Variant report

Variant	rs59122385
Chromosome Location	chr7:64407555-64407556
allele	A/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	ZBTB7A	chr7:64407283-64408476	ECC-1	luminal epithelium:	n/a	chr7:64407331-64407340 chr7:64408250-64408259
2	USF1	chr7:64407398-64407697	SK-N-SH_RA	brain:	n/a	n/a
3	RAD21	chr7:64407147-64407605	MCF-7	breast:	n/a	chr7:64407328-64407347 chr7:64407332-64407342 chr7:64407331-64407344 chr7:64407330-64407342
4	ZNF263	chr7:64407065-64407799	K562	blood:	n/a	n/a
5	CTCF	chr7:64407500-64407650	HFF-Myc	foreskin:	n/a	n/a
6	USF2	chr7:64407234-64407659	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF263	chr7:64406919-64407764	HEK293-T-REx	kidney:	n/a	n/a
8	SMC3	chr7:64406965-64407929	SK-N-SH	brain:	n/a	chr7:64407332-64407346 chr7:64407844-64407854 chr7:64407332-64407342 chr7:64407834-64407844
9	CTCF	chr7:64406974-64408402	SK-N-SH	brain:	n/a	chr7:64407831-64407844 chr7:64407331-64407347 chr7:64407289-64407302 chr7:64407330-64407348 chr7:64407332-64407345 chr7:64407325-64407346 chr7:64407898-64407911 chr7:64407841-64407854 chr7:64407336-64407345
10	RAD21	chr7:64407197-64407878	H1-hESC	embryonic stem cell:	n/a	chr7:64407328-64407347 chr7:64407843-64407857 chr7:64407332-64407342 chr7:64407331-64407344 chr7:64407330-64407342
11	RAD21	chr7:64406776-64408525	SK-N-SH	brain:	n/a	chr7:64407328-64407347 chr7:64407843-64407857 chr7:64407332-64407342 chr7:64407331-64407344 chr7:64407330-64407342
12	MAX	chr7:64407191-64408265	MCF-7	breast:	n/a	chr7:64407823-64407830 chr7:64407601-64407616 chr7:64407605-64407614 chr7:64407602-64407612 chr7:64407823-64407832
13	USF1	chr7:64407345-64407685	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr7:64407089-64407631	MCF-7	breast:	n/a	chr7:64407331-64407347 chr7:64407289-64407302 chr7:64407330-64407348 chr7:64407332-64407345 chr7:64407325-64407346 chr7:64407336-64407345
15	MAX	chr7:64407328-64407780	H1-hESC	embryonic stem cell:	n/a	chr7:64407601-64407616 chr7:64407605-64407614 chr7:64407602-64407612

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64407101..64409765-chr7:64410479..64412336,2	MCF-7	breast:
2	chr7:64314110..64316754-chr7:64405768..64408146,2	K562	blood:

Variant related genes	Relation type
ENSG00000270948	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10239449	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243927	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10253614	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253636	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256702	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258018	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259016	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10259713	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265110	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269760	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275331	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499782	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333583	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12531509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531631	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533393	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535068	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535862	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536001	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537516	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537864	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537906	0.90[ASN][1000 genomes]
rs12538078	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539165	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539507	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539509	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1405009	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1534148	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146448	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1830077	0.92[ASN][1000 genomes]
rs1830080	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880658	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28398905	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28591657	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2863926	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2863985	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28664768	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829005	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4382350	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4573137	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718164	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58472271	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67615162	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72504857	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73354396	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73355758	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73363366	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73363367	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7783460	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7802123	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884965	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987044	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987071	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	esv3506582	chr7:64323055-64563984	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv3506583	chr7:64323055-64563984	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv1019180	chr7:64329889-64512842	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv888283	chr7:64343985-64511564	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
15	nsv888284	chr7:64406439-64562139	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64400600-64407600	Weak transcription	Right Atrium	heart
2	chr7:64405200-64407600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:64405800-64407600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:64405800-64407600	Enhancers	Esophagus	oesophagus
5	chr7:64406800-64407600	Weak transcription	Fetal Heart	heart
6	chr7:64407000-64407600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:64407000-64407600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
8	chr7:64407200-64407600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:64407200-64407600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr7:64407200-64407600	Enhancers	Ovary	ovary
11	chr7:64407200-64407600	Enhancers	Pancreas	Pancrea
12	chr7:64407200-64407600	Flanking Active TSS	HepG2	liver
13	chr7:64407200-64408400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
14	chr7:64407200-64408400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr7:64407200-64408400	Bivalent Enhancer	Fetal Brain Male	brain
16	chr7:64407400-64407600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:64407400-64407600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
18	chr7:64407400-64407600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr7:64407400-64407600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
20	chr7:64407400-64407600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:64407400-64407600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
22	chr7:64407400-64407600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
23	chr7:64407400-64407600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
24	chr7:64407400-64407600	Bivalent Enhancer	Fetal Stomach	stomach
25	chr7:64407400-64407600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
26	chr7:64407400-64407800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:64407400-64407800	Enhancers	Liver	Liver
28	chr7:64407400-64407800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
29	chr7:64407400-64407800	Active TSS	Psoas Muscle	Psoas
30	chr7:64407400-64407800	Bivalent Enhancer	Stomach Mucosa	stomach
31	chr7:64407400-64408000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
32	chr7:64407400-64408000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:64407400-64408000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
34	chr7:64407400-64408000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
35	chr7:64407400-64408200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:64407400-64408200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:64407400-64408200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
38	chr7:64407400-64408400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr7:64407400-64408400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:64407400-64408400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr7:64407400-64408400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr7:64407400-64408400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr7:64407400-64408400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:64407400-64408400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr7:64407400-64408400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
46	chr7:64407400-64408400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:64407400-64408400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:64407400-64408400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:64407400-64408400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:64407400-64408400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain

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