Variant report

Variant	rs17364568
Chromosome Location	chr2:10830744-10830745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:10830559-10830809	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:10829271-10830756	GM12891	blood:	n/a	n/a
3	HEY1	chr2:10829511-10830890	K562	blood:	n/a	n/a
4	POLR2A	chr2:10829087-10830782	HepG2	liver:	n/a	n/a
5	CTCF	chr2:10830620-10830770	HCM	heart:	n/a	chr2:10830700-10830710
6	CTCF	chr2:10830640-10830790	HRE	kidney:	n/a	chr2:10830700-10830710
7	RCOR1	chr2:10830670-10830781	K562	blood:	n/a	n/a
8	CTCF	chr2:10830640-10830790	MCF-7	breast:	n/a	chr2:10830700-10830710
9	POLR2A	chr2:10829282-10831867	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr2:10829831-10830874	K562	blood:	n/a	n/a
11	NR2F2	chr2:10830407-10830911	K562	blood:	n/a	n/a
12	POLR2A	chr2:10829554-10830806	K562	blood:	n/a	n/a
13	POLR2A	chr2:10830490-10830808	K562	blood:	n/a	n/a
14	POLR2A	chr2:10829626-10831074	K562	blood:	n/a	n/a
15	MXI1	chr2:10829424-10830763	HepG2	liver:	n/a	n/a
16	MYC	chr2:10830657-10830773	K562	blood:	n/a	n/a
17	UBTF	chr2:10830559-10830759	K562	blood:	n/a	n/a
18	POLR2A	chr2:10829782-10830963	GM19193	blood:	n/a	n/a
19	POLR2A	chr2:10830522-10830807	HCT-116	colon:	n/a	n/a
20	GTF3C2	chr2:10829914-10830990	K562	blood:	n/a	n/a
21	CTCF	chr2:10830600-10830750	AG09309	skin:	n/a	chr2:10830700-10830710
22	POLR2A	chr2:10830528-10831020	GM12892	blood:	n/a	n/a
23	MAX	chr2:10830433-10830829	K562	blood:	n/a	n/a
24	MXI1	chr2:10828475-10830867	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr2:10830552-10830745	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:10829770-10830751	K562	blood:	n/a	n/a
27	CBX3	chr2:10830438-10830863	K562	blood:	n/a	n/a
28	EGR1	chr2:10830545-10830806	K562	blood:	n/a	chr2:10830653-10830667 chr2:10830655-10830664 chr2:10830655-10830665 chr2:10830652-10830665
29	MAZ	chr2:10830506-10830790	K562	blood:	n/a	n/a
30	ELF1	chr2:10829650-10830840	GM12878	blood:	n/a	n/a
31	SIN3AK20	chr2:10829290-10830798	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr2:10829497-10830961	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr2:10830438-10830768	GM12878	blood:	n/a	n/a
34	TBP	chr2:10830568-10830755	K562	blood:	n/a	n/a
35	EGR1	chr2:10830514-10830833	K562	blood:	n/a	chr2:10830653-10830667 chr2:10830655-10830664 chr2:10830655-10830665 chr2:10830652-10830665
36	POLR2A	chr2:10830542-10830756	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr2:10829446-10830806	IMR90	lung:	n/a	n/a
38	POLR2A	chr2:10829839-10831021	PANC-1	pancreas:	n/a	n/a
39	JUND	chr2:10830522-10830767	K562	blood:	n/a	n/a
40	RCOR1	chr2:10830609-10830779	HepG2	liver:	n/a	n/a
41	CTCF	chr2:10830600-10830750	GM06990	blood:	n/a	chr2:10830700-10830710
42	POLR2A	chr2:10830565-10830775	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr2:10830496-10830890	GM12891	blood:	n/a	n/a
44	POLR2A	chr2:10829691-10830802	GM12892	blood:	n/a	n/a
45	MAX	chr2:10829279-10830879	HCT-116	colon:	n/a	n/a
46	RCOR1	chr2:10829601-10830819	K562	blood:	n/a	n/a
47	TAF1	chr2:10830440-10830826	SK-N-SH	brain:	n/a	n/a
48	MAX	chr2:10829335-10830872	HCT-116	colon:	n/a	n/a
49	CTCF	chr2:10830620-10830770	AG04450	lung:	n/a	chr2:10830700-10830710
50	POLR2A	chr2:10829608-10830871	GM18505	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:10830716-10830766	U87	brain:	n/a
2	chr2:10830698-10830748	A549	lung:	n/a
3	chr2:10830698-10830748	HAEpiC	amniotic membrane:	n/a
4	chr2:10830716-10830766	SKMC	muscle:	n/a
5	chr2:10830716-10830766	A549	lung:	n/a
6	chr2:10830716-10830766	HL-60	blood:	n/a
7	chr2:10830698-10830748	K562	blood:	n/a
8	chr2:10830716-10830766	SK-N-SH_RA	brain:	n/a
9	chr2:10830698-10830748	HMEC	breast:	n/a
10	chr2:10830716-10830766	HCT-116	colon:	n/a
11	chr2:10830716-10830766	Hela-S3	cervix:	n/a
12	chr2:10830716-10830766	LNCaP	prostate:	n/a
13	chr2:10830698-10830748	RPTEC	kidney:	n/a
14	chr2:10830716-10830766	HMEC	breast:	n/a
15	chr2:10830716-10830766	BJ	skin:	n/a
16	chr2:10830698-10830748	HCF	heart:	n/a
17	chr2:10830716-10830766	HIPEpiC	eye:	n/a
18	chr2:10830698-10830748	PrEC	prostate:	n/a
19	chr2:10830698-10830748	NHDF-neo	bronchial:	n/a
20	chr2:10830698-10830748	T-47D	breast:	n/a
21	chr2:10830698-10830748	ovcar-3	ovarian:	n/a
22	chr2:10830698-10830748	AG09319	gingival:	n/a
23	chr2:10830716-10830766	GM06990	blood:	n/a
24	chr2:10830698-10830748	HCT-116	colon:	n/a
25	chr2:10830716-10830766	PrEC	prostate:	n/a
26	chr2:10830698-10830748	PFSK-1	brain:	n/a
27	chr2:10830698-10830748	GM12891	blood:	n/a
28	chr2:10830698-10830748	GM12892	blood:	n/a
29	chr2:10830698-10830748	U87	brain:	n/a
30	chr2:10830698-10830748	SAEC	small airway:	n/a
31	chr2:10830716-10830766	NHDF-neo	bronchial:	n/a
32	chr2:10830698-10830748	MCF10A-Er-Src	breast:	n/a
33	chr2:10830716-10830766	HRPEpiC	eye:	n/a
34	chr2:10830716-10830766	ECC-1	luminal epithelium:	n/a
35	chr2:10830698-10830748	AoSMC	blood vessel:	n/a
36	chr2:10830698-10830748	AG04449	skin:	fetal
37	chr2:10830698-10830748	Caco-2	colon:	n/a
38	chr2:10830716-10830766	HepG2	liver:	n/a
39	chr2:10830716-10830766	SAEC	small airway:	n/a
40	chr2:10830698-10830748	HRCEpiC	kidney:	n/a
41	chr2:10830698-10830748	HIPEpiC	eye:	n/a
42	chr2:10830698-10830748	Hepatocyte	liver:	n/a
43	chr2:10830698-10830748	SK-N-SH_RA	brain:	n/a
44	chr2:10830698-10830748	AG09309	skin:	n/a
45	chr2:10830716-10830766	GM12891	blood:	n/a
46	chr2:10830716-10830766	IMR90	lung:	fetal
47	chr2:10830716-10830766	NHBE	bronchial:	n/a
48	chr2:10830716-10830766	PFSK-1	brain:	n/a
49	chr2:10830716-10830766	AG09319	gingival:	n/a
50	chr2:10830698-10830748	PANC-1	pancreas:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10829660..10832488-chr2:10951407..10954824,3	MCF-7	breast:
2	chr2:10262306..10264072-chr2:10830698..10832625,2	K562	blood:
3	chr2:10828658..10831241-chr2:10859513..10862984,4	MCF-7	breast:
4	chr2:10828291..10832221-chr2:11269738..11273006,3	MCF-7	breast:
5	chr2:10829183..10831676-chr2:10953297..10956112,2	MCF-7	breast:
6	chr2:10829824..10831420-chr2:10907947..10910452,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1C2-5	chr2:10830470-10832225	ENSG00000243819.3

No data

Variant related genes	Relation type
RN7SL832P	TF binding region
NOL10	TF binding region
RN7SL832P	CpG island
NOL10	CpG island
ENSG00000171848	Chromatin interaction
ENSG00000272275	Chromatin interaction
ENSG00000143882	Chromatin interaction
ENSG00000143870	Chromatin interaction
ENSG00000145063	Chromatin interaction
ENSG00000238962	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10178212	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10178247	0.80[ASN][1000 genomes]
rs10195255	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs10203785	0.82[YRI][hapmap]
rs11695330	0.91[CEU][hapmap];0.80[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12995602	0.82[YRI][hapmap]
rs1586622	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1586623	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17364547	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1918704	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs2110775	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2357656	0.84[CEU][hapmap];0.89[JPT][hapmap]
rs4233884	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4586606	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4614910	0.90[CEU][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4669605	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4669606	0.90[CEU][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4669607	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55674834	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58445061	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62127228	0.88[EUR][1000 genomes]
rs62127230	0.85[EUR][1000 genomes]
rs6432119	0.81[YRI][hapmap]
rs6715461	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6719701	0.82[YRI][hapmap]
rs72777324	0.86[EUR][1000 genomes]
rs72777328	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72777332	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72777335	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs728283	0.82[YRI][hapmap]
rs7572631	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs7593172	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs759398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs881572	0.90[CEU][hapmap]
rs9287720	0.81[YRI][hapmap]
rs9798203	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10828200-10831200	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:10828600-10830800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:10828800-10831000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:10829000-10830800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr2:10829000-10830800	Active TSS	Left Ventricle	heart
6	chr2:10829000-10831000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:10829200-10830800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:10829200-10830800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:10829200-10830800	Active TSS	Aorta	Aorta
10	chr2:10829200-10830800	Active TSS	Gastric	stomach
11	chr2:10829200-10830800	Active TSS	Ovary	ovary
12	chr2:10829200-10831000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:10829200-10831000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:10829200-10831000	Active TSS	Fetal Intestine Small	intestine
15	chr2:10829200-10831200	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr2:10829200-10831200	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr2:10829200-10831200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:10829200-10831400	Active TSS	GM12878-XiMat	blood
19	chr2:10829400-10830800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr2:10829400-10830800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:10829400-10830800	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr2:10829400-10830800	Active TSS	Muscle Satellite Cultured Cells	--
23	chr2:10829400-10830800	Active TSS	Colon Smooth Muscle	Colon
24	chr2:10829400-10830800	Active TSS	NH-A	brain
25	chr2:10829400-10830800	Active TSS	NHDF-Ad	bronchial
26	chr2:10829400-10831000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr2:10829400-10831000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:10829400-10831000	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:10829400-10831000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:10829400-10831000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr2:10829400-10831000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:10829400-10831000	Active TSS	Fetal Brain Female	brain
33	chr2:10829400-10831000	Active TSS	Fetal Intestine Large	intestine
34	chr2:10829400-10831000	Active TSS	Fetal Stomach	stomach
35	chr2:10829400-10831000	Active TSS	Psoas Muscle	Psoas
36	chr2:10829400-10831000	Active TSS	Right Atrium	heart
37	chr2:10829400-10831000	Active TSS	Right Ventricle	heart
38	chr2:10829400-10831000	Active TSS	Stomach Smooth Muscle	stomach
39	chr2:10829400-10831000	Active TSS	Hela-S3	cervix
40	chr2:10829400-10831000	Active TSS	HMEC	breast
41	chr2:10829400-10831000	Active TSS	HSMM	muscle
42	chr2:10829400-10831000	Active TSS	NHEK	skin
43	chr2:10829400-10831200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:10829400-10831200	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr2:10829400-10831200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:10829400-10831200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:10829400-10831200	Active TSS	A549	lung
48	chr2:10829400-10831200	Active TSS	HSMMtube	muscle
49	chr2:10829400-10831200	Active TSS	NHLF	lung
50	chr2:10829400-10831400	Active TSS	K562	blood

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