Variant report

Variant	rs17060430
Chromosome Location	chr6:131918737-131918738
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	SPI1	chr6:131918648-131918847	GM12891	blood:	n/a	n/a
2	RAD21	chr6:131918495-131919005	HepG2	liver:	n/a	chr6:131918780-131918787 chr6:131918770-131918789
3	CTCF	chr6:131918640-131918790	GM12875	blood:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
4	CTCF	chr6:131918640-131918790	HVMF	connective:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
5	CTCF	chr6:131918680-131918830	Caco-2	colon:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
6	CTCF	chr6:131918680-131918830	NHEK	skin:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
7	CTCF	chr6:131918720-131918870	HVMF	connective:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
8	CTCF	chr6:131918720-131918870	GM12864	blood:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
9	CTCF	chr6:131918681-131918866	GM12878	blood:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
10	CTCF	chr6:131918700-131918850	HEK293	kidney:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
11	CTCF	chr6:131918700-131918850	GM12874	blood:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
12	CTCF	chr6:131918620-131918770	HCM	heart:	n/a	n/a
13	RAD21	chr6:131918538-131918978	H1-hESC	embryonic stem cell:	n/a	chr6:131918780-131918787 chr6:131918770-131918789
14	CTCF	chr6:131918720-131918870	HL-60	blood:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
15	RAD21	chr6:131918693-131918998	A549	lung:	n/a	chr6:131918780-131918787 chr6:131918770-131918789
16	CTCF	chr6:131918720-131918870	HFF-Myc	foreskin:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
17	CTCF	chr6:131918640-131918790	GM12865	blood:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
18	CTCF	chr6:131918700-131918850	HepG2	liver:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
19	CTCF	chr6:131918640-131918790	K562	blood:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
20	CTCF	chr6:131918720-131918870	AG04450	lung:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
21	CTCF	chr6:131918726-131918857	Kidney_OC	kidney:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
22	CTCF	chr6:131918720-131918870	BJ	skin:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
23	CTCF	chr6:131918686-131918859	HepG2	liver:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
24	CTCF	chr6:131918680-131918830	HA-sp	spinal cord:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
25	CTCF	chr6:131918680-131918830	HCT-116	colon:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
26	CTCF	chr6:131918660-131918810	HRPEpiC	eye:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
27	CTCF	chr6:131918700-131918850	AG09309	skin:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
28	RAD21	chr6:131918732-131918798	A549	lung:	n/a	chr6:131918780-131918787 chr6:131918770-131918789
29	CTCF	chr6:131918700-131918850	AG04450	lung:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
30	CTCF	chr6:131918700-131918860	MCF-7	breast:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
31	CTCF	chr6:131918640-131918790	GM06990	blood:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
32	CTCF	chr6:131918620-131918770	A549	lung:	n/a	n/a
33	CTCF	chr6:131918680-131918830	AG10803	skin:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
34	CTCF	chr6:131918660-131918810	GM12864	blood:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
35	CTCF	chr6:131918680-131918830	HEEpiC	esophagus:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
36	CTCF	chr6:131918693-131918887	LNCaP	prostate:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
37	CTCF	chr6:131918667-131918857	H1-hESC	embryonic stem cell:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
38	CTCF	chr6:131918700-131918850	GM12868	blood:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
39	CTCF	chr6:131918680-131918830	GM12872	blood:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
40	CTCF	chr6:131918680-131918830	GM12871	blood:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
41	CTCF	chr6:131918720-131918870	HAc	cerebellar:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
42	CTCF	chr6:131918680-131918830	HepG2	liver:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
43	CTCF	chr6:131918680-131918830	HRPEpiC	eye:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
44	RAD21	chr6:131918624-131918929	HepG2	liver:	n/a	chr6:131918780-131918787 chr6:131918770-131918789
45	CTCF	chr6:131918554-131919106	A549	lung:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
46	CTCF	chr6:131918680-131918830	GM12867	blood:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
47	SPI1	chr6:131918654-131919001	HL-60	blood:	n/a	n/a
48	CTCF	chr6:131918720-131918870	GM12873	blood:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788
49	CTCF	chr6:131918620-131918770	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr6:131918660-131918810	HMEC	breast:	n/a	chr6:131918777-131918785 chr6:131918772-131918790 chr6:131918774-131918787 chr6:131918767-131918788

No.	Distal block	Cell Line	Cell type
1	chr6:131526933..131527448-chr6:131918295..131918857,2	MCF-7	breast:
2	chr6:131520534..131521528-chr6:131918620..131919335,3	MCF-7	breast:
3	chr6:131910577..131913590-chr6:131916071..131918750,3	K562	blood:

Variant related genes	Relation type
MED23	TF binding region
ENSG00000112282	Chromatin interaction
ENSG00000118507	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17060390	0.81[JPT][hapmap]
rs17060391	0.81[JPT][hapmap]
rs2297637	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3756780	0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57849806	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73778009	0.82[EUR][1000 genomes]
rs73778022	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9398991	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv886668	chr6:131814865-131954797	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131889600-131923200	Weak transcription	Esophagus	oesophagus
2	chr6:131892400-131941400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:131894000-131948000	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr6:131895600-131946600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:131896400-131946800	Strong transcription	Adipose Nuclei	Adipose
6	chr6:131896600-131946200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr6:131896600-131946800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:131897000-131947800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:131897200-131919600	Weak transcription	Spleen	Spleen
10	chr6:131897200-131947200	Strong transcription	Fetal Thymus	thymus
11	chr6:131897200-131948000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr6:131897400-131923200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:131897800-131931600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr6:131898200-131948600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:131898200-131948600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:131898400-131940000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:131898400-131947400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr6:131898600-131923800	Strong transcription	Primary B cells from cord blood	blood
19	chr6:131899000-131946800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:131899000-131946800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr6:131899000-131946800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr6:131899000-131948000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:131899200-131924200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:131899200-131945800	Strong transcription	HepG2	liver
25	chr6:131899200-131946400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:131899400-131935200	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr6:131899400-131946800	Strong transcription	Placenta	Placenta
28	chr6:131899400-131947400	Strong transcription	Dnd41	blood
29	chr6:131899400-131947800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:131899600-131923800	Strong transcription	Osteobl	bone
31	chr6:131899600-131946800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:131899600-131947800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:131899800-131923800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:131899800-131924200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:131900000-131923200	Strong transcription	Fetal Intestine Large	intestine
36	chr6:131900000-131946800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:131900000-131947000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:131900200-131946600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr6:131900400-131946200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr6:131900800-131947000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr6:131901200-131931600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:131901600-131946800	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:131901600-131947200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr6:131902000-131921200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:131902000-131946200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:131902200-131931800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:131902200-131946800	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr6:131903600-131923800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr6:131903600-131927200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr6:131903800-131946600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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