Variant report

Variant	rs1830080
Chromosome Location	chr7:64389067-64389068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:64388915-64389196	HL-60	blood:	n/a	n/a
2	CBX3	chr7:64388907-64389469	K562	blood:	n/a	n/a
3	SETDB1	chr7:64388145-64390090	K562	blood:	n/a	n/a
4	ZNF274	chr7:64386531-64390194	K562	blood:	n/a	n/a
5	ZNF274	chr7:64388912-64389660	NT2-D1	testis:	n/a	n/a
6	POLR2A	chr7:64388921-64390191	K562	blood:	n/a	n/a
7	ZNF274	chr7:64388435-64389505	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF12	chr7:64388931-64389451	A549	lung:	n/a	n/a
9	ZNF274	chr7:64388578-64389329	GM12878	blood:	n/a	n/a
10	SETDB1	chr7:64388411-64389871	U2OS	brain:	n/a	n/a
11	TRIM28	chr7:64388748-64389467	K562	blood:	n/a	n/a
12	CBX3	chr7:64388931-64389388	K562	blood:	n/a	n/a
13	ZNF274	chr7:64388621-64389317	HepG2	liver:	n/a	n/a
14	ZNF274	chr7:64388823-64389385	K562	blood:	n/a	n/a
15	KAP1	chr7:64388061-64390127	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64387895..64389888-chr7:64392529..64394180,2	K562	blood:
2	chr7:64384777..64386420-chr7:64388567..64390560,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF273-1	chr7:64388032-64391955	NR_003099

No data

Variant related genes	Relation type
VN1R42P	TF binding region
ENSG00000223476	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10224831	1.00[YRI][hapmap]
rs10239290	1.00[YRI][hapmap]
rs10239449	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243927	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10253614	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258018	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259016	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10259713	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265110	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269760	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333583	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12531509	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531631	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533393	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535862	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537516	1.00[AFR][1000 genomes];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539507	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539509	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1405009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1534148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1830077	0.92[ASN][1000 genomes]
rs1880658	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28398905	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28591657	1.00[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[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28664768	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829005	1.00[AFR][1000 genomes];0.84[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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];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]
rs59122385	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67615162	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72504857	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73354396	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73355758	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73363366	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73363367	1.00[AFR][1000 genomes];1.00[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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884965	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987071	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1033291	chr7:64273434-64406276	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh 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	14 gene(s)	inside rSNPs	diseases
10	nsv508457	chr7:64286522-64391112	Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64367800-64392600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:64368000-64390200	ZNF genes & repeats	Dnd41	blood
3	chr7:64369800-64390400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:64371800-64390000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr7:64372200-64392600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:64375200-64389200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:64375200-64390000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:64376600-64389200	Weak transcription	Right Ventricle	heart
9	chr7:64376800-64389200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:64377600-64389400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr7:64377600-64389600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:64378000-64400800	Weak transcription	Brain Angular Gyrus	brain
13	chr7:64378200-64389200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr7:64378600-64389400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:64379600-64390600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
16	chr7:64381200-64392600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:64382200-64389600	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr7:64382200-64390000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr7:64382200-64391000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:64382600-64389600	ZNF genes & repeats	Liver	Liver
21	chr7:64382800-64389400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:64383000-64389200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
23	chr7:64383000-64389400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
24	chr7:64383000-64390000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
25	chr7:64383000-64391000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr7:64383200-64389400	ZNF genes & repeats	K562	blood
27	chr7:64383600-64390400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr7:64383800-64390600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr7:64384000-64389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:64384600-64392000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:64384800-64389600	Weak transcription	Osteobl	bone
32	chr7:64385000-64390400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:64385600-64389800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
34	chr7:64385600-64389800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr7:64385800-64390000	ZNF genes & repeats	Fetal Brain Female	brain
36	chr7:64386000-64389200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:64386000-64389200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
38	chr7:64386000-64390000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:64386000-64390200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:64386000-64390800	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr7:64386000-64391000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:64386200-64389400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr7:64387000-64389200	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr7:64387000-64389200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
45	chr7:64387000-64389400	ZNF genes & repeats	Psoas Muscle	Psoas
46	chr7:64387200-64389400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:64387200-64389400	ZNF genes & repeats	Brain Germinal Matrix	brain
48	chr7:64387800-64389200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:64387800-64390400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:64387800-64390400	Weak transcription	Esophagus	oesophagus

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