Variant report

Variant	rs1623480
Chromosome Location	chr1:151746524-151746525
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr1:151746338-151746567	K562	blood:	n/a	n/a
2	POLR2A	chr1:151746330-151746625	MCF10A-Er-Src	breast:	n/a	n/a
3	JUND	chr1:151746194-151746538	K562	blood:	n/a	n/a
4	FOS	chr1:151746166-151746613	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr1:151746193-151746552	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr1:151746166-151746627	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr1:151746202-151746584	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr1:151746160-151746628	MCF10A-Er-Src	breast:	n/a	n/a
9	FOSL1	chr1:151746123-151746611	HCT-116	colon:	n/a	n/a
10	MYC	chr1:151746220-151746524	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr1:151746288-151746524	MCF10A-Er-Src	breast:	n/a	n/a
12	JUN	chr1:151746161-151747594	K562	blood:	n/a	n/a
13	STAT3	chr1:151746185-151746581	MCF10A-Er-Src	breast:	n/a	n/a
14	FOSL1	chr1:151746248-151746580	K562	blood:	n/a	n/a
15	FOS	chr1:151746141-151746596	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr1:151745960-151746539	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr1:151746174-151746569	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151734673..151739235-chr1:151743434..151748412,7	K562	blood:
2	chr1:151744403..151747362-chr3:64316388..64318977,2	MCF-7	breast:
3	chr1:151743016..151748388-chr1:151755339..151760990,6	MCF-7	breast:
4	chr1:151737417..151739584-chr1:151745099..151746694,2	K562	blood:
5	chr1:151741435..151743883-chr1:151746073..151749758,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249602	TF binding region
ENSG00000249602	Chromatin interaction
ENSG00000232937	Chromatin interaction
ENSG00000268288	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000143436	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1054475	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1123855	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586691	0.91[EUR][1000 genomes]
rs11806815	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12748967	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12756855	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1781420	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1781421	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1781423	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1781424	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1915544	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1996729	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996731	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996732	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460997	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2495396	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35077383	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35834074	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3828057	0.85[ASN][1000 genomes]
rs4240870	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4484926	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4634911	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4845355	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4845556	0.96[EUR][1000 genomes]
rs4995159	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55982513	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60136317	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61815091	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61815098	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61815099	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6587619	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6672920	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680404	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6684101	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521817	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7523001	0.83[EUR][1000 genomes]
rs7529549	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs868866	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs868867	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151736600-151746600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:151736600-151751000	Weak transcription	Ovary	ovary
3	chr1:151736800-151746600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:151736800-151746600	Weak transcription	Psoas Muscle	Psoas
5	chr1:151736800-151746800	Weak transcription	Left Ventricle	heart
6	chr1:151736800-151746800	Weak transcription	Spleen	Spleen
7	chr1:151736800-151747200	Weak transcription	Fetal Brain Male	brain
8	chr1:151736800-151747400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:151736800-151747800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:151736800-151748000	Weak transcription	Colonic Mucosa	Colon
11	chr1:151736800-151750800	Weak transcription	Right Atrium	heart
12	chr1:151736800-151762600	Weak transcription	Gastric	stomach
13	chr1:151737000-151746600	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:151737000-151747400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:151737000-151747800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:151737000-151748000	Weak transcription	Fetal Stomach	stomach
17	chr1:151737000-151748400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:151737000-151752200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:151737000-151762400	Weak transcription	Fetal Intestine Small	intestine
20	chr1:151737000-151762400	Weak transcription	HSMMtube	muscle
21	chr1:151737000-151762600	Weak transcription	Small Intestine	intestine
22	chr1:151737200-151748000	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:151737200-151753800	Weak transcription	A549	lung
24	chr1:151737800-151748400	Weak transcription	HepG2	liver
25	chr1:151738600-151750600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:151739400-151753200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:151740800-151747400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:151740800-151759000	Weak transcription	Esophagus	oesophagus
29	chr1:151741000-151747000	Weak transcription	Pancreas	Pancrea
30	chr1:151741000-151762600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:151741200-151746600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:151741200-151753000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:151741200-151756200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr1:151742400-151755200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:151742800-151762600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:151744000-151762200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:151744200-151750600	Weak transcription	Fetal Intestine Large	intestine
38	chr1:151744600-151762200	Weak transcription	Primary B cells from cord blood	blood
39	chr1:151745200-151752600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:151745200-151752800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:151745400-151749800	Strong transcription	Fetal Brain Female	brain
42	chr1:151745400-151753200	Weak transcription	Fetal Kidney	kidney
43	chr1:151745400-151755600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:151745600-151746800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:151745600-151754400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:151745600-151755400	Strong transcription	Primary T cells from cord blood	blood
47	chr1:151745800-151746800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:151745800-151747000	Enhancers	NHEK	skin
49	chr1:151745800-151747200	Enhancers	HMEC	breast
50	chr1:151745800-151747400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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