Variant report

Variant	rs17061214
Chromosome Location	chr6:101325715-101325716
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	MXI1	chr6:101325631-101325822	GM12878	blood:	n/a	n/a
2	YY1	chr6:101325699-101325990	H1-hESC	embryonic stem cell:	n/a	chr6:101325863-101325875
3	TEAD4	chr6:101325640-101325959	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr6:101325502-101325797	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:101325658-101325735	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr6:101325628-101326024	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr6:101325702-101325921	MCF10A-Er-Src	breast:	n/a	n/a
8	MAX	chr6:101325689-101326068	H1-hESC	embryonic stem cell:	n/a	n/a
9	RCOR1	chr6:101325697-101325833	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:101319726..101322538-chr6:101323434..101327261,5	K562	blood:
2	chr6:101324614..101326514-chr6:101327615..101329304,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260000	TF binding region
ENSG00000112249	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10485299	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11969893	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17054273	0.81[AFR][1000 genomes]
rs17061100	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2201495	0.81[AFR][1000 genomes]
rs57169693	0.86[AFR][1000 genomes]
rs59321237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60569953	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6927313	0.81[AFR][1000 genomes]
rs72942985	0.83[AFR][1000 genomes]
rs72942988	0.83[AFR][1000 genomes]
rs72945134	0.81[AFR][1000 genomes]
rs72945178	0.88[AMR][1000 genomes]
rs72946452	0.87[EUR][1000 genomes]
rs72947044	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72947057	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9689068	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv2763587	chr6:101277874-101510491	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101269200-101326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:101285600-101326600	Weak transcription	NHLF	lung
3	chr6:101291200-101326400	Weak transcription	Brain Anterior Caudate	brain
4	chr6:101294600-101328600	Weak transcription	Spleen	Spleen
5	chr6:101295000-101325800	Weak transcription	Brain Angular Gyrus	brain
6	chr6:101295000-101325800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:101297000-101327200	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:101297000-101328200	Weak transcription	Ovary	ovary
9	chr6:101300200-101326600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:101300200-101328400	Weak transcription	Esophagus	oesophagus
11	chr6:101300200-101328400	Weak transcription	Lung	lung
12	chr6:101302600-101327800	Weak transcription	Stomach Mucosa	stomach
13	chr6:101304200-101326600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:101304400-101327800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:101305000-101327800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:101309800-101326600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:101311600-101326400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:101311600-101327800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:101311800-101326400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:101311800-101326600	Weak transcription	Pancreas	Pancrea
21	chr6:101311800-101326600	Weak transcription	Thymus	Thymus
22	chr6:101311800-101328200	Weak transcription	Aorta	Aorta
23	chr6:101311800-101328400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:101311800-101328400	Weak transcription	Left Ventricle	heart
25	chr6:101313000-101327200	Weak transcription	Fetal Intestine Large	intestine
26	chr6:101314800-101326400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:101314800-101326800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:101315200-101327800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:101315600-101327200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:101315800-101325800	Weak transcription	NHEK	skin
31	chr6:101315800-101326400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:101315800-101327200	Weak transcription	Adipose Nuclei	Adipose
33	chr6:101315800-101327200	Weak transcription	Placenta	Placenta
34	chr6:101315800-101327800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:101316000-101325800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr6:101316000-101325800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr6:101316000-101325800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr6:101316000-101326000	Weak transcription	A549	lung
39	chr6:101316000-101326200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr6:101316000-101326400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr6:101316000-101326400	Weak transcription	Osteobl	bone
42	chr6:101316000-101327000	Weak transcription	Brain Hippocampus Middle	brain
43	chr6:101316000-101327400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr6:101316200-101326400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr6:101316200-101327000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:101316400-101326800	Weak transcription	Primary T cells from cord blood	blood
47	chr6:101316400-101327200	Weak transcription	Fetal Thymus	thymus
48	chr6:101316400-101327200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr6:101316600-101327800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr6:101317000-101326400	Weak transcription	NHDF-Ad	bronchial

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