Variant report

Variant	rs528487034
Chromosome Location	chr3:56717073-56717074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:56716253-56717541	GM10847	blood:	n/a	n/a
2	POLR2A	chr3:56716248-56717684	MCF-7	breast:	n/a	n/a
3	CHD2	chr3:56716259-56717657	GM12878	blood:	n/a	n/a
4	HEY1	chr3:56716350-56717332	HepG2	liver:	n/a	chr3:56716547-56716562 chr3:56716501-56716516 chr3:56717313-56717328
5	POLR2A	chr3:56717051-56717409	ECC-1	luminal epithelium:	n/a	n/a
6	PBX3	chr3:56716349-56717649	SK-N-SH	brain:	n/a	n/a
7	MAZ	chr3:56716161-56717571	HepG2	liver:	n/a	chr3:56716408-56716418 chr3:56717305-56717315
8	POLR2A	chr3:56716232-56717582	HL-60	blood:	n/a	n/a
9	MAX	chr3:56716035-56717842	HepG2	liver:	n/a	chr3:56716408-56716418 chr3:56717305-56717315
10	TBP	chr3:56716263-56717591	K562	blood:	n/a	n/a
11	POLR2A	chr3:56715932-56717549	U87	brain:	n/a	n/a
12	POU2F2	chr3:56716348-56717567	GM12891	blood:	n/a	chr3:56716636-56716658 chr3:56717304-56717316
13	POLR2A	chr3:56716755-56717356	H1-hESC	embryonic stem cell:	n/a	n/a
14	SMC3	chr3:56716249-56717462	Hela-S3	cervix:	n/a	chr3:56717300-56717314
15	POLR2A	chr3:56716161-56717724	GM19099	blood:	n/a	n/a
16	CREB1	chr3:56716760-56717501	H1-hESC	embryonic stem cell:	n/a	n/a
17	TAL1	chr3:56716383-56717821	K562	blood:	n/a	n/a
18	MXI1	chr3:56716155-56717683	GM12878	blood:	n/a	n/a
19	TAF1	chr3:56716789-56717521	MCF-7	breast:	n/a	n/a
20	MAX	chr3:56716250-56717788	H1-hESC	embryonic stem cell:	n/a	chr3:56716408-56716418 chr3:56717305-56717315
21	PML	chr3:56716990-56717386	K562	blood:	n/a	n/a
22	CBX3	chr3:56716207-56717929	HCT-116	colon:	n/a	n/a
23	RCOR1	chr3:56716367-56717805	GM12878	blood:	n/a	n/a
24	POLR2A	chr3:56716223-56717594	HepG2	liver:	n/a	n/a
25	MAZ	chr3:56716250-56717657	K562	blood:	n/a	chr3:56716408-56716418 chr3:56717305-56717315
26	GATA1	chr3:56716189-56718152	PBDE	blood:	n/a	chr3:56717810-56717821
27	MAX	chr3:56716100-56717821	SK-N-SH	brain:	n/a	chr3:56716408-56716418 chr3:56717305-56717315
28	JUND	chr3:56716327-56717607	K562	blood:	n/a	chr3:56717334-56717343
29	MAX	chr3:56716356-56717722	HUVEC	blood vessel:	n/a	chr3:56716408-56716418 chr3:56717305-56717315
30	MYC	chr3:56716246-56717640	K562	blood:	n/a	chr3:56716408-56716418 chr3:56717305-56717315
31	POLR2A	chr3:56716220-56717670	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr3:56715800-56717661	GM12892	blood:	n/a	n/a
33	TAF1	chr3:56716312-56717074	GM12891	blood:	n/a	n/a
34	POLR2A	chr3:56716156-56717731	Raji	blood:	n/a	n/a
35	CBX3	chr3:56717044-56718024	K562	blood:	n/a	chr3:56717939-56717950
36	CHD2	chr3:56716466-56717652	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr3:56716216-56717556	HCT-116	colon:	n/a	n/a
38	POLR2A	chr3:56716948-56717673	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr3:56716303-56717610	A549	lung:	n/a	n/a
40	POLR2A	chr3:56716057-56717627	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr3:56712599-56717443	K562	blood:	n/a	n/a
42	FOXM1	chr3:56716404-56717111	GM12878	blood:	n/a	n/a
43	HMGN3	chr3:56716391-56717642	K562	blood:	n/a	n/a
44	TAF1	chr3:56716666-56717298	GM12892	blood:	n/a	n/a
45	HEY1	chr3:56716786-56717557	K562	blood:	n/a	chr3:56717313-56717328 chr3:56717344-56717359
46	ELF1	chr3:56716705-56717144	K562	blood:	n/a	chr3:56716933-56716946
47	YY1	chr3:56716286-56717648	K562	blood:	n/a	chr3:56717304-56717318 chr3:56716655-56716665 chr3:56717307-56717316 chr3:56717098-56717107 chr3:56716908-56716920 chr3:56716581-56716595
48	E2F6	chr3:56716268-56718072	A549	lung:	n/a	chr3:56717409-56717419 chr3:56717410-56717418 chr3:56717098-56717107 chr3:56717408-56717419 chr3:56717562-56717571 chr3:56717410-56717418 chr3:56717307-56717316 chr3:56717411-56717418 chr3:56717410-56717418
49	POLR2A	chr3:56716182-56717592	GM12878	blood:	n/a	n/a
50	MYC	chr3:56716186-56717532	MCF10A-Er-Src	breast:	n/a	chr3:56716408-56716418 chr3:56717305-56717315

No.	Distal block	Cell Line	Cell type
1	chr3:56705021..56708606-chr3:56714722..56718211,5	MCF-7	breast:
2	chr14:64854828..64855596-chr3:56716887..56717549,2	HCT-116	colon:
3	chr3:56715125..56717534-chr4:38104477..38107344,2	MCF-7	breast:
4	chr3:56589231..56591997-chr3:56715959..56718849,3	K562	blood:
5	chr3:56702147..56705420-chr3:56716741..56719178,3	MCF-7	breast:
6	chr3:56666598..56668908-chr3:56715764..56717337,2	MCF-7	breast:
7	chr3:56716781..56717328-chr5:180673479..180674070,2	Hela-S3	cervix:
8	chr3:56589586..56592975-chr3:56714350..56719200,6	K562	blood:
9	chr3:56716275..56717973-chr3:56833928..56836671,2	K562	blood:
10	chr3:56715514..56718317-chr3:56833414..56836251,4	MCF-7	breast:
11	chr3:56716520..56717389-chr6:26157669..26158536,2	Hela-S3	cervix:
12	chr10:126106969..126107773-chr3:56716259..56717211,2	Hela-S3	cervix:
13	chr3:56716645..56717530-chr8:101734318..101735231,2	Hela-S3	cervix:

Variant related genes	Relation type
FAM208A	TF binding region
ENSG00000065154	Chromatin interaction
ENSG00000163947	Chromatin interaction
ENSG00000233937	Chromatin interaction
ENSG00000163946	Chromatin interaction
ENSG00000180376	Chromatin interaction
ENSG00000065882	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000070756	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	esv3327056	chr3:56715937-56718485	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56713600-56717600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:56713800-56717400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr3:56713800-56717400	Active TSS	GM12878-XiMat	blood
4	chr3:56713800-56717400	Active TSS	K562	blood
5	chr3:56714600-56717400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr3:56714600-56717400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:56714800-56717400	Active TSS	HMEC	breast
8	chr3:56714800-56717600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:56715000-56717400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr3:56715200-56717400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr3:56715200-56717600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:56715200-56717800	Active TSS	Thymus	Thymus
13	chr3:56715400-56717400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr3:56715400-56717400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:56715400-56717400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:56715400-56717400	Active TSS	A549	lung
17	chr3:56715400-56717600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:56715400-56717600	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr3:56715400-56717600	Active TSS	NHLF	lung
20	chr3:56715600-56718000	Active TSS	Brain Angular Gyrus	brain
21	chr3:56715600-56718000	Active TSS	HSMMtube	muscle
22	chr3:56715800-56717200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:56715800-56717400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr3:56715800-56717400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr3:56715800-56717400	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr3:56715800-56717400	Active TSS	Primary T cells fromperipheralblood	blood
27	chr3:56715800-56717400	Active TSS	Fetal Thymus	thymus
28	chr3:56715800-56717400	Active TSS	Stomach Smooth Muscle	stomach
29	chr3:56715800-56717400	Active TSS	HepG2	liver
30	chr3:56715800-56717400	Active TSS	HSMM	muscle
31	chr3:56715800-56717600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:56715800-56717600	Active TSS	Hela-S3	cervix
33	chr3:56715800-56717800	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr3:56715800-56717800	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr3:56715800-56718000	Active TSS	Brain Hippocampus Middle	brain
36	chr3:56715800-56718000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:56716000-56717200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr3:56716000-56717400	Active TSS	H9 Cell Line	embryonic stem cell
39	chr3:56716000-56717400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:56716000-56717400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:56716000-56717400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:56716000-56717400	Active TSS	Aorta	Aorta
43	chr3:56716000-56717400	Active TSS	Brain Cingulate Gyrus	brain
44	chr3:56716000-56717400	Active TSS	Brain Germinal Matrix	brain
45	chr3:56716000-56717400	Active TSS	Colon Smooth Muscle	Colon
46	chr3:56716000-56717400	Active TSS	Fetal Intestine Large	intestine
47	chr3:56716000-56717400	Active TSS	Fetal Intestine Small	intestine
48	chr3:56716000-56717400	Active TSS	Fetal Muscle Trunk	muscle
49	chr3:56716000-56717400	Active TSS	Fetal Muscle Leg	muscle
50	chr3:56716000-56717400	Active TSS	Placenta	Placenta

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