Variant report

Variant	rs7520067
Chromosome Location	chr1:213189294-213189295
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:381)
CpG islands
(count:122)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:213188993-213189323	H1-hESC	embryonic stem cell:	n/a	n/a
2	RUNX3	chr1:213188377-213189322	GM12878	blood:	n/a	n/a
3	ELF1	chr1:213188605-213189369	MCF-7	breast:	n/a	n/a
4	PML	chr1:213188648-213189362	GM12878	blood:	n/a	n/a
5	ZC3H11A	chr1:213189007-213189306	K562	blood:	n/a	n/a
6	POLR2A	chr1:213188445-213189298	ECC-1	luminal epithelium:	n/a	n/a
7	TEAD4	chr1:213188482-213189403	ECC-1	luminal epithelium:	n/a	n/a
8	USF1	chr1:213188897-213189305	A549	lung:	n/a	n/a
9	SIN3A	chr1:213187995-213189327	H1-hESC	embryonic stem cell:	n/a	n/a
10	STAT1	chr1:213188599-213189366	GM12878	blood:	n/a	chr1:213189321-213189332
11	BHLHE40	chr1:213188421-213189357	GM12878	blood:	n/a	n/a
12	ETS1	chr1:213188828-213189369	A549	lung:	n/a	chr1:213189150-213189163
13	POLR2A	chr1:213188527-213189344	HepG2	liver:	n/a	n/a
14	NRF1	chr1:213189015-213189443	H1-hESC	embryonic stem cell:	n/a	chr1:213189234-213189248 chr1:213189234-213189245 chr1:213189234-213189245
15	POLR2A	chr1:213188519-213189319	HUVEC	blood vessel:	n/a	n/a
16	TBP	chr1:213188494-213189349	HepG2	liver:	n/a	n/a
17	STAT5A	chr1:213188464-213189463	GM12878	blood:	n/a	chr1:213189321-213189332
18	SIX5	chr1:213189003-213189371	K562	blood:	n/a	n/a
19	E2F6	chr1:213188238-213189371	H1-hESC	embryonic stem cell:	n/a	chr1:213189040-213189050
20	MAX	chr1:213188044-213189356	K562	blood:	n/a	chr1:213188520-213188536
21	REST	chr1:213188147-213189421	H1-neurons	neurons:	n/a	n/a
22	MAX	chr1:213188434-213189330	HepG2	liver:	n/a	chr1:213188520-213188536
23	MYC	chr1:213188036-213189439	K562	blood:	n/a	chr1:213188520-213188536
24	POLR2A	chr1:213188399-213189336	GM12892	blood:	n/a	n/a
25	POLR2A	chr1:213188469-213189299	A549	lung:	n/a	n/a
26	TBL1XR1	chr1:213188955-213189322	K562	blood:	n/a	n/a
27	POLR2A	chr1:213187368-213189944	K562	blood:	n/a	n/a
28	EGR1	chr1:213188771-213189379	K562	blood:	n/a	chr1:213189138-213189162 chr1:213189235-213189244
29	ZNF143	chr1:213188529-213189374	H1-hESC	embryonic stem cell:	n/a	chr1:213189139-213189154 chr1:213189143-213189161 chr1:213189138-213189157
30	YY1	chr1:213188473-213189515	HepG2	liver:	n/a	chr1:213189263-213189285
31	MAX	chr1:213188005-213189422	NB4	blood:	n/a	chr1:213188520-213188536
32	POLR2A	chr1:213187556-213189480	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr1:213188479-213189355	HepG2	liver:	n/a	n/a
34	POLR2A	chr1:213188427-213189385	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF2	chr1:213188533-213189349	GM12878	blood:	n/a	n/a
36	POLR2A	chr1:213187892-213189383	K562	blood:	n/a	n/a
37	GABPA	chr1:213188578-213189394	A549	lung:	n/a	chr1:213189234-213189248 chr1:213189234-213189245
38	ELF1	chr1:213188430-213189399	GM12878	blood:	n/a	n/a
39	CBX3	chr1:213187974-213189385	K562	blood:	n/a	n/a
40	ZKSCAN1	chr1:213188937-213189294	Hela-S3	cervix:	n/a	n/a
41	NFIC	chr1:213189008-213189345	HepG2	liver:	n/a	n/a
42	REST	chr1:213188957-213189320	HepG2	liver:	n/a	n/a
43	FOXM1	chr1:213188873-213189335	GM12878	blood:	n/a	chr1:213189179-213189187
44	MAX	chr1:213188305-213189373	SK-N-SH	brain:	n/a	chr1:213188520-213188536
45	MAX	chr1:213187984-213189389	K562	blood:	n/a	chr1:213188520-213188536
46	CEBPB	chr1:213187994-213189416	Hela-S3	cervix:	n/a	n/a
47	RFX5	chr1:213188126-213189425	Hela-S3	cervix:	n/a	n/a
48	PML	chr1:213188299-213189441	GM12878	blood:	n/a	n/a
49	MYC	chr1:213188220-213189327	Hela-S3	cervix:	n/a	chr1:213188520-213188536
50	PAX5	chr1:213188909-213189415	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:213189260-213189310	SKMC	muscle:	n/a
2	chr1:213189256-213189306	AG09309	skin:	n/a
3	chr1:213189256-213189306	HMEC	breast:	n/a
4	chr1:213189256-213189306	HL-60	blood:	n/a
5	chr1:213189260-213189310	H1-hESC	embryonic stem cell:	embryo
6	chr1:213189256-213189306	PFSK-1	brain:	n/a
7	chr1:213189256-213189306	ECC-1	luminal epithelium:	n/a
8	chr1:213189256-213189306	AG09319	gingival:	n/a
9	chr1:213189260-213189310	HCM	heart:	n/a
10	chr1:213189260-213189310	Hepatocyte	liver:	n/a
11	chr1:213189256-213189306	AG04449	skin:	fetal
12	chr1:213189260-213189310	HRCEpiC	kidney:	n/a
13	chr1:213189256-213189306	T-47D	breast:	n/a
14	chr1:213189256-213189306	PANC-1	pancreas:	n/a
15	chr1:213189256-213189306	BE2_C	brain:	n/a
16	chr1:213189260-213189310	PrEC	prostate:	n/a
17	chr1:213189256-213189306	HRCEpiC	kidney:	n/a
18	chr1:213189260-213189310	GM06990	blood:	n/a
19	chr1:213189260-213189310	CMK	blood:	n/a
20	chr1:213189260-213189310	BE2_C	brain:	n/a
21	chr1:213189260-213189310	AG09319	gingival:	n/a
22	chr1:213189256-213189306	SK-N-MC	brain:	n/a
23	chr1:213189256-213189306	SK-N-SH	brain:	n/a
24	chr1:213189256-213189306	PrEC	prostate:	n/a
25	chr1:213189256-213189306	HRPEpiC	eye:	n/a
26	chr1:213189256-213189306	HCF	heart:	n/a
27	chr1:213189260-213189310	HepG2	liver:	n/a
28	chr1:213189256-213189306	GM19239	blood:	n/a
29	chr1:213189260-213189310	HEK293	kidney:	embryo
30	chr1:213189260-213189310	HAEpiC	amniotic membrane:	n/a
31	chr1:213189256-213189306	AG04450	lung:	fetal
32	chr1:213189260-213189310	GM12892	blood:	n/a
33	chr1:213189260-213189310	HUVEC	blood vessel:	n/a
34	chr1:213189260-213189310	RPTEC	kidney:	n/a
35	chr1:213189260-213189310	T-47D	breast:	n/a
36	chr1:213189260-213189310	Jurkat	blood:	n/a
37	chr1:213189256-213189306	HCPEpiC	choroid plexus:	n/a
38	chr1:213189256-213189306	AG10803	skin:	n/a
39	chr1:213189256-213189306	NHBE	bronchial:	n/a
40	chr1:213189260-213189310	MCF-7	breast:	n/a
41	chr1:213189256-213189306	CMK	blood:	n/a
42	chr1:213189256-213189306	A549	lung:	n/a
43	chr1:213189256-213189306	LNCaP	prostate:	n/a
44	chr1:213189260-213189310	HEEpiC	esophagus:	n/a
45	chr1:213189260-213189310	ECC-1	luminal epithelium:	n/a
46	chr1:213189260-213189310	PANC-1	pancreas:	n/a
47	chr1:213189260-213189310	Caco-2	colon:	n/a
48	chr1:213189256-213189306	HRE	kidney:	n/a
49	chr1:213189260-213189310	U87	brain:	n/a
50	chr1:213189256-213189306	K562	blood:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:213187916..213189691-chr1:213222882..213226054,4	K562	blood:
2	chr1:93297134..93298053-chr1:213188509..213189760,3	NB4	blood:
3	chr1:213189173..213189726-chr9:140094869..140095605,2	HCT-116	colon:
4	chr1:213187916..213191474-chr1:213223097..213226356,5	K562	blood:
5	chr1:213172351..213174511-chr1:213188133..213190817,2	K562	blood:
6	chr1:212780951..212783989-chr1:213187661..213190726,3	K562	blood:
7	chr1:213188825..213190728-chr1:213222994..213225299,2	MCF-7	breast:
8	chr1:213030101..213032938-chr1:213186047..213190102,3	K562	blood:
9	chr1:213189175..213191478-chr1:213248143..213250768,2	K562	blood:
10	chr1:213189175..213191478-chr1:213247588..213250768,3	K562	blood:

No data

Variant related genes	Relation type
ANGEL2	TF binding region
ANGEL2	CpG island
ENSG00000122406	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000162769	Chromatin interaction
ENSG00000176058	Chromatin interaction
ENSG00000198468	Chromatin interaction
ENSG00000136643	Chromatin interaction
ENSG00000174606	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10157273	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11120082	0.85[YRI][hapmap]
rs11810428	1.00[EUR][1000 genomes]
rs41277158	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6540771	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6540772	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs6540775	1.00[CEU][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes]
rs6688043	0.80[EUR][1000 genomes]
rs6692011	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6694156	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6697921	0.85[YRI][hapmap]
rs7516436	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7525940	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213186800-213189800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:213187000-213189600	Active TSS	GM12878-XiMat	blood
3	chr1:213187200-213189800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:213187200-213189800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:213187400-213189400	Active TSS	Colon Smooth Muscle	Colon
6	chr1:213187400-213189400	Active TSS	NHDF-Ad	bronchial
7	chr1:213187400-213189600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:213187400-213189800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:213187600-213189600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:213187600-213189600	Active TSS	A549	lung
11	chr1:213187600-213189800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:213187600-213190400	Active TSS	K562	blood
13	chr1:213187800-213189400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr1:213187800-213189400	Active TSS	Right Atrium	heart
15	chr1:213187800-213189600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr1:213187800-213189600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr1:213187800-213189800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:213187800-213189800	Active TSS	HSMMtube	muscle
19	chr1:213188000-213189400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:213188000-213189400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:213188000-213189400	Active TSS	Aorta	Aorta
22	chr1:213188000-213189400	Active TSS	Fetal Muscle Trunk	muscle
23	chr1:213188000-213189600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:213188000-213189600	Active TSS	Fetal Kidney	kidney
25	chr1:213188000-213189600	Active TSS	Ovary	ovary
26	chr1:213188000-213189800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:213188000-213189800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:213188000-213189800	Active TSS	HSMM	muscle
29	chr1:213188200-213189400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:213188200-213189400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:213188200-213189400	Active TSS	Fetal Lung	lung
32	chr1:213188200-213189400	Active TSS	Right Ventricle	heart
33	chr1:213188200-213189400	Active TSS	NH-A	brain
34	chr1:213188200-213189600	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr1:213188200-213189600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:213188200-213189600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:213188200-213189600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:213188200-213189600	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr1:213188200-213189600	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr1:213188200-213189600	Active TSS	Muscle Satellite Cultured Cells	--
41	chr1:213188200-213189600	Active TSS	Liver	Liver
42	chr1:213188200-213189600	Active TSS	Brain Angular Gyrus	brain
43	chr1:213188200-213189600	Active TSS	Brain Cingulate Gyrus	brain
44	chr1:213188200-213189600	Active TSS	Duodenum Mucosa	Duodenum
45	chr1:213188200-213189600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr1:213188200-213189600	Active TSS	Fetal Intestine Small	intestine
47	chr1:213188200-213189600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr1:213188200-213189600	Active TSS	Fetal Muscle Leg	muscle
49	chr1:213188200-213189600	Active TSS	Fetal Stomach	stomach
50	chr1:213188200-213189600	Active TSS	Left Ventricle	heart

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