Variant report

Variant	rs7555065
Chromosome Location	chr1:45204967-45204968
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:136)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:136 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr1:45204852-45205726	K562	blood:	n/a	chr1:45205357-45205371 chr1:45205457-45205471
2	POLR2A	chr1:45204789-45206347	K562	blood:	n/a	n/a
3	TBP	chr1:45204957-45206190	K562	blood:	n/a	n/a
4	NFIC	chr1:45204907-45205751	GM12878	blood:	n/a	n/a
5	FOS	chr1:45204790-45205593	MCF10A-Er-Src	breast:	n/a	n/a
6	CREB1	chr1:45204958-45205840	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr1:45204961-45206017	HepG2	liver:	n/a	n/a
8	ELK1	chr1:45204938-45205684	K562	blood:	n/a	n/a
9	NRF1	chr1:45204914-45206146	SK-N-SH	brain:	n/a	chr1:45205489-45205500
10	POLR2A	chr1:45204879-45205810	HCT-116	colon:	n/a	n/a
11	NFIC	chr1:45204774-45205709	GM12878	blood:	n/a	n/a
12	TCF12	chr1:45204949-45205886	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr1:45204844-45205875	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:45204921-45206119	GM19099	blood:	n/a	n/a
15	POLR2A	chr1:45204680-45206288	SK-N-MC	brain:	n/a	n/a
16	MAX	chr1:45204949-45205971	SK-N-SH	brain:	n/a	n/a
17	CBX3	chr1:45204809-45205685	K562	blood:	n/a	n/a
18	HCFC1	chr1:45204808-45206322	Hela-S3	cervix:	n/a	n/a
19	MAX	chr1:45204789-45206101	NB4	blood:	n/a	n/a
20	POLR2A	chr1:45204964-45205816	SK-N-MC	brain:	n/a	n/a
21	E2F6	chr1:45204882-45205858	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr1:45204937-45205755	ECC-1	luminal epithelium:	n/a	n/a
23	EP300	chr1:45204896-45205878	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr1:45204892-45205797	SK-N-SH	brain:	n/a	n/a
25	GTF3C2	chr1:45204745-45205377	Hela-S3	cervix:	n/a	n/a
26	ZC3H11A	chr1:45204958-45205746	K562	blood:	n/a	n/a
27	TEAD4	chr1:45204935-45205551	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:45204912-45205856	PFSK-1	brain:	n/a	n/a
29	TCF12	chr1:45204916-45205786	ECC-1	luminal epithelium:	n/a	n/a
30	KAP1	chr1:45204926-45205949	U2OS	brain:	n/a	n/a
31	CEBPB	chr1:45204776-45205697	GM12878	blood:	n/a	n/a
32	EP300	chr1:45204922-45205548	K562	blood:	n/a	n/a
33	POLR2A	chr1:45204873-45206351	GM12892	blood:	n/a	n/a
34	POLR2A	chr1:45204804-45206259	K562	blood:	n/a	n/a
35	MAX	chr1:45204700-45206280	K562	blood:	n/a	n/a
36	POLR2A	chr1:45204941-45206324	PBDE	blood:	n/a	n/a
37	GTF3C2	chr1:45204787-45205522	K562	blood:	n/a	n/a
38	STAT3	chr1:45204957-45205615	GM12878	blood:	n/a	chr1:45205337-45205345
39	REST	chr1:45204922-45206065	HL-60	blood:	n/a	chr1:45205349-45205356
40	MYC	chr1:45204749-45205878	K562	blood:	n/a	n/a
41	MAX	chr1:45204857-45205792	A549	lung:	n/a	n/a
42	STAT5A	chr1:45204693-45205972	K562	blood:	n/a	chr1:45205337-45205345 chr1:45205768-45205780
43	POLR2A	chr1:45204791-45205814	HCT-116	colon:	n/a	n/a
44	MAZ	chr1:45204949-45205602	HepG2	liver:	n/a	n/a
45	JUN	chr1:45204823-45205023	HepG2	liver:	n/a	n/a
46	RPC155	chr1:45204840-45205351	Hela-S3	cervix:	n/a	n/a
47	CBX3	chr1:45204692-45205766	K562	blood:	n/a	n/a
48	MXI1	chr1:45204778-45206106	IMR90	lung:	n/a	n/a
49	SIN3AK20	chr1:45204816-45206129	MCF-7	breast:	n/a	n/a
50	SIN3A	chr1:45204922-45205989	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45204937..45205829-chr10:121632304..121633151,2	HCT-116	colon:
2	chr1:45203367..45205545-chr1:45283633..45285875,3	MCF-7	breast:
3	chr1:45185270..45188395-chr1:45203453..45205490,5	MCF-7	breast:
4	chr1:45203850..45207286-chr1:45238882..45241584,6	MCF-7	breast:
5	chr1:45203441..45205480-chr1:45305972..45309901,3	K562	blood:
6	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
7	chr1:45202642..45205441-chr1:45208047..45209564,2	MCF-7	breast:
8	chr1:45204918..45205418-chr11:75945782..75946374,2	NB4	blood:
9	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
10	chr1:45193557..45198509-chr1:45202622..45207012,16	MCF-7	breast:
11	chr1:45204011..45207083-chr1:45240823..45243671,4	MCF-7	breast:

No data

Variant related genes	Relation type
KIF2C	TF binding region
ENSG00000199377	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000197771	Chromatin interaction
ENSG00000226499	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000142937	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10127448	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10465818	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11211027	0.81[AMR][1000 genomes]
rs11211030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11211034	0.88[ASN][1000 genomes]
rs11584031	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs11801067	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11808189	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11808852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12059964	0.88[CEU][hapmap];0.86[YRI][hapmap]
rs12094028	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12117881	0.83[ASN][1000 genomes]
rs12136048	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12136099	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12410588	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12732939	0.84[YRI][hapmap]
rs12742914	0.88[ASN][1000 genomes]
rs12746270	0.83[YRI][hapmap]
rs16832228	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs263986	0.81[JPT][hapmap]
rs3820586	0.83[YRI][hapmap]
rs4542248	0.92[EUR][1000 genomes]
rs6429548	0.96[CEU][hapmap];0.86[YRI][hapmap];0.93[EUR][1000 genomes]
rs6656337	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6658470	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6666987	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6671255	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6678729	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6685176	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6688710	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6689911	0.83[YRI][hapmap]
rs7512710	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7518836	0.91[ASN][1000 genomes]
rs7524446	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs7525308	0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap]
rs7534487	0.84[YRI][hapmap]
rs7536146	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7550170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9988580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
7	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
8	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
9	nsv998871	chr1:45196587-45251179	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	171 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45189800-45205000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:45198000-45205000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:45203800-45205600	Active TSS	Right Ventricle	heart
4	chr1:45203800-45205800	Active TSS	Thymus	Thymus
5	chr1:45203800-45206400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:45203800-45206600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:45204000-45205400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:45204000-45206200	Active TSS	Esophagus	oesophagus
9	chr1:45204200-45205000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:45204200-45205400	Active TSS	Primary T cells fromperipheralblood	blood
11	chr1:45204200-45205400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:45204200-45205600	Active TSS	Colon Smooth Muscle	Colon
13	chr1:45204200-45205600	Active TSS	Fetal Thymus	thymus
14	chr1:45204200-45205600	Active TSS	Psoas Muscle	Psoas
15	chr1:45204200-45205800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:45204400-45205000	Weak transcription	Left Ventricle	heart
17	chr1:45204600-45205400	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr1:45204800-45205000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:45204800-45205000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr1:45204800-45205000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:45204800-45205000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:45204800-45205000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr1:45204800-45205000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:45204800-45205000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:45204800-45205000	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr1:45204800-45205000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr1:45204800-45205000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr1:45204800-45205000	Flanking Active TSS	Fetal Heart	heart
29	chr1:45204800-45205000	Flanking Active TSS	Fetal Kidney	kidney
30	chr1:45204800-45205000	Flanking Active TSS	Fetal Lung	lung
31	chr1:45204800-45205000	Active TSS	Placenta	Placenta
32	chr1:45204800-45205000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr1:45204800-45205000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr1:45204800-45205000	Flanking Active TSS	Stomach Mucosa	stomach
35	chr1:45204800-45205000	Flanking Active TSS	A549	lung
36	chr1:45204800-45205000	Flanking Active TSS	Hela-S3	cervix
37	chr1:45204800-45205000	Flanking Active TSS	HepG2	liver
38	chr1:45204800-45205000	Flanking Active TSS	HUVEC	blood vessel
39	chr1:45204800-45205000	Flanking Active TSS	NHEK	skin
40	chr1:45204800-45205200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:45204800-45205200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:45204800-45205200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr1:45204800-45205200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr1:45204800-45205200	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr1:45204800-45205200	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr1:45204800-45205200	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr1:45204800-45205200	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr1:45204800-45205200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr1:45204800-45205200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:45204800-45205200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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