Variant report

Variant	rs867204
Chromosome Location	chr6:14001956-14001957
allele	A/G
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	ELK1	chr6:14001593-14002117	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr6:14001869-14002163	HCT-116	colon:	n/a	n/a
3	TCF7L2	chr6:14001045-14002260	Hela-S3	cervix:	n/a	chr6:14001698-14001707 chr6:14001890-14001906
4	YY1	chr6:14001700-14002060	SK-N-SH_RA	brain:	n/a	n/a
5	CBX3	chr6:14001344-14002405	HCT-116	colon:	n/a	n/a
6	REST	chr6:14001843-14002248	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr6:14001404-14002245	Hela-S3	cervix:	n/a	n/a
8	FOXA1	chr6:14001649-14001956	T-47D	breast:	n/a	n/a
9	FOSL2	chr6:14001382-14002280	A549	lung:	n/a	chr6:14002049-14002057 chr6:14002049-14002057 chr6:14001964-14001971 chr6:14002050-14002061 chr6:14001699-14001706 chr6:14002049-14002056 chr6:14001962-14001974 chr6:14001698-14001707 chr6:14001698-14001706
10	FOSL2	chr6:14001562-14002185	A549	lung:	n/a	chr6:14002049-14002057 chr6:14002049-14002057 chr6:14001964-14001971 chr6:14002050-14002061 chr6:14001699-14001706 chr6:14002049-14002056 chr6:14001962-14001974 chr6:14001698-14001707 chr6:14001698-14001706
11	JUND	chr6:14001362-14002470	HCT-116	colon:	n/a	chr6:14002049-14002057 chr6:14002049-14002057 chr6:14001962-14001973 chr6:14001964-14001971 chr6:14002050-14002061 chr6:14001699-14001706 chr6:14002049-14002056 chr6:14001962-14001974 chr6:14001698-14001707 chr6:14001698-14001706
12	PBX3	chr6:14001396-14002440	SK-N-SH	brain:	n/a	n/a
13	EP300	chr6:14001519-14002169	Hela-S3	cervix:	n/a	chr6:14001697-14001706 chr6:14002049-14002058 chr6:14001698-14001707
14	POLR2A	chr6:14001078-14002177	U87	brain:	n/a	n/a
15	GATA3	chr6:14001362-14002344	A549	lung:	n/a	chr6:14002050-14002059 chr6:14001962-14001971 chr6:14002002-14002012
16	USF2	chr6:14001787-14002166	Hela-S3	cervix:	n/a	n/a
17	JUND	chr6:14001782-14002133	K562	blood:	n/a	chr6:14002049-14002057 chr6:14002049-14002057 chr6:14001962-14001973 chr6:14001964-14001971 chr6:14002050-14002061 chr6:14002049-14002056 chr6:14001962-14001974
18	RXRA	chr6:14001298-14002514	SK-N-SH	brain:	n/a	chr6:14001697-14001706 chr6:14001698-14001707
19	FOSL2	chr6:14001334-14002494	SK-N-SH	brain:	n/a	chr6:14002049-14002057 chr6:14002049-14002057 chr6:14001964-14001971 chr6:14002050-14002061 chr6:14001699-14001706 chr6:14002049-14002056 chr6:14001962-14001974 chr6:14001698-14001707 chr6:14001698-14001706
20	CEBPB	chr6:14001382-14002206	Hela-S3	cervix:	n/a	n/a
21	MYC	chr6:14001602-14002287	MCF10A-Er-Src	breast:	n/a	chr6:14001698-14001707 chr6:14002049-14002058 chr6:14001697-14001706
22	TFAP2C	chr6:14001200-14002248	Hela-S3	cervix:	n/a	n/a
23	FOXA2	chr6:14001567-14002079	A549	lung:	n/a	n/a
24	TAF1	chr6:14001876-14002201	Hela-S3	cervix:	n/a	n/a
25	NFIC	chr6:14001331-14002462	SK-N-SH	brain:	n/a	n/a
26	JUND	chr6:14001128-14002468	SK-N-SH	brain:	n/a	chr6:14002049-14002057 chr6:14002049-14002057 chr6:14001962-14001973 chr6:14001964-14001971 chr6:14002050-14002061 chr6:14001699-14001706 chr6:14002049-14002056 chr6:14001962-14001974 chr6:14001698-14001707 chr6:14001698-14001706
27	TFAP2A	chr6:14001312-14002127	Hela-S3	cervix:	n/a	chr6:14001516-14001528 chr6:14001517-14001525 chr6:14001770-14001784 chr6:14001517-14001525 chr6:14001514-14001528 chr6:14001770-14001784 chr6:14001770-14001785 chr6:14001516-14001528 chr6:14001517-14001525 chr6:14001516-14001528
28	POLR2A	chr6:14000937-14002183	U87	brain:	n/a	n/a
29	SRF	chr6:14001126-14002563	HCT-116	colon:	n/a	chr6:14001988-14002006
30	GATA3	chr6:14001274-14002461	SK-N-SH	brain:	n/a	chr6:14002050-14002059 chr6:14001962-14001971 chr6:14002002-14002012
31	TCF12	chr6:14001457-14002250	A549	lung:	n/a	chr6:14001728-14001735
32	FOS	chr6:14001538-14002287	MCF10A-Er-Src	breast:	n/a	chr6:14002049-14002057 chr6:14002049-14002057 chr6:14001964-14001971 chr6:14002050-14002061 chr6:14001699-14001706 chr6:14002049-14002056 chr6:14001962-14001974 chr6:14001698-14001707 chr6:14001698-14001706
33	RAD21	chr6:14001429-14002225	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr6:14001802-14002002	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr6:14001502-14002120	Hela-S3	cervix:	n/a	chr6:14002049-14002057 chr6:14002049-14002057 chr6:14001964-14001971 chr6:14002050-14002061 chr6:14001699-14001706 chr6:14002049-14002056 chr6:14001962-14001974 chr6:14001698-14001707 chr6:14001698-14001706
36	POLR2A	chr6:14001333-14002227	Hela-S3	cervix:	n/a	n/a
37	STAT3	chr6:14001582-14002182	MCF10A-Er-Src	breast:	n/a	chr6:14001698-14001707 chr6:14001697-14001706
38	YY1	chr6:14001576-14002255	SK-N-SH_RA	brain:	n/a	n/a
39	TAF1	chr6:14001522-14002175	SK-N-SH	brain:	n/a	n/a
40	MAX	chr6:14001501-14002274	Hela-S3	cervix:	n/a	chr6:14001698-14001707 chr6:14002049-14002058 chr6:14001697-14001706
41	MAX	chr6:14001735-14002085	A549	lung:	n/a	chr6:14002049-14002058
42	RCOR1	chr6:14001366-14002673	IMR90	lung:	n/a	n/a
43	CEBPB	chr6:14001510-14002289	IMR90	lung:	n/a	chr6:14002270-14002282
44	GTF2F1	chr6:14001388-14002271	Hela-S3	cervix:	n/a	n/a
45	RAD21	chr6:14001580-14002196	IMR90	lung:	n/a	n/a
46	SP1	chr6:14001590-14002221	A549	lung:	n/a	n/a
47	TEAD4	chr6:14001502-14002316	SK-N-SH	brain:	n/a	n/a
48	MAX	chr6:14001454-14002365	SK-N-SH	brain:	n/a	chr6:14001698-14001707 chr6:14002049-14002058 chr6:14001697-14001706
49	EP300	chr6:14001450-14002290	SK-N-SH_RA	brain:	n/a	chr6:14001697-14001706 chr6:14002049-14002058 chr6:14001698-14001707
50	GATA3	chr6:14001272-14002481	SK-N-SH	brain:	n/a	chr6:14002050-14002059 chr6:14001962-14001971 chr6:14002002-14002012

No.	Distal block	Cell Line	Cell type
1	chr6:13995740..14002020-chr6:14004395..14009247,6	K562	blood:
2	chr6:13987958..13989889-chr6:14001199..14003652,2	K562	blood:
3	chr6:13996360..13998267-chr6:14001201..14003560,3	K562	blood:
4	chr6:13996360..13998289-chr6:14000864..14003564,4	K562	blood:

Variant related genes	Relation type
ENSG00000233981	TF binding region
ENSG00000233981	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11757916	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12190765	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280155	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280157	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs280161	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs280172	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs280173	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs280176	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs280178	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs280180	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs280181	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs280186	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs280188	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4715723	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs579538	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7752108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476344	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv600995	chr6:13945067-14009231	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv600996	chr6:13954632-14014793	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13973400-14002400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:14000400-14002800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:14000400-14002800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:14000400-14002800	Enhancers	HMEC	breast
5	chr6:14000800-14002800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:14001000-14002200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:14001000-14002600	Flanking Active TSS	Hela-S3	cervix
8	chr6:14001200-14002000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:14001200-14002000	Flanking Active TSS	NH-A	brain
10	chr6:14001200-14002200	Enhancers	Fetal Muscle Leg	muscle
11	chr6:14001200-14002400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:14001200-14002800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:14001200-14002800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:14001200-14004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:14001400-14002000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:14001400-14002400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:14001400-14002400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:14001400-14002400	Flanking Active TSS	Osteobl	bone
19	chr6:14001400-14002600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:14001600-14002200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:14001600-14002200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:14001600-14002200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:14001600-14002200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:14001600-14002200	Active TSS	NHDF-Ad	bronchial
25	chr6:14001600-14002200	Active TSS	NHLF	lung
26	chr6:14001600-14002400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr6:14001600-14002400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:14001600-14002400	Enhancers	HSMMtube	muscle
29	chr6:14001800-14002200	Active TSS	A549	lung
30	chr6:14001800-14002600	Enhancers	HSMM	muscle
31	chr6:14001800-14002600	Flanking Active TSS	NHEK	skin
32	chr6:14001800-14003200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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