Variant report

Variant	rs1054479
Chromosome Location	chr1:151746079-151746080
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr1:151745960-151746539	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151746047-151746097	GM12891	blood:	n/a
2	chr1:151746047-151746097	HMEC	breast:	n/a
3	chr1:151746047-151746097	NB4	blood:	n/a
4	chr1:151746047-151746097	Hela-S3	cervix:	n/a
5	chr1:151746047-151746097	HepG2	liver:	n/a
6	chr1:151746047-151746097	AG04450	lung:	fetal
7	chr1:151746047-151746097	AG09319	gingival:	n/a
8	chr1:151746047-151746097	PrEC	prostate:	n/a
9	chr1:151746047-151746097	AoSMC	blood vessel:	n/a
10	chr1:151746047-151746097	SAEC	small airway:	n/a
11	chr1:151746047-151746097	NHDF-neo	bronchial:	n/a
12	chr1:151746047-151746097	GM12878	blood:	n/a
13	chr1:151746047-151746097	HUVEC	blood vessel:	n/a
14	chr1:151746047-151746097	HRE	kidney:	n/a
15	chr1:151746047-151746097	HEK293	kidney:	embryo
16	chr1:151746047-151746097	HEEpiC	esophagus:	n/a
17	chr1:151746047-151746097	K562	blood:	n/a
18	chr1:151746047-151746097	NHBE	bronchial:	n/a
19	chr1:151746047-151746097	MCF-7	breast:	n/a
20	chr1:151746047-151746097	HL-60	blood:	n/a
21	chr1:151746047-151746097	SK-N-SH	brain:	n/a
22	chr1:151746047-151746097	BE2_C	brain:	n/a
23	chr1:151746047-151746097	RPTEC	kidney:	n/a
24	chr1:151746047-151746097	HCM	heart:	n/a
25	chr1:151746047-151746097	AG04449	skin:	fetal
26	chr1:151746047-151746097	MCF10A-Er-Src	breast:	n/a
27	chr1:151746047-151746097	HRPEpiC	eye:	n/a
28	chr1:151746047-151746097	ProgFib	skin:	n/a
29	chr1:151746047-151746097	GM06990	blood:	n/a
30	chr1:151746047-151746097	GM12892	blood:	n/a
31	chr1:151746047-151746097	T-47D	breast:	n/a
32	chr1:151746047-151746097	PFSK-1	brain:	n/a
33	chr1:151746047-151746097	A549	lung:	n/a
34	chr1:151746047-151746097	HAEpiC	amniotic membrane:	n/a
35	chr1:151746047-151746097	IMR90	lung:	fetal
36	chr1:151746047-151746097	Jurkat	blood:	n/a
37	chr1:151746047-151746097	CMK	blood:	n/a
38	chr1:151746047-151746097	HCF	heart:	n/a
39	chr1:151746047-151746097	PANC-1	pancreas:	n/a
40	chr1:151746047-151746097	AG10803	skin:	n/a
41	chr1:151746047-151746097	AG09309	skin:	n/a
42	chr1:151746047-151746097	SK-N-MC	brain:	n/a
43	chr1:151746047-151746097	SK-N-SH_RA	brain:	n/a
44	chr1:151746047-151746097	NH-A	brain:	n/a
45	chr1:151746047-151746097	HNPCEpiC	eye:	n/a
46	chr1:151746047-151746097	Hepatocyte	liver:	n/a
47	chr1:151746047-151746097	NT2-D1	testis:	n/a
48	chr1:151746047-151746097	HRCEpiC	kidney:	n/a
49	chr1:151746047-151746097	HCT-116	colon:	n/a
50	chr1:151746047-151746097	ovcar-3	ovarian:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151734673..151739235-chr1:151743434..151748412,7	K562	blood:
2	chr1:151744411..151746345-chr1:151749411..151752360,2	K562	blood:
3	chr1:151744403..151747362-chr3:64316388..64318977,2	MCF-7	breast:
4	chr1:151743016..151748388-chr1:151755339..151760990,6	MCF-7	breast:
5	chr1:151737417..151739584-chr1:151745099..151746694,2	K562	blood:
6	chr1:151741435..151743883-chr1:151746073..151749758,4	K562	blood:

No data

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10788809	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11204884	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11204892	0.95[EUR][1000 genomes]
rs11585294	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11586946	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11588258	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11588634	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11810571	0.97[EUR][1000 genomes]
rs1196456	0.97[EUR][1000 genomes]
rs12122917	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12238987	0.97[EUR][1000 genomes]
rs13376155	0.85[AMR][1000 genomes]
rs1521185	0.97[EUR][1000 genomes]
rs17568246	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3790514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3811414	0.97[EUR][1000 genomes]
rs3811415	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3811416	0.97[EUR][1000 genomes]
rs4504897	0.97[EUR][1000 genomes]
rs4618976	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4845356	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4845570	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4845579	0.97[EUR][1000 genomes]
rs61815078	0.82[AMR][1000 genomes]
rs6659705	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6664467	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6673002	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6673917	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6681093	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6683364	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6694952	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7007	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7416415	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7542898	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151736600-151746200	Weak transcription	Thymus	Thymus
2	chr1:151736600-151746600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:151736600-151751000	Weak transcription	Ovary	ovary
4	chr1:151736800-151746200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:151736800-151746200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:151736800-151746200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:151736800-151746200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:151736800-151746200	Weak transcription	Brain Anterior Caudate	brain
9	chr1:151736800-151746200	Weak transcription	Fetal Thymus	thymus
10	chr1:151736800-151746400	Weak transcription	Aorta	Aorta
11	chr1:151736800-151746400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:151736800-151746400	Weak transcription	Right Ventricle	heart
13	chr1:151736800-151746600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:151736800-151746600	Weak transcription	Psoas Muscle	Psoas
15	chr1:151736800-151746800	Weak transcription	Left Ventricle	heart
16	chr1:151736800-151746800	Weak transcription	Spleen	Spleen
17	chr1:151736800-151747200	Weak transcription	Fetal Brain Male	brain
18	chr1:151736800-151747400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:151736800-151747800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:151736800-151748000	Weak transcription	Colonic Mucosa	Colon
21	chr1:151736800-151750800	Weak transcription	Right Atrium	heart
22	chr1:151736800-151762600	Weak transcription	Gastric	stomach
23	chr1:151737000-151746200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:151737000-151746200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:151737000-151746400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:151737000-151746400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:151737000-151746400	Weak transcription	Brain Angular Gyrus	brain
28	chr1:151737000-151746400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:151737000-151746400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:151737000-151746400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:151737000-151746400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:151737000-151746400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:151737000-151746400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:151737000-151746600	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:151737000-151747400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:151737000-151747800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:151737000-151748000	Weak transcription	Fetal Stomach	stomach
38	chr1:151737000-151748400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:151737000-151752200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:151737000-151762400	Weak transcription	Fetal Intestine Small	intestine
41	chr1:151737000-151762400	Weak transcription	HSMMtube	muscle
42	chr1:151737000-151762600	Weak transcription	Small Intestine	intestine
43	chr1:151737200-151746200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:151737200-151746400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:151737200-151746400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:151737200-151746400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:151737200-151748000	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:151737200-151753800	Weak transcription	A549	lung
49	chr1:151737400-151746200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:151737800-151748400	Weak transcription	HepG2	liver

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