Variant report

Variant	rs12722806
Chromosome Location	chr1:155863697-155863698
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	TBP	chr1:155863290-155863766	Hela-S3	cervix:	n/a	n/a
2	NFIC	chr1:155862449-155863830	SK-N-SH	brain:	n/a	n/a
3	MAX	chr1:155863297-155863805	Hela-S3	cervix:	n/a	chr1:155863618-155863633
4	CEBPB	chr1:155863479-155863989	A549	lung:	n/a	chr1:155863805-155863816
5	MAFK	chr1:155863474-155863802	HepG2	liver:	n/a	n/a
6	USF1	chr1:155863404-155863784	A549	lung:	n/a	chr1:155863618-155863629
7	MAFF	chr1:155863505-155863771	HepG2	liver:	n/a	n/a
8	TEAD4	chr1:155863367-155863890	HepG2	liver:	n/a	chr1:155863632-155863641
9	MXI1	chr1:155862657-155863757	Hela-S3	cervix:	n/a	n/a
10	STAT3	chr1:155863386-155863713	MCF10A-Er-Src	breast:	n/a	n/a
11	USF1	chr1:155863376-155863790	A549	lung:	n/a	chr1:155863618-155863629
12	CEBPB	chr1:155863630-155863985	K562	blood:	n/a	chr1:155863805-155863816
13	BHLHE40	chr1:155863511-155863764	K562	blood:	n/a	n/a
14	FOS	chr1:155863394-155863800	MCF10A-Er-Src	breast:	n/a	n/a
15	CHD2	chr1:155863368-155863747	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr1:155862407-155863902	U87	brain:	n/a	n/a
17	FOSL2	chr1:155863205-155863786	A549	lung:	n/a	n/a
18	POLR2A	chr1:155862565-155863774	Hela-S3	cervix:	n/a	n/a
19	MAX	chr1:155863404-155863744	Hela-S3	cervix:	n/a	chr1:155863618-155863633
20	MAX	chr1:155863459-155863771	HepG2	liver:	n/a	chr1:155863618-155863633
21	USF1	chr1:155863378-155863803	A549	lung:	n/a	chr1:155863618-155863629
22	USF1	chr1:155863391-155863727	SK-N-SH_RA	brain:	n/a	chr1:155863618-155863629
23	JUN	chr1:155863366-155863795	HUVEC	blood vessel:	n/a	n/a
24	FOS	chr1:155863296-155863766	HUVEC	blood vessel:	n/a	n/a
25	USF1	chr1:155863504-155863728	HepG2	liver:	n/a	chr1:155863618-155863629
26	MAFK	chr1:155862570-155863801	Hela-S3	cervix:	n/a	chr1:155862707-155862722
27	JUND	chr1:155863506-155863743	K562	blood:	n/a	n/a
28	FOXA1	chr1:155863394-155863905	HepG2	liver:	n/a	chr1:155863680-155863692
29	MAX	chr1:155863439-155863778	NB4	blood:	n/a	chr1:155863618-155863633
30	JUND	chr1:155863405-155863723	HepG2	liver:	n/a	n/a
31	FOXA1	chr1:155863490-155863884	HepG2	liver:	n/a	chr1:155863680-155863692
32	FOSL1	chr1:155862303-155863876	HCT-116	colon:	n/a	n/a
33	POLR2A	chr1:155863697-155863808	GM12878	blood:	n/a	n/a
34	RFX5	chr1:155863233-155863830	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr1:155863473-155864085	A549	lung:	n/a	chr1:155863805-155863816
36	USF1	chr1:155863317-155863719	K562	blood:	n/a	chr1:155863618-155863629
37	STAT3	chr1:155863375-155863806	Hela-S3	cervix:	n/a	n/a
38	JUND	chr1:155862452-155863856	HCT-116	colon:	n/a	n/a
39	FOS	chr1:155863386-155863764	MCF10A-Er-Src	breast:	n/a	n/a
40	USF1	chr1:155863428-155863843	A549	lung:	n/a	chr1:155863618-155863629
41	JUN	chr1:155862553-155863825	Hela-S3	cervix:	n/a	n/a
42	JUND	chr1:155863207-155863847	SK-N-SH	brain:	n/a	n/a
43	CEBPB	chr1:155863540-155864016	A549	lung:	n/a	chr1:155863805-155863816
44	EP300	chr1:155863195-155863826	Hela-S3	cervix:	n/a	chr1:155863560-155863567 chr1:155863679-155863689
45	E2F4	chr1:155863424-155863697	MCF10A-Er-Src	breast:	n/a	n/a
46	RAD21	chr1:155863458-155863816	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr1:155863522-155863998	HepG2	liver:	n/a	chr1:155863805-155863816
48	RCOR1	chr1:155863531-155863827	HepG2	liver:	n/a	n/a
49	GTF3C2	chr1:155863345-155863885	Hela-S3	cervix:	n/a	n/a
50	JUND	chr1:155862364-155863901	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155862181..155863978-chr1:155864920..155867045,2	K562	blood:
2	chr1:155863017..155863761-chr16:3017716..3018529,2	Hela-S3	cervix:
3	chr1:155828536..155830676-chr1:155863027..155864768,2	MCF-7	breast:
4	chr1:155863125..155864925-chr21:44312022..44313630,2	MCF-7	breast:

Variant related genes	Relation type
RNU4-19P	TF binding region
ENSG00000116580	Chromatin interaction
ENSG00000132718	Chromatin interaction
ENSG00000160194	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10752614	0.87[ASW][hapmap]
rs1889531	1.00[ASW][hapmap];0.82[LWK][hapmap];0.83[MKK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs348200	0.86[ASW][hapmap]
rs4661150	1.00[AMR][1000 genomes]
rs822517	0.86[ASW][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822518	0.86[ASW][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs864770	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 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	chr1:155830000-155869000	Weak transcription	Gastric	stomach
2	chr1:155830400-155865800	Weak transcription	Esophagus	oesophagus
3	chr1:155830600-155866800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:155836400-155866400	Weak transcription	Primary B cells from cord blood	blood
5	chr1:155841800-155869200	Weak transcription	Right Ventricle	heart
6	chr1:155844400-155874000	Weak transcription	Fetal Brain Male	brain
7	chr1:155847600-155866400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:155850600-155873600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:155851400-155866000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:155851400-155866000	Weak transcription	Spleen	Spleen
11	chr1:155851400-155866400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:155851400-155867400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:155851600-155866800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:155851600-155870200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:155854200-155868600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:155854400-155866200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:155854400-155866400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:155854400-155873600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:155854800-155868800	Weak transcription	Ovary	ovary
20	chr1:155858600-155864000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:155859000-155864200	Strong transcription	Brain Germinal Matrix	brain
22	chr1:155860000-155864800	Weak transcription	Fetal Stomach	stomach
23	chr1:155860200-155865000	Weak transcription	Fetal Brain Female	brain
24	chr1:155861200-155864200	Enhancers	HepG2	liver
25	chr1:155861400-155866000	Weak transcription	Pancreas	Pancrea
26	chr1:155861600-155866600	Weak transcription	GM12878-XiMat	blood
27	chr1:155861800-155866000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:155862000-155863800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:155862200-155863800	Enhancers	Brain Substantia Nigra	brain
30	chr1:155862200-155864000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:155862200-155864000	Enhancers	Lung	lung
32	chr1:155862200-155864000	Enhancers	NHLF	lung
33	chr1:155862200-155864200	Enhancers	Brain Anterior Caudate	brain
34	chr1:155862200-155864200	Enhancers	HMEC	breast
35	chr1:155862200-155864800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:155862400-155863800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:155862400-155863800	Enhancers	Fetal Intestine Small	intestine
38	chr1:155862400-155864000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:155862400-155864000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:155862400-155864000	Enhancers	Brain Cingulate Gyrus	brain
41	chr1:155862400-155864200	Enhancers	Fetal Muscle Leg	muscle
42	chr1:155862400-155864200	Enhancers	Placenta	Placenta
43	chr1:155862400-155864200	Flanking Active TSS	A549	lung
44	chr1:155862400-155864200	Flanking Active TSS	Hela-S3	cervix
45	chr1:155862400-155864200	Enhancers	HSMMtube	muscle
46	chr1:155862600-155864000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:155862600-155864000	Enhancers	Primary T cells from cord blood	blood
48	chr1:155862600-155864000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr1:155862600-155864000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr1:155862600-155864000	Enhancers	Fetal Intestine Large	intestine

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