Variant report

Variant	rs348749
Chromosome Location	chr5:154317059-154317060
allele	A/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	POLR2A	chr5:154316704-154318144	K562	blood:	n/a	n/a
2	POLR2A	chr5:154316446-154318231	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr5:154317025-154318196	GM12892	blood:	n/a	n/a
4	MAX	chr5:154316602-154318254	HCT-116	colon:	n/a	chr5:154317307-154317316
5	MAX	chr5:154316868-154318014	HUVEC	blood vessel:	n/a	chr5:154317307-154317316
6	MXI1	chr5:154316731-154318097	GM12878	blood:	n/a	chr5:154317308-154317317
7	USF1	chr5:154316497-154317475	HCT-116	colon:	n/a	chr5:154316917-154316928
8	MXI1	chr5:154316800-154318077	HepG2	liver:	n/a	chr5:154317308-154317317
9	RCOR1	chr5:154316581-154318112	K562	blood:	n/a	n/a
10	MAX	chr5:154316968-154318080	SK-N-SH	brain:	n/a	chr5:154317307-154317316
11	USF1	chr5:154316746-154317130	K562	blood:	n/a	chr5:154316917-154316928
12	MYC	chr5:154316771-154318082	MCF10A-Er-Src	breast:	n/a	chr5:154317307-154317316
13	USF1	chr5:154316771-154317093	A549	lung:	n/a	chr5:154316917-154316928
14	MAX	chr5:154316802-154318060	A549	lung:	n/a	chr5:154317307-154317316
15	MAX	chr5:154316729-154318092	K562	blood:	n/a	chr5:154317307-154317316
16	MAX	chr5:154316774-154318141	H1-hESC	embryonic stem cell:	n/a	chr5:154317307-154317316
17	POLR2A	chr5:154316545-154317122	HepG2	liver:	n/a	n/a
18	MYC	chr5:154316797-154318175	A549	lung:	n/a	chr5:154317307-154317316
19	SIN3AK20	chr5:154316919-154318272	MCF-7	breast:	n/a	n/a
20	POLR2A	chr5:154316828-154318267	PFSK-1	brain:	n/a	n/a
21	MXI1	chr5:154316419-154318410	SK-N-SH	brain:	n/a	chr5:154317308-154317317
22	MYC	chr5:154316576-154318031	K562	blood:	n/a	chr5:154317307-154317316
23	MYC	chr5:154316823-154318092	K562	blood:	n/a	chr5:154317307-154317316
24	KAP1	chr5:154316835-154318168	HEK293	kidney:	n/a	n/a
25	UBTF	chr5:154317014-154318001	K562	blood:	n/a	n/a
26	POLR2A	chr5:154317047-154318138	ECC-1	luminal epithelium:	n/a	n/a
27	MAX	chr5:154316737-154318159	HepG2	liver:	n/a	chr5:154317307-154317316
28	POLR2A	chr5:154316715-154318121	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr5:154316883-154318099	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:154316917-154318086	MCF10A-Er-Src	breast:	n/a	n/a
31	USF2	chr5:154316757-154317098	H1-hESC	embryonic stem cell:	n/a	chr5:154316917-154316928
32	HCFC1	chr5:154316947-154318176	Hela-S3	cervix:	n/a	n/a
33	USF1	chr5:154316645-154317143	A549	lung:	n/a	chr5:154316917-154316928
34	USF1	chr5:154316770-154317078	H1-hESC	embryonic stem cell:	n/a	chr5:154316917-154316928
35	MAX	chr5:154316760-154318061	GM12878	blood:	n/a	chr5:154317307-154317316
36	MAX	chr5:154316668-154318317	A549	lung:	n/a	chr5:154317307-154317316
37	TBP	chr5:154316914-154318085	K562	blood:	n/a	n/a
38	MXI1	chr5:154316839-154318020	K562	blood:	n/a	chr5:154317308-154317317
39	MAZ	chr5:154316965-154318118	GM12878	blood:	n/a	chr5:154317307-154317316
40	CBX3	chr5:154316823-154318308	K562	blood:	n/a	n/a
41	YY1	chr5:154317006-154318117	HepG2	liver:	n/a	chr5:154317225-154317236
42	MAX	chr5:154316901-154318151	ECC-1	luminal epithelium:	n/a	chr5:154317307-154317316
43	E2F6	chr5:154316538-154318146	K562	blood:	n/a	chr5:154317846-154317857
44	POLR2A	chr5:154316802-154318092	GM12878	blood:	n/a	n/a
45	POLR2A	chr5:154316572-154318232	H1-hESC	embryonic stem cell:	n/a	n/a
46	HA-E2F1	chr5:154316629-154318178	MCF-7	breast:	n/a	n/a
47	MAX	chr5:154316626-154318110	NB4	blood:	n/a	chr5:154317307-154317316
48	MYC	chr5:154316618-154318070	K562	blood:	n/a	chr5:154317307-154317316
49	USF2	chr5:154316729-154317462	Hela-S3	cervix:	n/a	chr5:154316917-154316928
50	MXI1	chr5:154316755-154317971	H1-hESC	embryonic stem cell:	n/a	chr5:154317308-154317317

No.	Distal block	Cell Line	Cell type
1	chr5:154133384..154135677-chr5:154316370..154317979,2	MCF-7	breast:
2	chr5:154235585..154240256-chr5:154317008..154321464,8	K562	blood:
3	chr5:154235909..154239670-chr5:154316883..154321797,7	K562	blood:
4	chr5:154133833..154138436-chr5:154316104..154319386,7	K562	blood:
5	chr5:154133984..154137613-chr5:154316996..154320177,4	K562	blood:
6	chr5:154237411..154239680-chr5:154315591..154318152,3	MCF-7	breast:
7	chr5:154309263..154312021-chr5:154315547..154318258,3	MCF-7	breast:
8	chr14:23788521..23791301-chr5:154315784..154318689,2	MCF-7	breast:
9	chr5:154314869..154319173-chr5:154319212..154322644,7	K562	blood:
10	chr5:154316157..154317666-chr5:154402929..154404853,2	MCF-7	breast:
11	chr5:154236188..154239312-chr5:154315571..154321975,7	MCF-7	breast:

Variant related genes	Relation type
MRPL22	TF binding region
ENSG00000082516	Chromatin interaction
ENSG00000155506	Chromatin interaction
ENSG00000170271	Chromatin interaction
ENSG00000221131	Chromatin interaction
ENSG00000082515	Chromatin interaction
ENSG00000155508	Chromatin interaction
ENSG00000100836	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1035368	0.86[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10515727	0.80[AMR][1000 genomes]
rs12187890	0.80[AMR][1000 genomes]
rs12187921	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12188828	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs12300	0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1421819	0.80[AMR][1000 genomes]
rs164195	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17116411	0.81[EUR][1000 genomes]
rs17116414	0.81[EUR][1000 genomes]
rs17116421	0.86[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17116433	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17116442	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17116534	0.86[CEU][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs180846	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186971	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1974776	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1974777	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2042168	1.00[CHB][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2112223	1.00[CEU][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2161128	1.00[CHB][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2258437	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2431184	0.85[ASN][1000 genomes]
rs2544859	0.82[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2544860	0.85[CHB][hapmap]
rs2544866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2544874	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2544875	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2544876	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2544880	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2544884	0.86[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2560063	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2644743	0.86[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2644744	0.86[CEU][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2644746	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2688186	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2688187	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2688188	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2688189	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2688190	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2688191	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2688193	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2688194	0.82[EUR][1000 genomes]
rs2688195	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2688198	0.86[CEU][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2688199	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2688200	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2688201	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2688206	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2688208	0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs32427	0.85[CHB][hapmap]
rs348739	0.86[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348750	0.86[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348751	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348752	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348754	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs39614	0.86[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4354100	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs454161	0.85[ASN][1000 genomes]
rs4958771	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55770418	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56374414	0.84[EUR][1000 genomes]
rs58415346	0.81[EUR][1000 genomes]
rs59525998	0.84[EUR][1000 genomes]
rs59749917	0.84[EUR][1000 genomes]
rs6879277	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6884416	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs702742	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73276742	0.81[EUR][1000 genomes]
rs73280705	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73807206	0.80[AMR][1000 genomes]
rs73807213	0.80[AMR][1000 genomes]
rs7723269	0.81[EUR][1000 genomes]
rs816717	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs816718	0.86[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs816720	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs816722	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs816743	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs816747	0.82[CHB][hapmap]
rs888694	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs960499	0.82[CHB][hapmap]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154316200-154317200	Flanking Active TSS	Brain Germinal Matrix	brain
2	chr5:154316200-154317200	Flanking Active TSS	HMEC	breast
3	chr5:154316200-154317200	Flanking Active TSS	HUVEC	blood vessel
4	chr5:154316200-154317400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr5:154316200-154317400	Flanking Active TSS	Dnd41	blood
6	chr5:154316400-154317200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:154316400-154317200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:154316400-154317200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:154316400-154317200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr5:154316400-154317200	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr5:154316400-154317200	Flanking Active TSS	Fetal Heart	heart
12	chr5:154316400-154317200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:154316400-154317200	Flanking Active TSS	Hela-S3	cervix
14	chr5:154316400-154317200	Flanking Active TSS	NHDF-Ad	bronchial
15	chr5:154316400-154317200	Flanking Active TSS	NHLF	lung
16	chr5:154316400-154317400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:154316400-154317400	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr5:154316400-154317400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr5:154316400-154317400	Flanking Active TSS	Osteobl	bone
20	chr5:154316400-154317800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:154316400-154318000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr5:154316400-154318200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:154316400-154318200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:154316400-154318400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:154316600-154317200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:154316600-154317200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr5:154316600-154317200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr5:154316600-154317200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr5:154316600-154317200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:154316600-154317200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:154316600-154317200	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr5:154316600-154317200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr5:154316600-154317200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:154316600-154317200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr5:154316600-154317200	Flanking Active TSS	Fetal Brain Female	brain
36	chr5:154316600-154317200	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr5:154316600-154317200	Flanking Active TSS	Fetal Lung	lung
38	chr5:154316600-154317200	Active TSS	Fetal Muscle Trunk	muscle
39	chr5:154316600-154317200	Flanking Active TSS	Pancreas	Pancrea
40	chr5:154316600-154317200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr5:154316600-154317200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr5:154316600-154317200	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr5:154316600-154317200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr5:154316600-154317200	Enhancers	Spleen	Spleen
45	chr5:154316600-154317200	Flanking Active TSS	HSMM	muscle
46	chr5:154316600-154317200	Flanking Active TSS	HSMMtube	muscle
47	chr5:154316600-154317200	Flanking Active TSS	NH-A	brain
48	chr5:154316600-154317400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:154316600-154317400	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr5:154316600-154317400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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