Variant report

Variant	rs66966963
Chromosome Location	chr7:152456909-152456910
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	ATF2	chr7:152456593-152456942	GM12878	blood:	n/a	chr7:152456810-152456821
2	TAF1	chr7:152456484-152457399	ECC-1	luminal epithelium:	n/a	n/a
3	CCNT2	chr7:152456699-152457514	K562	blood:	n/a	chr7:152456752-152456761
4	RAD21	chr7:152456785-152457042	HepG2	liver:	n/a	n/a
5	TAF7	chr7:152456741-152457082	H1-hESC	embryonic stem cell:	n/a	n/a
6	CREB1	chr7:152456526-152457105	H1-hESC	embryonic stem cell:	n/a	chr7:152456809-152456822
7	HCFC1	chr7:152456378-152457642	K562	blood:	n/a	n/a
8	ETS1	chr7:152456533-152457046	GM12878	blood:	n/a	chr7:152456897-152456908
9	MAX	chr7:152456506-152457706	K562	blood:	n/a	chr7:152457282-152457292 chr7:152457287-152457297 chr7:152457287-152457298 chr7:152457284-152457299 chr7:152457286-152457295 chr7:152457288-152457298 chr7:152457288-152457297 chr7:152457287-152457298 chr7:152456816-152456825 chr7:152456816-152456825 chr7:152457288-152457297 chr7:152457286-152457301 chr7:152457286-152457299 chr7:152457288-152457297
10	JUN	chr7:152456523-152457472	K562	blood:	n/a	chr7:152456811-152456820 chr7:152456769-152456778 chr7:152456791-152456800
11	MAX	chr7:152456757-152457577	HepG2	liver:	n/a	chr7:152457282-152457292 chr7:152457287-152457297 chr7:152457287-152457298 chr7:152457284-152457299 chr7:152457286-152457295 chr7:152457288-152457298 chr7:152457288-152457297 chr7:152457287-152457298 chr7:152456816-152456825 chr7:152456816-152456825 chr7:152457288-152457297 chr7:152457286-152457301 chr7:152457286-152457299 chr7:152457288-152457297
12	CTCF	chr7:152456900-152457050	GM12869	blood:	n/a	n/a
13	NFYB	chr7:152456725-152456965	Hela-S3	cervix:	n/a	chr7:152456791-152456804 chr7:152456789-152456804 chr7:152456791-152456806 chr7:152456789-152456804 chr7:152456790-152456804
14	RCOR1	chr7:152456529-152457930	Hela-S3	cervix:	n/a	n/a
15	EP300	chr7:152456894-152457047	HepG2	liver:	n/a	chr7:152456896-152456905
16	TBL1XR1	chr7:152456370-152457518	K562	blood:	n/a	n/a
17	REST	chr7:152456710-152457549	K562	blood:	n/a	chr7:152457052-152457062 chr7:152456880-152456893
18	POLR2A	chr7:152456663-152457351	A549	lung:	n/a	n/a
19	BRCA1	chr7:152456327-152456990	Hela-S3	cervix:	n/a	n/a
20	TBP	chr7:152456404-152456985	GM12878	blood:	n/a	n/a
21	MYC	chr7:152456908-152456987	MCF-7	breast:	n/a	n/a
22	POLR2A	chr7:152456650-152457136	HUVEC	blood vessel:	n/a	n/a
23	TAF1	chr7:152456557-152457423	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAZ	chr7:152456430-152458375	K562	blood:	n/a	chr7:152457282-152457292 chr7:152457287-152457297 chr7:152457287-152457298 chr7:152457284-152457299 chr7:152457286-152457295 chr7:152457288-152457298 chr7:152457288-152457297 chr7:152457287-152457298 chr7:152456816-152456825 chr7:152456816-152456825 chr7:152457288-152457297 chr7:152457286-152457301 chr7:152457286-152457299 chr7:152457288-152457297
25	SMC3	chr7:152456564-152457938	Hela-S3	cervix:	n/a	chr7:152457134-152457144 chr7:152457058-152457068
26	USF1	chr7:152456609-152457046	ECC-1	luminal epithelium:	n/a	chr7:152456931-152456947 chr7:152456814-152456825 chr7:152456840-152456856
27	HEY1	chr7:152456492-152458514	K562	blood:	n/a	chr7:152456889-152456904 chr7:152456853-152456868 chr7:152456847-152456862 chr7:152457108-152457123 chr7:152456844-152456859 chr7:152456810-152456819 chr7:152456941-152456956 chr7:152456943-152456958 chr7:152456812-152456821 chr7:152457049-152457064
28	MAX	chr7:152456432-152457772	NB4	blood:	n/a	chr7:152457282-152457292 chr7:152457287-152457297 chr7:152457287-152457298 chr7:152457284-152457299 chr7:152457286-152457295 chr7:152457288-152457298 chr7:152457288-152457297 chr7:152457287-152457298 chr7:152456816-152456825 chr7:152456816-152456825 chr7:152457288-152457297 chr7:152457286-152457301 chr7:152457286-152457299 chr7:152457288-152457297
29	TBP	chr7:152456491-152457263	HepG2	liver:	n/a	n/a
30	CTCF	chr7:152456860-152457010	GM12873	blood:	n/a	n/a
31	USF2	chr7:152456722-152457580	H1-hESC	embryonic stem cell:	n/a	chr7:152456931-152456947 chr7:152456840-152456856
32	RCOR1	chr7:152456391-152457088	GM12878	blood:	n/a	n/a
33	RUNX3	chr7:152456442-152456996	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:152456507-152457013	SK-N-MC	brain:	n/a	n/a
35	YY1	chr7:152456470-152456996	NT2-D1	testis:	n/a	chr7:152456732-152456744 chr7:152456733-152456741 chr7:152456933-152456947 chr7:152456722-152456744
36	POLR2A	chr7:152456594-152457270	MCF-7	breast:	n/a	n/a
37	TAF1	chr7:152456750-152457012	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr7:152456552-152457091	SK-N-SH	brain:	n/a	n/a
39	CREB1	chr7:152456485-152457321	H1-hESC	embryonic stem cell:	n/a	chr7:152456809-152456822
40	MYC	chr7:152456476-152458144	MCF10A-Er-Src	breast:	n/a	chr7:152457282-152457292 chr7:152457287-152457297 chr7:152457287-152457298 chr7:152457284-152457299 chr7:152457286-152457295 chr7:152457288-152457298 chr7:152457288-152457297 chr7:152457287-152457298 chr7:152456816-152456825 chr7:152456816-152456825 chr7:152457288-152457297 chr7:152457286-152457301 chr7:152457286-152457299 chr7:152457288-152457297
41	RFX5	chr7:152456561-152457589	HepG2	liver:	n/a	chr7:152456792-152456801
42	TAF1	chr7:152456676-152457025	Hela-S3	cervix:	n/a	n/a
43	SIN3A	chr7:152456582-152457165	GM12878	blood:	n/a	chr7:152456900-152456911
44	HEY1	chr7:152456550-152457660	K562	blood:	n/a	chr7:152456889-152456904 chr7:152456853-152456868 chr7:152456847-152456862 chr7:152457108-152457123 chr7:152456844-152456859 chr7:152456810-152456819 chr7:152456941-152456956 chr7:152456943-152456958 chr7:152456812-152456821 chr7:152457049-152457064
45	POU2F2	chr7:152456754-152457024	GM12878	blood:	n/a	chr7:152456933-152456945 chr7:152456767-152456779
46	GABPA	chr7:152456691-152456982	HepG2	liver:	n/a	chr7:152456896-152456905 chr7:152456883-152456892
47	MAX	chr7:152456423-152457817	ECC-1	luminal epithelium:	n/a	chr7:152457282-152457292 chr7:152457287-152457297 chr7:152457287-152457298 chr7:152457284-152457299 chr7:152457286-152457295 chr7:152457288-152457298 chr7:152457288-152457297 chr7:152457287-152457298 chr7:152456816-152456825 chr7:152456816-152456825 chr7:152457288-152457297 chr7:152457286-152457301 chr7:152457286-152457299 chr7:152457288-152457297
48	SIN3AK20	chr7:152456573-152457570	PANC-1	pancreas:	n/a	n/a
49	JUND	chr7:152456789-152456972	H1-hESC	embryonic stem cell:	n/a	chr7:152456811-152456820 chr7:152456791-152456800
50	CEBPD	chr7:152456511-152457007	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:52209825..52210743-chr7:152456859..152457654,2	MCF-7	breast:
2	chr20:10414863..10415492-chr7:152456848..152457532,2	Hela-S3	cervix:
3	chr16:46823466..46824461-chr7:152456864..152457453,2	Hela-S3	cervix:
4	chr7:152159214..152163397-chr7:152455316..152459065,6	MCF-7	breast:
5	chr7:152159418..152164481-chr7:152455770..152458995,5	K562	blood:
6	chr7:152372618..152374953-chr7:152456032..152458958,3	MCF-7	breast:
7	chr17:56708899..56709630-chr7:152456555..152457179,2	NB4	blood:
8	chr7:152442786..152449495-chr7:152455161..152460241,10	K562	blood:
9	chr7:152289285..152292050-chr7:152455800..152457352,2	K562	blood:
10	chr12:90102652..90103165-chr7:152456792..152457440,2	Hela-S3	cervix:
11	chr7:152371235..152373485-chr7:152456876..152459275,3	K562	blood:
12	chr7:151721857..151723764-chr7:152455649..152457553,2	K562	blood:
13	chr7:152453911..152455886-chr7:152456348..152457973,2	MCF-7	breast:
14	chr3:185654719..185655358-chr7:152456562..152457241,2	Hela-S3	cervix:

Variant related genes	Relation type
ACTR3B	TF binding region
ENSG00000212195	Chromatin interaction
ENSG00000261455	Chromatin interaction
ENSG00000271614	Chromatin interaction
ENSG00000260782	Chromatin interaction
ENSG00000196584	Chromatin interaction
ENSG00000140795	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000070961	Chromatin interaction
ENSG00000178234	Chromatin interaction
ENSG00000136527	Chromatin interaction
ENSG00000214003	Chromatin interaction
ENSG00000199404	Chromatin interaction
ENSG00000244328	Chromatin interaction
ENSG00000125863	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10952372	0.87[ASN][1000 genomes]
rs35633771	0.93[ASN][1000 genomes]
rs4410819	0.92[ASN][1000 genomes]
rs6969156	0.93[ASN][1000 genomes]
rs73166477	0.86[ASN][1000 genomes]
rs9969169	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949483	chr7:151791158-152499822	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1021495	chr7:152032655-152458249	Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv539207	chr7:152032655-152458249	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1033496	chr7:152125903-152615617	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv539208	chr7:152125903-152615617	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv1027100	chr7:152294734-152935140	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv831193	chr7:152353544-152592678	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv532221	chr7:152371297-152884547	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv868873	chr7:152371297-152900113	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152456000-152458000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:152456200-152457000	Active TSS	Primary B cells from cord blood	blood
3	chr7:152456200-152457000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr7:152456200-152457200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:152456200-152457400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:152456200-152457400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:152456200-152457400	Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr7:152456200-152457400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr7:152456200-152457400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:152456200-152457400	Active TSS	Duodenum Mucosa	Duodenum
11	chr7:152456200-152457400	Active TSS	Right Atrium	heart
12	chr7:152456200-152457400	Active TSS	Stomach Smooth Muscle	stomach
13	chr7:152456200-152457400	Active TSS	K562	blood
14	chr7:152456200-152457400	Active TSS	NH-A	brain
15	chr7:152456200-152457600	Active TSS	Brain Anterior Caudate	brain
16	chr7:152456200-152457800	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:152456200-152457800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:152456200-152457800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr7:152456200-152457800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:152456200-152457800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr7:152456200-152457800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr7:152456200-152458000	Active TSS	H1 Cell Line	embryonic stem cell
23	chr7:152456200-152458000	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr7:152456200-152458000	Active TSS	Fetal Brain Female	brain
25	chr7:152456200-152458200	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr7:152456200-152458200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:152456200-152458200	Active TSS	Fetal Kidney	kidney
28	chr7:152456400-152457000	Active TSS	Primary hematopoietic stem cells	blood
29	chr7:152456400-152457000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:152456400-152457000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:152456400-152457000	Active TSS	Brain Germinal Matrix	brain
32	chr7:152456400-152457200	Active TSS	Pancreas	Pancrea
33	chr7:152456400-152457200	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr7:152456400-152457400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:152456400-152457400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:152456400-152457400	Active TSS	Primary monocytes fromperipheralblood	blood
37	chr7:152456400-152457400	Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr7:152456400-152457400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:152456400-152457400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:152456400-152457400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr7:152456400-152457400	Active TSS	Liver	Liver
42	chr7:152456400-152457400	Active TSS	Brain Substantia Nigra	brain
43	chr7:152456400-152457400	Active TSS	Colonic Mucosa	Colon
44	chr7:152456400-152457400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr7:152456400-152457400	Active TSS	Fetal Intestine Small	intestine
46	chr7:152456400-152457400	Active TSS	Fetal Lung	lung
47	chr7:152456400-152457400	Active TSS	Fetal Muscle Leg	muscle
48	chr7:152456400-152457400	Active TSS	Placenta	Placenta
49	chr7:152456400-152457400	Active TSS	Fetal Thymus	thymus
50	chr7:152456400-152457400	Active TSS	Lung	lung

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