Variant report

Variant	rs17063105
Chromosome Location	chr6:134212442-134212443
allele	G/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	TBP	chr6:134212083-134212657	Hela-S3	cervix:	n/a	n/a
2	CHD2	chr6:134212292-134213087	Hela-S3	cervix:	n/a	n/a
3	E2F6	chr6:134212179-134212919	A549	lung:	n/a	chr6:134212841-134212848 chr6:134212657-134212668 chr6:134212657-134212668 chr6:134212841-134212848 chr6:134212657-134212668 chr6:134212661-134212668 chr6:134212841-134212848 chr6:134212657-134212668 chr6:134212654-134212671 chr6:134212657-134212668 chr6:134212599-134212616
4	POLR2A	chr6:134212364-134212622	A549	lung:	n/a	n/a
5	CEBPB	chr6:134212223-134212541	Hela-S3	cervix:	n/a	n/a
6	MAZ	chr6:134212382-134212483	Hela-S3	cervix:	n/a	n/a
7	MXI1	chr6:134212273-134212644	Hela-S3	cervix:	n/a	n/a
8	ELK1	chr6:134212421-134212621	Hela-S3	cervix:	n/a	n/a
9	KAP1	chr6:134212164-134212703	U2OS	brain:	n/a	chr6:134212198-134212206
10	SMC3	chr6:134212395-134212754	Hela-S3	cervix:	n/a	n/a
11	E2F6	chr6:134212221-134212823	H1-hESC	embryonic stem cell:	n/a	chr6:134212657-134212668 chr6:134212657-134212668 chr6:134212657-134212668 chr6:134212661-134212668 chr6:134212657-134212668 chr6:134212654-134212671 chr6:134212657-134212668 chr6:134212599-134212616
12	RAD21	chr6:134212433-134212715	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr6:134211768-134214546	H1-neurons	neurons:	n/a	n/a
14	FOXP2	chr6:134212373-134212686	SK-N-MC	brain:	n/a	n/a
15	CTBP2	chr6:134212096-134213262	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAFK	chr6:134212253-134212476	Hela-S3	cervix:	n/a	n/a
17	ZKSCAN1	chr6:134212320-134212543	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr6:134212373-134212555	A549	lung:	n/a	n/a
19	POLR2A	chr6:134211788-134215010	H1-neurons	neurons:	n/a	n/a
20	ESR1	chr6:134212180-134212606	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr6:134210055-134213032	IMR90	lung:	n/a	n/a
22	POLR2A	chr6:134212348-134212567	A549	lung:	n/a	n/a
23	MAX	chr6:134212198-134212715	A549	lung:	n/a	n/a
24	POLR2A	chr6:134212344-134212971	A549	lung:	n/a	n/a
25	POLR2A	chr6:134212236-134212728	ProgFib	skin:	n/a	n/a
26	POLR2A	chr6:134212304-134212575	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr6:134212365-134212720	A549	lung:	n/a	n/a
28	SP1	chr6:134212223-134212823	A549	lung:	n/a	chr6:134212795-134212807 chr6:134212796-134212806 chr6:134212797-134212806 chr6:134212796-134212810 chr6:134212795-134212807
29	CTCF	chr6:134212440-134212590	SAEC	small airway:	n/a	n/a
30	SIN3A	chr6:134212433-134212633	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:134212270-134213178	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr6:134212344-134212755	Hela-S3	cervix:	n/a	n/a
33	ESR1	chr6:134212341-134212604	ECC-1	luminal epithelium:	n/a	n/a
34	TCF12	chr6:134212227-134212457	H1-hESC	embryonic stem cell:	n/a	n/a
35	GTF2F1	chr6:134212306-134212713	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr6:134212383-134212550	MCF-7	breast:	n/a	n/a
37	ESR1	chr6:134212337-134212558	ECC-1	luminal epithelium:	n/a	n/a
38	TCF7L2	chr6:134212389-134212901	HEK293	kidney:	n/a	chr6:134212772-134212781 chr6:134212769-134212783
39	RCOR1	chr6:134212308-134212837	Hela-S3	cervix:	n/a	n/a
40	TCF7L2	chr6:134212247-134213002	Hela-S3	cervix:	n/a	chr6:134212772-134212781 chr6:134212769-134212783
41	ESR1	chr6:134212229-134212588	ECC-1	luminal epithelium:	n/a	n/a
42	MAX	chr6:134212269-134212746	Hela-S3	cervix:	n/a	n/a
43	MAX	chr6:134212165-134213119	A549	lung:	n/a	n/a
44	TCF12	chr6:134212127-134212955	A549	lung:	n/a	n/a
45	CTCF	chr6:134212406-134212455	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr6:134212373-134212509	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000227954	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1577613	1.00[AMR][1000 genomes]
rs17062922	0.89[YRI][hapmap]
rs17062978	1.00[AMR][1000 genomes]
rs17062998	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17063109	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17063128	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41406249	0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs6569915	0.87[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6917396	1.00[AMR][1000 genomes]
rs6922477	1.00[AMR][1000 genomes]
rs6934561	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6934895	1.00[AMR][1000 genomes]
rs6940630	0.80[AFR][1000 genomes]
rs6941444	1.00[AMR][1000 genomes]
rs7744608	0.81[AFR][1000 genomes]
rs7765728	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134209200-134215200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
2	chr6:134209400-134214000	Active TSS	Ovary	ovary
3	chr6:134209800-134213200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:134209800-134213200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:134210000-134213000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
6	chr6:134210000-134213000	Bivalent/Poised TSS	Left Ventricle	heart
7	chr6:134210000-134213200	Bivalent/Poised TSS	Fetal Stomach	stomach
8	chr6:134210000-134214000	Active TSS	NHLF	lung
9	chr6:134210200-134213000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:134210400-134212800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:134211200-134212800	Bivalent/Poised TSS	NHDF-Ad	bronchial
12	chr6:134211200-134213600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:134211200-134214400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
14	chr6:134211600-134213200	Bivalent/Poised TSS	Osteobl	bone
15	chr6:134211800-134212600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
16	chr6:134211800-134213200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:134211800-134213200	Active TSS	Hela-S3	cervix
18	chr6:134211800-134213800	Active TSS	A549	lung
19	chr6:134212000-134212600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:134212000-134212600	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:134212000-134212600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
22	chr6:134212000-134212600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
23	chr6:134212000-134212800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:134212000-134212800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
25	chr6:134212000-134212800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
26	chr6:134212000-134212800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
27	chr6:134212000-134213000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
28	chr6:134212000-134213000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
29	chr6:134212000-134213000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:134212000-134213000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
31	chr6:134212000-134213000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
32	chr6:134212000-134213000	Active TSS	HSMM	muscle
33	chr6:134212000-134213200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
34	chr6:134212000-134213200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr6:134212000-134213200	Bivalent/Poised TSS	Psoas Muscle	Psoas
36	chr6:134212200-134212600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
37	chr6:134212200-134212600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
38	chr6:134212200-134212600	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:134212200-134212600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:134212200-134212600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:134212200-134212600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:134212200-134212600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:134212200-134212600	Active TSS	Aorta	Aorta
44	chr6:134212200-134212600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
45	chr6:134212200-134212600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
46	chr6:134212200-134212600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
47	chr6:134212200-134212600	Bivalent Enhancer	Fetal Brain Female	brain
48	chr6:134212200-134212600	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
49	chr6:134212200-134212600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
50	chr6:134212200-134212600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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