N-SH	brain:	n/a	n/a
15	RCOR1	chr6:149884752-149885197	Hela-S3	cervix:	n/a	n/a
16	TCF7L2	chr6:149884581-149885463	Hela-S3	cervix:	n/a	chr6:149885258-149885274 chr6:149885259-149885273 chr6:149885260-149885270 chr6:149885261-149885270 chr6:149885258-149885274
17	NFIC	chr6:149884514-149885351	SK-N-SH	brain:	n/a	n/a
18	JUND	chr6:149884534-149885192	SK-N-SH	brain:	n/a	chr6:149884865-149884876
19	STAT3	chr6:149884721-149885175	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr6:149884528-149885210	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr6:149884547-149885570	SK-N-SH	brain:	n/a	chr6:149885246-149885253
22	FOSL1	chr6:149884587-149885196	HCT-116	colon:	n/a	n/a
23	TCF7L2	chr6:149885089-149885416	Hela-S3	cervix:	n/a	chr6:149885258-149885274 chr6:149885259-149885273 chr6:149885260-149885270 chr6:149885261-149885270 chr6:149885258-149885274
24	FOS	chr6:149884631-149885280	MCF10A-Er-Src	breast:	n/a	chr6:149885249-149885260 chr6:149885246-149885258 chr6:149884814-149884825 chr6:149884865-149884876
25	TCF12	chr6:149884503-149885356	SK-N-SH	brain:	n/a	n/a
26	E2F4	chr6:149884882-149885309	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr6:149884896-149885164	K562	blood:	n/a	n/a
28	JUND	chr6:149884490-149885271	SK-N-SH	brain:	n/a	chr6:149885249-149885260 chr6:149885246-149885258 chr6:149884865-149884876

No.	Distal block	Cell Line	Cell type
1	chr6:149865611..149871097-chr6:149883709..149888968,8	K562	blood:
2	chr6:149865083..149869048-chr6:149884009..149889859,10	MCF-7	breast:
3	chr6:149871886..149874097-chr6:149885143..149886769,2	K562	blood:
4	chr6:149863889..149870301-chr6:149880315..149888361,14	K562	blood:
5	chr6:149833219..149834722-chr6:149885011..149886863,2	K562	blood:
6	chr6:149883500..149885570-chr6:149968229..149969778,2	MCF-7	breast:
7	chr6:149884132..149889842-chr6:149966518..149971305,10	K562	blood:
8	chr6:149884836..149889436-chr6:149966369..149971850,7	K562	blood:
9	chr6:149884840..149889202-chr6:150038504..150040931,4	K562	blood:
10	chr6:149884418..149886657-chr6:150140173..150142192,2	K562	blood:

Variant related genes	Relation type
GINM1	TF binding region
ENSG00000186625	Chromatin interaction
ENSG00000131013	Chromatin interaction
ENSG00000131023	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56170330	0.83[AFR][1000 genomes]
rs73779380	0.83[AFR][1000 genomes]
rs73779387	0.84[AFR][1000 genomes]
rs73781230	0.90[AFR][1000 genomes]
rs73781232	0.90[AFR][1000 genomes]
rs73781236	0.94[AFR][1000 genomes]
rs73781245	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv966665	chr6:149862756-149895103	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv289	chr6:149864898-149998818	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv5534	chr6:149864898-149998818	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
4	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149884000-149886200	Enhancers	Hela-S3	cervix
2	chr6:149884200-149886200	Enhancers	NHLF	lung
3	chr6:149884400-149885200	Enhancers	NHEK	skin
4	chr6:149884400-149885400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:149884400-149885400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:149884400-149885400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:149884400-149885600	Enhancers	NHDF-Ad	bronchial
8	chr6:149884400-149885600	Enhancers	Osteobl	bone
9	chr6:149884400-149885800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:149884400-149885800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:149884400-149886200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:149884400-149886200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:149884400-149886200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:149884400-149886200	Enhancers	HMEC	breast
15	chr6:149884400-149886600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:149884400-149886600	Enhancers	HUVEC	blood vessel
17	chr6:149884600-149885600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:149884600-149885600	Enhancers	A549	lung
19	chr6:149884600-149885600	Enhancers	NH-A	brain
20	chr6:149884600-149886200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:149884800-149885200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:149884800-149885400	Enhancers	GM12878-XiMat	blood
23	chr6:149884800-149886200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:149884800-149886600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:149884800-149886600	Enhancers	HSMM	muscle

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