Variant report

Variant	rs6704452
Chromosome Location	chr1:84972817-84972818
allele	C/T
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	EP300	chr1:84972027-84972929	GM12878	blood:	n/a	n/a
2	MAZ	chr1:84971137-84972836	IMR90	lung:	n/a	n/a
3	CHD1	chr1:84972566-84972899	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBP	chr1:84971283-84972881	K562	blood:	n/a	n/a
5	JUN	chr1:84970079-84973077	K562	blood:	n/a	chr1:84970176-84970185 chr1:84972305-84972317 chr1:84972307-84972316
6	NRF1	chr1:84971064-84972823	SK-N-SH	brain:	n/a	chr1:84971351-84971360 chr1:84971927-84971936 chr1:84971925-84971936 chr1:84971924-84971935 chr1:84971925-84971939 chr1:84971922-84971936 chr1:84971925-84971934
7	CUX1	chr1:84971961-84973147	K562	blood:	n/a	n/a
8	BCLAF1	chr1:84972010-84972831	K562	blood:	n/a	chr1:84972323-84972332
9	MXI1	chr1:84970410-84973047	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:84970990-84972853	K562	blood:	n/a	n/a
11	POLR2A	chr1:84970863-84972828	GM18526	blood:	n/a	n/a
12	POLR2A	chr1:84970407-84973119	GM19099	blood:	n/a	n/a
13	POLR2A	chr1:84970931-84972928	K562	blood:	n/a	n/a
14	ELK1	chr1:84971703-84972827	K562	blood:	n/a	n/a
15	CHD2	chr1:84970985-84972836	GM12878	blood:	n/a	n/a
16	PML	chr1:84970167-84973030	GM12878	blood:	n/a	n/a
17	SMC3	chr1:84970269-84972875	Hela-S3	cervix:	n/a	chr1:84972211-84972219
18	ZNF384	chr1:84972167-84973126	K562	blood:	n/a	n/a
19	CEBPD	chr1:84971190-84972819	K562	blood:	n/a	n/a
20	IRF1	chr1:84971683-84973686	K562	blood:	n/a	chr1:84973663-84973677 chr1:84972218-84972230 chr1:84973666-84973678 chr1:84972255-84972264
21	MXI1	chr1:84969756-84973236	IMR90	lung:	n/a	n/a
22	POLR2A	chr1:84957385-84973725	K562	blood:	n/a	n/a
23	TBP	chr1:84971999-84972892	Hela-S3	cervix:	n/a	n/a
24	ATF2	chr1:84971938-84972897	GM12878	blood:	n/a	n/a
25	EGR1	chr1:84971106-84972839	HCT-116	colon:	n/a	chr1:84971989-84972003 chr1:84972320-84972329 chr1:84972319-84972332 chr1:84971926-84971935
26	MAX	chr1:84970957-84972860	GM12878	blood:	n/a	n/a
27	RELA	chr1:84970322-84972863	GM18505	blood:	n/a	n/a
28	JUN	chr1:84971946-84972853	K562	blood:	n/a	chr1:84972305-84972317 chr1:84972307-84972316
29	TEAD4	chr1:84970869-84972817	K562	blood:	n/a	n/a
30	MAFF	chr1:84972546-84972840	K562	blood:	n/a	n/a
31	POLR2A	chr1:84971216-84972875	K562	blood:	n/a	n/a
32	TBP	chr1:84971863-84972855	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:84971370-84972859	GM10847	blood:	n/a	n/a
34	MYC	chr1:84970825-84972868	K562	blood:	n/a	n/a
35	NR2F2	chr1:84971625-84973035	K562	blood:	n/a	n/a
36	TBL1XR1	chr1:84971865-84973452	K562	blood:	n/a	n/a
37	TBL1XR1	chr1:84970903-84972867	K562	blood:	n/a	n/a
38	BRCA1	chr1:84971938-84972829	Hela-S3	cervix:	n/a	n/a
39	TAL1	chr1:84971710-84973268	K562	blood:	n/a	n/a
40	ARID3A	chr1:84971737-84973402	HepG2	liver:	n/a	n/a
41	MAX	chr1:84970330-84972931	NB4	blood:	n/a	n/a
42	POLR2A	chr1:84970149-84973052	PBDE	blood:	n/a	n/a
43	BCLAF1	chr1:84971167-84973006	GM12878	blood:	n/a	chr1:84972323-84972332 chr1:84971558-84971571
44	MAFK	chr1:84972004-84972884	K562	blood:	n/a	chr1:84972251-84972266
45	ARID3A	chr1:84972150-84973124	K562	blood:	n/a	n/a
46	MYC	chr1:84970992-84972917	K562	blood:	n/a	n/a
47	POLR2A	chr1:84970263-84972827	MCF10A-Er-Src	breast:	n/a	n/a
48	PML	chr1:84971264-84972861	K562	blood:	n/a	n/a
49	POLR2A	chr1:84970011-84973130	IMR90	lung:	n/a	n/a
50	EP300	chr1:84972067-84972972	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:84943777..84946552-chr1:84970497..84973179,2	MCF-7	breast:
2	chr1:84944684..84947410-chr1:84970225..84973395,6	MCF-7	breast:
3	chr1:84972325..84974748-chr1:85028304..85030920,3	K562	blood:
4	chr1:84969735..84979623-chr1:84983174..84994888,16	K562	blood:
5	chr1:84972229..84973001-chr12:6798534..6799186,2	Hela-S3	cervix:
6	chr1:84972312..84973826-chr1:85135487..85137593,2	K562	blood:
7	chr1:84970994..84973830-chr1:85154472..85157447,5	K562	blood:
8	chr1:84966614..84978118-chr1:85034515..85041986,38	K562	blood:
9	chr1:84966967..84974535-chr1:85036439..85041823,24	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPF1-1	chr1:84972560-84973003	NONHSAT004206

Variant related genes	Relation type
GNG5	TF binding region
ENSG00000122432	Chromatin interaction
ENSG00000126746	Chromatin interaction
ENSG00000117155	Chromatin interaction
ENSG00000117151	Chromatin interaction
ENSG00000117133	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10493754	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10874449	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11163973	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11163974	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11163975	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11163976	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11163982	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163985	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163986	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11163987	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163993	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11164001	0.85[ASN][1000 genomes]
rs12075532	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12354394	0.85[ASN][1000 genomes]
rs13093	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110164	1.00[ASN][1000 genomes]
rs17110485	1.00[ASN][1000 genomes]
rs17110590	1.00[ASN][1000 genomes]
rs17110949	0.85[ASN][1000 genomes]
rs3768247	0.84[ASN][1000 genomes]
rs56876287	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576712	0.85[ASN][1000 genomes]
rs6576714	0.82[ASN][1000 genomes]
rs6658034	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6658974	1.00[ASN][1000 genomes]
rs6660306	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6662644	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662683	1.00[ASN][1000 genomes]
rs6666052	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6666572	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6668752	1.00[ASN][1000 genomes]
rs6669593	0.85[ASN][1000 genomes]
rs6676502	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6684882	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688208	0.85[ASN][1000 genomes]
rs6690906	0.82[ASN][1000 genomes]
rs6701280	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72948416	0.88[ASN][1000 genomes]
rs7524576	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7532298	0.82[ASN][1000 genomes]
rs7539413	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541850	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7541909	1.00[ASN][1000 genomes]
rs7547208	1.00[ASN][1000 genomes]
rs7551329	0.91[ASN][1000 genomes]
rs7555773	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555821	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr1:84968800-84973200	Active TSS	Right Ventricle	heart
2	chr1:84969000-84973000	Active TSS	Left Ventricle	heart
3	chr1:84969200-84973200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:84969400-84973200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:84969800-84973000	Active TSS	Muscle Satellite Cultured Cells	--
6	chr1:84969800-84973000	Active TSS	Aorta	Aorta
7	chr1:84969800-84973000	Active TSS	HSMM	muscle
8	chr1:84970000-84973000	Active TSS	Stomach Smooth Muscle	stomach
9	chr1:84970000-84973200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:84970000-84973200	Active TSS	Fetal Intestine Large	intestine
11	chr1:84970000-84973600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:84970000-84973600	Active TSS	GM12878-XiMat	blood
13	chr1:84970000-84973600	Active TSS	NHLF	lung
14	chr1:84970200-84973000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:84970200-84973000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:84970200-84973000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:84970200-84973000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:84970200-84973000	Active TSS	Fetal Muscle Trunk	muscle
19	chr1:84970200-84973000	Active TSS	HSMMtube	muscle
20	chr1:84970200-84973000	Active TSS	NH-A	brain
21	chr1:84970200-84973200	Active TSS	Psoas Muscle	Psoas
22	chr1:84970200-84973200	Active TSS	NHDF-Ad	bronchial
23	chr1:84970200-84973400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:84970200-84973400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:84970400-84973000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:84970400-84973000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:84970400-84973000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:84970400-84973000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr1:84970400-84973000	Active TSS	Fetal Intestine Small	intestine
30	chr1:84970400-84973000	Active TSS	Rectal Smooth Muscle	rectum
31	chr1:84970400-84973000	Active TSS	NHEK	skin
32	chr1:84970400-84973200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr1:84970400-84973200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:84970400-84973200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:84970400-84973400	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr1:84970400-84973600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:84970400-84973600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:84970400-84973600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:84970400-84973600	Active TSS	A549	lung
40	chr1:84970600-84973000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr1:84970600-84973000	Active TSS	Primary T cells fromperipheralblood	blood
42	chr1:84970600-84973000	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr1:84970600-84973000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:84970600-84973000	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr1:84970600-84973000	Active TSS	Colon Smooth Muscle	Colon
46	chr1:84970600-84973000	Active TSS	Fetal Heart	heart
47	chr1:84970600-84973000	Active TSS	Fetal Lung	lung
48	chr1:84970600-84973000	Active TSS	Fetal Muscle Leg	muscle
49	chr1:84970600-84973000	Active TSS	Fetal Stomach	stomach
50	chr1:84970600-84973000	Active TSS	Sigmoid Colon	Sigmoid Colon

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