Variant report

Variant	rs4999572
Chromosome Location	chr7:100033468-100033469
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:258)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr7:100033156-100034410	K562	blood:	n/a	n/a
2	POLR2A	chr7:100032223-100033760	GM12891	blood:	n/a	n/a
3	POLR2A	chr7:100032140-100034606	GM12892	blood:	n/a	n/a
4	MXI1	chr7:100033262-100033513	Hela-S3	cervix:	n/a	n/a
5	RCOR1	chr7:100033223-100033471	HepG2	liver:	n/a	n/a
6	POU2F2	chr7:100033043-100033614	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:100032543-100034503	HCT-116	colon:	n/a	n/a
8	POLR2A	chr7:100032407-100034492	PBDE	blood:	n/a	n/a
9	MAX	chr7:100033187-100033842	H1-hESC	embryonic stem cell:	n/a	chr7:100033231-100033240
10	E2F6	chr7:100033074-100033873	K562	blood:	n/a	n/a
11	SIN3AK20	chr7:100033145-100034445	K562	blood:	n/a	n/a
12	POLR2A	chr7:100032282-100034553	GM12878	blood:	n/a	n/a
13	TRIM28	chr7:100032891-100033755	K562	blood:	n/a	n/a
14	POLR2A	chr7:100032965-100033799	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr7:100032996-100033797	ECC-1	luminal epithelium:	n/a	n/a
16	ZEB1	chr7:100033108-100034043	GM12878	blood:	n/a	n/a
17	ELF1	chr7:100032897-100034590	MCF-7	breast:	n/a	n/a
18	STAT5A	chr7:100033435-100033668	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:100032929-100034469	A549	lung:	n/a	n/a
20	MYC	chr7:100032948-100034472	K562	blood:	n/a	chr7:100033231-100033240
21	POLR2A	chr7:100032311-100034491	K562	blood:	n/a	n/a
22	POLR2A	chr7:100032169-100034606	GM12891	blood:	n/a	n/a
23	POLR2A	chr7:100032545-100034560	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr7:100032972-100034330	HepG2	liver:	n/a	n/a
25	POLR2A	chr7:100032497-100034528	GM18505	blood:	n/a	n/a
26	BHLHE40	chr7:100033183-100033696	K562	blood:	n/a	n/a
27	POLR2A	chr7:100032219-100034537	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr7:100032217-100034542	HL-60	blood:	n/a	n/a
29	POLR2A	chr7:100032284-100034495	Hela-S3	cervix:	n/a	n/a
30	TCF3	chr7:100033184-100033960	GM12878	blood:	n/a	n/a
31	MYC	chr7:100033409-100033533	HepG2	liver:	n/a	n/a
32	POLR2A	chr7:100030180-100034516	HepG2	liver:	n/a	n/a
33	MAX	chr7:100033283-100033578	GM12878	blood:	n/a	n/a
34	TEAD4	chr7:100032731-100034533	K562	blood:	n/a	n/a
35	HCFC1	chr7:100032210-100034610	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr7:100033425-100033600	GM12878	blood:	n/a	n/a
37	PBX3	chr7:100032965-100033691	A549	lung:	n/a	n/a
38	GABPA	chr7:100033193-100033565	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr7:100032982-100034552	GM19099	blood:	n/a	n/a
40	YY1	chr7:100033259-100034490	HepG2	liver:	n/a	n/a
41	CCNT2	chr7:100033222-100034376	K562	blood:	n/a	n/a
42	ETS1	chr7:100033100-100034302	K562	blood:	n/a	n/a
43	PML	chr7:100032441-100033720	K562	blood:	n/a	n/a
44	EGR1	chr7:100033232-100034464	K562	blood:	n/a	chr7:100034069-100034083 chr7:100033746-100033760
45	STAT5A	chr7:100032902-100033565	K562	blood:	n/a	n/a
46	MYC	chr7:100033094-100034460	NB4	blood:	n/a	chr7:100033231-100033240
47	GATA3	chr7:100033323-100033678	MCF-7	breast:	n/a	n/a
48	EP300	chr7:100032895-100033628	A549	lung:	n/a	n/a
49	MAX	chr7:100032907-100034507	HepG2	liver:	n/a	chr7:100033231-100033240
50	MYC	chr7:100033267-100033635	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100032492..100035080-chr7:100065519..100068625,3	MCF-7	breast:
2	chr7:100033058..100034813-chr7:100449764..100451334,2	K562	blood:
3	chr7:100033010..100033644-chr8:95961386..95962064,2	HCT-116	colon:
4	chr7:100033372..100035718-chr7:100301969..100303920,2	MCF-7	breast:
5	chr12:125398432..125399077-chr7:100033217..100034107,2	Hela-S3	cervix:
6	chr7:26904022..26904979-chr7:100032946..100033867,2	Hela-S3	cervix:
7	chr14:102553371..102553886-chr7:100033230..100033900,2	Hela-S3	cervix:
8	chr7:99998986..100001461-chr7:100032501..100034124,2	K562	blood:
9	chr1:32410203..32410718-chr7:100033319..100034309,2	Hela-S3	cervix:
10	chr7:100025583..100035841-chr7:100071553..100080023,19	MCF-7	breast:
11	chr5:43121507..43122088-chr7:100033112..100033632,2	Hela-S3	cervix:
12	chr7:99677604..99679757-chr7:100032184..100034035,2	K562	blood:
13	chr7:99997930..100000096-chr7:100032489..100035082,2	MCF-7	breast:
14	chr7:100031790..100034595-chr7:100181557..100184454,2	MCF-7	breast:
15	chr7:100031924..100034212-chr7:100179842..100183716,3	MCF-7	breast:
16	chr7:100032100..100034084-chr7:100269925..100271746,2	MCF-7	breast:
17	chr7:100033419..100035678-chr7:100463885..100466048,2	MCF-7	breast:
18	chr17:74667908..74668521-chr7:100033397..100034132,2	Hela-S3	cervix:
19	chr7:99715913..99718707-chr7:100032846..100035303,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MEPCE-1	chr7:100033255-100033693	NONHSAT122375

No data

Variant related genes	Relation type
ENSG00000240211	TF binding region
ENSG00000166925	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000166526	Chromatin interaction
ENSG00000087077	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000080824	Chromatin interaction
ENSG00000184007	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000005020	Chromatin interaction
ENSG00000106290	Chromatin interaction
ENSG00000166997	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000261335	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11559121	1.00[CHD][hapmap]
rs12673102	1.00[LWK][hapmap]
rs13237608	1.00[LWK][hapmap]
rs28446670	1.00[LWK][hapmap]
rs34437892	1.00[LWK][hapmap]
rs35379858	1.00[CHD][hapmap]
rs4352765	1.00[LWK][hapmap]
rs7801492	1.00[LWK][hapmap]

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	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv527107	chr7:100014711-100064719	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	269 gene(s)	inside rSNPs	diseases
5	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
6	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
7	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
8	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
9	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100027400-100033600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:100028600-100033600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:100032200-100033600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:100032200-100034600	Active TSS	Psoas Muscle	Psoas
5	chr7:100032400-100033600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr7:100032400-100034200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:100032400-100034600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:100032600-100033600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr7:100032600-100033600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:100032600-100034200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:100032600-100034600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:100032600-100035000	Enhancers	Fetal Brain Male	brain
13	chr7:100032800-100033600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr7:100032800-100033600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:100032800-100033600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:100032800-100033600	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr7:100032800-100033600	Flanking Active TSS	Colonic Mucosa	Colon
18	chr7:100032800-100034000	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr7:100032800-100034200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:100032800-100034200	Active TSS	Lung	lung
21	chr7:100032800-100034400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:100032800-100034600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:100032800-100034600	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr7:100032800-100034600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr7:100032800-100034600	Active TSS	NHDF-Ad	bronchial
26	chr7:100033000-100033600	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr7:100033000-100033600	Flanking Active TSS	Placenta	Placenta
28	chr7:100033000-100033600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr7:100033000-100034200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:100033000-100034200	Active TSS	HepG2	liver
31	chr7:100033000-100034400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:100033000-100034400	Transcr. at gene 5' and 3'	Right Atrium	heart
33	chr7:100033000-100034600	Active TSS	H1 Cell Line	embryonic stem cell
34	chr7:100033000-100034600	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr7:100033000-100034600	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr7:100033000-100034600	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr7:100033000-100034600	Active TSS	Primary T cells from cord blood	blood
38	chr7:100033000-100034600	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr7:100033000-100034600	Active TSS	Left Ventricle	heart
40	chr7:100033000-100034600	Active TSS	Ovary	ovary
41	chr7:100033000-100034600	Active TSS	Small Intestine	intestine
42	chr7:100033000-100034600	Active TSS	Hela-S3	cervix
43	chr7:100033000-100034800	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr7:100033000-100034800	Active TSS	GM12878-XiMat	blood
45	chr7:100033200-100033600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr7:100033200-100033600	Active TSS	Fetal Heart	heart
47	chr7:100033200-100034200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:100033200-100034200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:100033200-100034200	Active TSS	Aorta	Aorta
50	chr7:100033200-100034200	Active TSS	Spleen	Spleen

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