Variant report

Variant	rs9470174
Chromosome Location	chr6:11810457-11810458
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	TAL1	chr6:11810257-11810584	K562	blood:	n/a	n/a
2	YY1	chr6:11810255-11810665	A549	lung:	n/a	chr6:11810488-11810497
3	FOS	chr6:11810248-11810744	MCF10A-Er-Src	breast:	n/a	n/a
4	RCOR1	chr6:11810146-11810891	Hela-S3	cervix:	n/a	n/a
5	EGR1	chr6:11810336-11810695	ECC-1	luminal epithelium:	n/a	chr6:11810458-11810473 chr6:11810454-11810476
6	STAT3	chr6:11810233-11810779	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr6:11810157-11810772	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr6:11810197-11810873	A549	lung:	n/a	n/a
9	SMC3	chr6:11810069-11810923	Hela-S3	cervix:	n/a	n/a
10	MYC	chr6:11810231-11810739	MCF10A-Er-Src	breast:	n/a	chr6:11810588-11810597
11	RAD21	chr6:11810231-11810474	IMR90	lung:	n/a	n/a
12	SP1	chr6:11810110-11810740	A549	lung:	n/a	n/a
13	FOS	chr6:11810320-11810774	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr6:11810242-11810629	MCF10A-Er-Src	breast:	n/a	n/a
15	CEBPB	chr6:11810110-11810866	Hela-S3	cervix:	n/a	n/a
16	MYC	chr6:11810360-11810563	K562	blood:	n/a	n/a
17	POLR2A	chr6:11810365-11810490	A549	lung:	n/a	n/a
18	POLR2A	chr6:11810216-11810503	Hela-S3	cervix:	n/a	n/a
19	JUND	chr6:11810199-11810524	K562	blood:	n/a	n/a
20	MYC	chr6:11809986-11810722	MCF10A-Er-Src	breast:	n/a	chr6:11810588-11810597
21	CEBPB	chr6:11810366-11810775	ECC-1	luminal epithelium:	n/a	n/a
22	STAT3	chr6:11810250-11810693	MCF10A-Er-Src	breast:	n/a	n/a
23	TCF7L2	chr6:11810165-11810739	Hela-S3	cervix:	n/a	n/a
24	TCF12	chr6:11809998-11810874	A549	lung:	n/a	chr6:11810472-11810480
25	MAX	chr6:11810137-11810800	Hela-S3	cervix:	n/a	chr6:11810588-11810597
26	MAZ	chr6:11810101-11810775	Hela-S3	cervix:	n/a	chr6:11810588-11810597
27	POLR2A	chr6:11810352-11810473	A549	lung:	n/a	n/a
28	GTF2F1	chr6:11810192-11810785	Hela-S3	cervix:	n/a	n/a
29	GTF2F1	chr6:11810434-11810525	K562	blood:	n/a	n/a
30	TBL1XR1	chr6:11810305-11810519	K562	blood:	n/a	n/a
31	TCF12	chr6:11810192-11810723	ECC-1	luminal epithelium:	n/a	chr6:11810472-11810480
32	USF2	chr6:11810219-11810677	Hela-S3	cervix:	n/a	n/a
33	STAT3	chr6:11810219-11810606	MCF10A-Er-Src	breast:	n/a	n/a
34	MXI1	chr6:11810143-11810567	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr6:11810100-11810557	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr6:11810261-11810776	ECC-1	luminal epithelium:	n/a	n/a
37	TBP	chr6:11810049-11810766	Hela-S3	cervix:	n/a	n/a
38	TEAD4	chr6:11810176-11810700	K562	blood:	n/a	chr6:11810469-11810478
39	FOS	chr6:11810204-11810772	MCF10A-Er-Src	breast:	n/a	n/a
40	CHD2	chr6:11810177-11810836	Hela-S3	cervix:	n/a	n/a
41	EP300	chr6:11810097-11810541	A549	lung:	n/a	chr6:11810192-11810206
42	CEBPB	chr6:11810403-11810836	IMR90	lung:	n/a	n/a
43	MAFK	chr6:11810222-11810539	K562	blood:	n/a	n/a
44	JUND	chr6:11810237-11810487	A549	lung:	n/a	n/a
45	TEAD4	chr6:11810173-11810747	ECC-1	luminal epithelium:	n/a	chr6:11810469-11810478
46	NFIC	chr6:11810062-11810837	SK-N-SH	brain:	n/a	chr6:11810373-11810390 chr6:11810374-11810390
47	PRDM1	chr6:11810068-11810870	Hela-S3	cervix:	n/a	n/a
48	RAD21	chr6:11810120-11810804	Hela-S3	cervix:	n/a	n/a
49	SP1	chr6:11810076-11810822	A549	lung:	n/a	n/a
50	CREB1	chr6:11810140-11810586	A549	lung:	n/a	n/a

Variant related genes	Relation type
ADTRP	TF binding region
ENSG00000234427	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1033423	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1033424	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1195536	1.00[JPT][hapmap]
rs28360633	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457867	1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457868	1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457869	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912358	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915289	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724821	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73364036	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7739436	1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7740866	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743280	1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744077	0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744396	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746016	1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746309	1.00[JPT][hapmap]
rs7747022	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7757263	1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7758760	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760480	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763212	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775964	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296165	1.00[JPT][hapmap]
rs9296170	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296171	1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296172	1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296173	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470112	1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470132	1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470168	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470176	1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470198	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470201	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470202	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9470203	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470209	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470211	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9470212	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9470213	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9470214	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997137	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11806400-11810600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:11807200-11811000	Weak transcription	Lung	lung
3	chr6:11807600-11816400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:11808000-11814400	Weak transcription	Fetal Thymus	thymus
5	chr6:11809200-11811400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:11809400-11810800	Enhancers	NHEK	skin
7	chr6:11809400-11811200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:11809400-11811200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr6:11809400-11811200	Enhancers	HMEC	breast
10	chr6:11809600-11811400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:11809600-11811400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr6:11809800-11810600	Enhancers	Brain Substantia Nigra	brain
13	chr6:11809800-11810600	Enhancers	Colonic Mucosa	Colon
14	chr6:11809800-11810600	Enhancers	Fetal Intestine Small	intestine
15	chr6:11809800-11810600	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr6:11809800-11810800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:11809800-11810800	Enhancers	HSMMtube	muscle
18	chr6:11809800-11811000	Enhancers	Brain Anterior Caudate	brain
19	chr6:11809800-11811000	Enhancers	Colon Smooth Muscle	Colon
20	chr6:11809800-11811000	Enhancers	Duodenum Mucosa	Duodenum
21	chr6:11809800-11811000	Flanking Active TSS	A549	lung
22	chr6:11809800-11811000	Enhancers	NHLF	lung
23	chr6:11809800-11811200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:11809800-11811200	Enhancers	Right Ventricle	heart
25	chr6:11809800-11811200	Enhancers	NHDF-Ad	bronchial
26	chr6:11809800-11811400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:11809800-11811400	Enhancers	Adipose Nuclei	Adipose
28	chr6:11809800-11811400	Enhancers	Ovary	ovary
29	chr6:11809800-11811400	Enhancers	Stomach Smooth Muscle	stomach
30	chr6:11809800-11811600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:11809800-11811800	Enhancers	Fetal Muscle Leg	muscle
32	chr6:11809800-11812000	Enhancers	Fetal Lung	lung
33	chr6:11809800-11812000	Enhancers	Stomach Mucosa	stomach
34	chr6:11809800-11812200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr6:11809800-11812600	Enhancers	Fetal Heart	heart
36	chr6:11810000-11810800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:11810000-11810800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:11810000-11811000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:11810000-11811000	Enhancers	Fetal Brain Female	brain
40	chr6:11810000-11811000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr6:11810000-11811000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr6:11810000-11811000	Weak transcription	Small Intestine	intestine
43	chr6:11810000-11811400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:11810000-11811400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:11810200-11810600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:11810200-11810600	Enhancers	Rectal Smooth Muscle	rectum
47	chr6:11810200-11810800	Enhancers	Liver	Liver
48	chr6:11810200-11810800	Enhancers	Fetal Intestine Large	intestine
49	chr6:11810200-11810800	Enhancers	Fetal Stomach	stomach
50	chr6:11810200-11811000	Enhancers	Sigmoid Colon	Sigmoid Colon

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