Variant report

Variant	rs7583051
Chromosome Location	chr2:55276694-55276695
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	CTCF	chr2:55276680-55276830	HFF-Myc	foreskin:	n/a	n/a
2	BACH1	chr2:55276062-55276744	K562	blood:	n/a	n/a
3	POLR2A	chr2:55274972-55276826	MCF10A-Er-Src	breast:	n/a	n/a
4	CTCF	chr2:55275939-55276996	MCF-7	breast:	n/a	n/a
5	ATF2	chr2:55275822-55276750	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:55275630-55278124	H1-neurons	neurons:	n/a	n/a
7	CTCF	chr2:55276632-55276828	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr2:55276660-55276810	SAEC	small airway:	n/a	n/a
9	HEY1	chr2:55275999-55276818	HepG2	liver:	n/a	chr2:55276192-55276207 chr2:55276639-55276654
10	POLR2A	chr2:55275958-55278821	HUVEC	blood vessel:	n/a	n/a
11	UBTF	chr2:55274752-55278735	K562	blood:	n/a	n/a
12	JUND	chr2:55276073-55276858	H1-hESC	embryonic stem cell:	n/a	n/a
13	TBL1XR1	chr2:55276053-55276828	GM12878	blood:	n/a	n/a
14	TAF1	chr2:55276022-55276966	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr2:55276021-55278144	GM12892	blood:	n/a	n/a
16	REST	chr2:55275997-55276929	HL-60	blood:	n/a	chr2:55276641-55276651 chr2:55276185-55276195
17	MAZ	chr2:55276044-55276849	HepG2	liver:	n/a	chr2:55276654-55276661 chr2:55276651-55276662 chr2:55276832-55276842
18	HA-E2F1	chr2:55276534-55278194	Hela-S3	cervix:	n/a	chr2:55277644-55277654 chr2:55277750-55277759 chr2:55277985-55277994
19	MXI1	chr2:55275835-55276822	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr2:55274782-55276825	MCF10A-Er-Src	breast:	n/a	chr2:55276654-55276661 chr2:55274921-55274929 chr2:55276651-55276662
21	POLR2A	chr2:55275602-55278945	HCT-116	colon:	n/a	n/a
22	SIX5	chr2:55275689-55276830	A549	lung:	n/a	n/a
23	CTCF	chr2:55276660-55276810	GM12865	blood:	n/a	n/a
24	POLR2A	chr2:55276100-55276979	A549	lung:	n/a	n/a
25	SIN3A	chr2:55275650-55278654	H1-hESC	embryonic stem cell:	n/a	chr2:55276189-55276200
26	CTCF	chr2:55276680-55276830	AG04450	lung:	n/a	n/a
27	RCOR1	chr2:55275614-55278876	Hela-S3	cervix:	n/a	n/a
28	MAX	chr2:55275666-55276840	HepG2	liver:	n/a	chr2:55276654-55276661 chr2:55276651-55276662
29	RAD21	chr2:55276632-55276884	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr2:55276660-55276810	HMF	breast:	n/a	n/a
31	CTCF	chr2:55276660-55276810	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr2:55276660-55276810	GM12873	blood:	n/a	n/a
33	POLR2A	chr2:55275945-55277855	H1-hESC	embryonic stem cell:	n/a	n/a
34	YY1	chr2:55275627-55276776	SK-N-SH	brain:	n/a	chr2:55275988-55276000
35	JUND	chr2:55275956-55278211	A549	lung:	n/a	chr2:55277700-55277711 chr2:55277702-55277711
36	POLR2A	chr2:55275648-55278177	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr2:55276591-55276918	GM12878	blood:	n/a	n/a
38	E2F6	chr2:55275649-55277970	K562	blood:	n/a	chr2:55277644-55277654 chr2:55277750-55277759 chr2:55277739-55277750
39	POLR2A	chr2:55275829-55278945	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr2:55276530-55277763	A549	lung:	n/a	n/a
41	TCF12	chr2:55275501-55278974	A549	lung:	n/a	chr2:55277949-55277956 chr2:55275946-55275954 chr2:55278509-55278518
42	POLR2A	chr2:55276628-55276898	GM12892	blood:	n/a	n/a
43	MYC	chr2:55276675-55276698	MCF-7	breast:	n/a	n/a
44	YY1	chr2:55275945-55278103	HepG2	liver:	n/a	chr2:55275988-55276000 chr2:55277646-55277655
45	YY1	chr2:55276557-55277835	GM12892	blood:	n/a	chr2:55277646-55277655
46	POLR2A	chr2:55276156-55278129	GM12878	blood:	n/a	n/a
47	MXI1	chr2:55275607-55278907	IMR90	lung:	n/a	n/a
48	RAD21	chr2:55275699-55276929	H1-hESC	embryonic stem cell:	n/a	n/a
49	MTA3	chr2:55275607-55276963	GM12878	blood:	n/a	n/a
50	MYC	chr2:55276582-55276749	Hela-S3	cervix:	n/a	chr2:55276654-55276661 chr2:55276651-55276662

No.	Distal block	Cell Line	Cell type
1	chr2:55276693..55277573-chr6:111195681..111196480,2	Hela-S3	cervix:
2	chr2:55276186..55276706-chr3:196255375..196256006,2	HCT-116	colon:
3	chr2:55274992..55277411-chr2:55494676..55497816,3	K562	blood:
4	chr2:55273237..55280299-chr2:55335301..55344768,18	K562	blood:
5	chr2:47403669..47404620-chr2:55276543..55277090,2	Hela-S3	cervix:
6	chr17:42422635..42423385-chr2:55276169..55277154,2	Hela-S3	cervix:
7	chr2:55241176..55242945-chr2:55276344..55278140,2	MCF-7	breast:
8	chr2:55276285..55277088-chr20:57466816..57467609,2	Hela-S3	cervix:
9	chr2:55274992..55276773-chr2:55494676..55496447,2	K562	blood:
10	chr2:55275304..55279887-chr2:55458370..55461390,5	K562	blood:
11	chr2:54196421..54198197-chr2:55274517..55277399,2	MCF-7	breast:
12	chr2:55276121..55279274-chr2:55457448..55460901,6	K562	blood:
13	chr2:55273237..55279836-chr2:55336432..55344363,17	K562	blood:
14	chr11:62608914..62609546-chr2:55276069..55276970,3	Hela-S3	cervix:
15	chr2:55275101..55276800-chr2:55441099..55444085,2	K562	blood:
16	chr17:79479167..79480016-chr2:55276612..55277205,2	Hela-S3	cervix:
17	chr2:55276176..55276756-chr7:100209468..100210247,2	Hela-S3	cervix:
18	chr2:55276251..55278794-chr2:55450594..55452106,2	MCF-7	breast:

Variant related genes	Relation type
RTN4	TF binding region
ENSG00000068878	Chromatin interaction
ENSG00000087460	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000085760	Chromatin interaction
ENSG00000162994	Chromatin interaction
ENSG00000200086	Chromatin interaction
ENSG00000115310	Chromatin interaction
ENSG00000184009	Chromatin interaction
ENSG00000227799	Chromatin interaction
ENSG00000170634	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000030582	Chromatin interaction
ENSG00000213358	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000203327	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000123505	Chromatin interaction
ENSG00000266376	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56153341	0.96[AFR][1000 genomes]
rs56244204	0.90[AFR][1000 genomes]
rs57068800	0.93[AFR][1000 genomes]
rs58954291	1.00[AFR][1000 genomes]
rs60109716	1.00[AFR][1000 genomes]
rs61344395	0.81[AFR][1000 genomes]
rs72910860	0.86[AFR][1000 genomes]
rs72910870	1.00[AFR][1000 genomes]
rs72912565	0.96[AFR][1000 genomes]
rs72912586	1.00[AFR][1000 genomes]
rs72912589	0.93[AFR][1000 genomes]
rs72912597	1.00[AFR][1000 genomes]
rs72914504	1.00[AFR][1000 genomes]
rs72914511	0.93[AFR][1000 genomes]
rs72914518	0.81[AFR][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	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55271400-55278200	Active TSS	HSMMtube	muscle
2	chr2:55272400-55279600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:55273000-55276800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr2:55273200-55278400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr2:55273200-55278400	Active TSS	GM12878-XiMat	blood
6	chr2:55273400-55279800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:55273800-55278600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr2:55273800-55278600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:55273800-55279000	Active TSS	Psoas Muscle	Psoas
10	chr2:55273800-55279200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:55274000-55278200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:55274000-55278200	Active TSS	NH-A	brain
13	chr2:55274200-55278400	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr2:55274200-55278600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:55274200-55278600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:55274200-55279000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:55274200-55279200	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr2:55274200-55279600	Active TSS	HMEC	breast
19	chr2:55274400-55278800	Active TSS	Fetal Brain Male	brain
20	chr2:55274600-55276800	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr2:55274600-55276800	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr2:55274600-55278000	Active TSS	Osteobl	bone
23	chr2:55274600-55278400	Active TSS	Fetal Muscle Leg	muscle
24	chr2:55274600-55278400	Active TSS	Fetal Stomach	stomach
25	chr2:55274600-55278600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:55274600-55278600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr2:55274600-55278800	Active TSS	Aorta	Aorta
28	chr2:55274600-55278800	Active TSS	Fetal Muscle Trunk	muscle
29	chr2:55274600-55279200	Active TSS	NHEK	skin
30	chr2:55274800-55278200	Active TSS	Fetal Intestine Large	intestine
31	chr2:55274800-55278400	Active TSS	Colon Smooth Muscle	Colon
32	chr2:55274800-55278400	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr2:55274800-55278600	Active TSS	Hela-S3	cervix
34	chr2:55274800-55278800	Active TSS	Ovary	ovary
35	chr2:55274800-55279000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr2:55274800-55279000	Active TSS	Right Ventricle	heart
37	chr2:55275000-55278000	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr2:55275000-55278200	Active TSS	Brain Angular Gyrus	brain
39	chr2:55275000-55278200	Active TSS	Lung	lung
40	chr2:55275000-55278400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr2:55275000-55278400	Active TSS	Stomach Smooth Muscle	stomach
42	chr2:55275000-55278600	Active TSS	Colonic Mucosa	Colon
43	chr2:55275000-55278800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:55275000-55278800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:55275000-55279400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr2:55275000-55279400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:55275200-55276800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:55275200-55278200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:55275200-55278400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:55275200-55278400	Active TSS	Cortex derived primary cultured neurospheres	brain

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