Variant report

Variant	rs55887902
Chromosome Location	chr7:64407725-64407726
allele	C/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	ZBTB7A	chr7:64407283-64408476	ECC-1	luminal epithelium:	n/a	chr7:64407331-64407340 chr7:64408250-64408259
2	CHD2	chr7:64407647-64408275	HepG2	liver:	n/a	n/a
3	MAX	chr7:64407566-64408055	H1-hESC	embryonic stem cell:	n/a	chr7:64407823-64407830 chr7:64407601-64407616 chr7:64407605-64407614 chr7:64407602-64407612 chr7:64407823-64407832
4	ZNF263	chr7:64407065-64407799	K562	blood:	n/a	n/a
5	MAX	chr7:64407569-64408261	ECC-1	luminal epithelium:	n/a	chr7:64407823-64407830 chr7:64407601-64407616 chr7:64407605-64407614 chr7:64407602-64407612 chr7:64407823-64407832
6	ZNF263	chr7:64406919-64407764	HEK293-T-REx	kidney:	n/a	n/a
7	ZBTB7A	chr7:64407640-64408531	ECC-1	luminal epithelium:	n/a	chr7:64408250-64408259
8	E2F6	chr7:64407662-64408124	H1-hESC	embryonic stem cell:	n/a	n/a
9	SMC3	chr7:64406965-64407929	SK-N-SH	brain:	n/a	chr7:64407332-64407346 chr7:64407844-64407854 chr7:64407332-64407342 chr7:64407834-64407844
10	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
11	TBP	chr7:64407707-64407764	H1-hESC	embryonic stem cell:	n/a	n/a
12	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
13	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
14	MAX	chr7:64407191-64408265	MCF-7	breast:	n/a	chr7:64407823-64407830 chr7:64407601-64407616 chr7:64407605-64407614 chr7:64407602-64407612 chr7:64407823-64407832
15	MYC	chr7:64407681-64407903	H1-hESC	embryonic stem cell:	n/a	chr7:64407823-64407830 chr7:64407823-64407832
16	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: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10240146	0.86[ASN][1000 genomes]
rs11773349	0.93[ASN][1000 genomes]
rs4273744	0.84[ASN][1000 genomes]
rs4392773	0.86[ASN][1000 genomes]
rs55780785	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56130756	0.83[AMR][1000 genomes]
rs56214350	0.82[ASN][1000 genomes]
rs56364688	0.83[AMR][1000 genomes]
rs56391048	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56785930	0.86[ASN][1000 genomes]
rs58676599	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58757160	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58769499	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59477017	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59666562	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59954648	0.81[ASN][1000 genomes]
rs60779365	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67047829	0.92[AMR][1000 genomes]
rs67686910	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6956537	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6976546	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6978473	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73132347	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73132368	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73132377	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73137851	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137865	0.85[EUR][1000 genomes]
rs73139811	0.92[AMR][1000 genomes]
rs7782095	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7784902	0.90[ASN][1000 genomes]
rs7788090	0.91[ASN][1000 genomes]
rs7789856	0.92[AMR][1000 genomes]
rs7808498	0.90[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55887902	VKORC1L1	cis	Whole Blood	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64407200-64408400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
2	chr7:64407200-64408400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
3	chr7:64407200-64408400	Bivalent Enhancer	Fetal Brain Male	brain
4	chr7:64407400-64407800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:64407400-64407800	Enhancers	Liver	Liver
6	chr7:64407400-64407800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
7	chr7:64407400-64407800	Active TSS	Psoas Muscle	Psoas
8	chr7:64407400-64407800	Bivalent Enhancer	Stomach Mucosa	stomach
9	chr7:64407400-64408000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
10	chr7:64407400-64408000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:64407400-64408000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
12	chr7:64407400-64408000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
13	chr7:64407400-64408200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:64407400-64408200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:64407400-64408200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
16	chr7:64407400-64408400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr7:64407400-64408400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:64407400-64408400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr7:64407400-64408400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr7:64407400-64408400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr7:64407400-64408400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:64407400-64408400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr7:64407400-64408400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
24	chr7:64407400-64408400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:64407400-64408400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:64407400-64408400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:64407400-64408400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:64407400-64408400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
29	chr7:64407400-64408400	Bivalent Enhancer	Placenta	Placenta
30	chr7:64407400-64408400	Flanking Active TSS	Right Ventricle	heart
31	chr7:64407400-64408400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
32	chr7:64407400-64408600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr7:64407400-64408600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr7:64407400-64408600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr7:64407400-64408600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr7:64407400-64408800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr7:64407600-64407800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:64407600-64407800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:64407600-64407800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
40	chr7:64407600-64407800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:64407600-64407800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:64407600-64407800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
43	chr7:64407600-64407800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
44	chr7:64407600-64407800	Bivalent Enhancer	Colonic Mucosa	Colon
45	chr7:64407600-64407800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
46	chr7:64407600-64407800	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chr7:64407600-64407800	Bivalent Enhancer	Left Ventricle	heart
48	chr7:64407600-64407800	Enhancers	Lung	lung
49	chr7:64407600-64407800	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
50	chr7:64407600-64407800	Active TSS	HepG2	liver

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