Variant report

Variant	rs6759040
Chromosome Location	chr2:114644808-114644809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr2:114643843-114644947	GM12891	blood:	n/a	n/a
2	IKZF1	chr2:114643855-114644893	GM12878	blood:	n/a	n/a
3	TBL1XR1	chr2:114643899-114645673	GM12878	blood:	n/a	n/a
4	MAX	chr2:114644011-114645220	GM12878	blood:	n/a	chr2:114645192-114645201
5	POLR2A	chr2:114643857-114649205	GM12891	blood:	n/a	n/a
6	FOXM1	chr2:114643843-114645101	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:114643797-114645592	GM12892	blood:	n/a	n/a
8	POLR2A	chr2:114643884-114645463	GM12891	blood:	n/a	n/a
9	POLR2A	chr2:114643825-114649166	GM12892	blood:	n/a	n/a
10	USF1	chr2:114644611-114644864	K562	blood:	n/a	n/a
11	RELA	chr2:114643899-114644866	GM18951	blood:	n/a	n/a
12	POLR2A	chr2:114643910-114650805	GM12878	blood:	n/a	n/a
13	EP300	chr2:114643890-114645790	GM12878	blood:	n/a	n/a
14	CHD2	chr2:114643902-114645210	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:114643844-114645758	GM12892	blood:	n/a	n/a
16	YY1	chr2:114643919-114644963	GM12878	blood:	n/a	n/a
17	PML	chr2:114643727-114645664	GM12878	blood:	n/a	chr2:114645560-114645568
18	YY1	chr2:114644573-114644892	GM12891	blood:	n/a	n/a
19	FOXM1	chr2:114643755-114644897	GM12878	blood:	n/a	n/a
20	MTA3	chr2:114643802-114645334	GM12878	blood:	n/a	n/a
21	RUNX3	chr2:114643797-114645529	GM12878	blood:	n/a	n/a
22	POLR2A	chr2:114644799-114649079	HepG2	liver:	n/a	n/a
23	TBP	chr2:114643949-114645241	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:114644717-114644914	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:114643942-114645322	GM12891	blood:	n/a	n/a
26	YY1	chr2:114644599-114644928	GM12892	blood:	n/a	n/a
27	BCL11A	chr2:114643868-114644920	GM12878	blood:	n/a	n/a
28	MYC	chr2:114644009-114645436	NB4	blood:	n/a	chr2:114645192-114645201
29	POLR2A	chr2:114643938-114649214	GM12892	blood:	n/a	n/a
30	RCOR1	chr2:114643855-114644822	GM12878	blood:	n/a	n/a
31	TCF7L2	chr2:114644592-114644845	PANC-1	pancreas:	n/a	n/a
32	STAT5A	chr2:114643847-114644890	GM12878	blood:	n/a	n/a
33	RELA	chr2:114643907-114645633	GM19099	blood:	n/a	n/a
34	POU2F2	chr2:114643891-114645320	GM12891	blood:	n/a	n/a
35	NFIC	chr2:114643735-114645192	GM12878	blood:	n/a	n/a
36	MAX	chr2:114644676-114644854	K562	blood:	n/a	n/a
37	NFATC1	chr2:114643760-114645350	GM12878	blood:	n/a	n/a
38	CHD1	chr2:114643932-114645664	GM12878	blood:	n/a	n/a
39	ATF2	chr2:114643801-114644970	GM12878	blood:	n/a	n/a
40	MXI1	chr2:114643929-114645511	GM12878	blood:	n/a	n/a
41	USF2	chr2:114644094-114645220	GM12878	blood:	n/a	n/a
42	BCLAF1	chr2:114643861-114644970	GM12878	blood:	n/a	n/a
43	ELF1	chr2:114643907-114644887	GM12878	blood:	n/a	chr2:114644289-114644302
44	YY1	chr2:114644612-114644961	GM12878	blood:	n/a	n/a
45	POLR2A	chr2:114643860-114645463	GM12892	blood:	n/a	n/a
46	RELA	chr2:114643888-114645088	GM10847	blood:	n/a	n/a
47	YY1	chr2:114644362-114644881	GM12892	blood:	n/a	n/a
48	JUN	chr2:114644166-114644951	K562	blood:	n/a	n/a
49	POLR2A	chr2:114644627-114645313	GM12891	blood:	n/a	n/a
50	JUND	chr2:114643921-114645705	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
2	chr2:114511479..114519908-chr2:114641728..114650266,13	MCF-7	breast:
3	chr2:114637447..114639972-chr2:114643641..114645350,2	MCF-7	breast:

No data

Variant related genes	Relation type
ACTR3	TF binding region
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10173891	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10179207	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10188927	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194262	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10195450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10199857	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10199930	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10204719	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10204979	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208093	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11123215	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11895582	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11895596	1.00[EUR][1000 genomes]
rs12617393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621090	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13387748	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13393280	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396357	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13426411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428539	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13429261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1467292	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1504043	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17040419	1.00[EUR][1000 genomes]
rs2047883	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177263	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3828257	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4278936	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4362566	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59450025	1.00[EUR][1000 genomes]
rs6542179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706992	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6717183	0.84[AFR][1000 genomes]
rs6724586	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732402	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6735673	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6741741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741785	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6742452	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6747278	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6758858	0.93[AFR][1000 genomes]
rs7561061	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7575874	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578772	0.91[AFR][1000 genomes]
rs7580099	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580260	0.89[AFR][1000 genomes]
rs7581859	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592252	0.93[AFR][1000 genomes]
rs924804	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114633800-114646800	Weak transcription	Aorta	Aorta
2	chr2:114634600-114645800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:114634600-114646000	Weak transcription	Brain Anterior Caudate	brain
4	chr2:114634600-114646200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:114635400-114646000	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:114635600-114645800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:114636800-114645400	Weak transcription	Fetal Intestine Large	intestine
8	chr2:114637800-114645800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:114638000-114645800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:114639000-114646600	Weak transcription	Ovary	ovary
11	chr2:114639800-114646800	Weak transcription	Gastric	stomach
12	chr2:114642200-114646000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:114642200-114646600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:114642400-114645400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:114642400-114646000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr2:114642600-114646000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:114642800-114646200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:114643000-114646400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:114643200-114645800	Enhancers	NHLF	lung
20	chr2:114643200-114646400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:114643200-114646400	Enhancers	Primary B cells from peripheral blood	blood
22	chr2:114643200-114646600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr2:114643200-114646600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:114643400-114646600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr2:114643600-114645600	Enhancers	Fetal Thymus	thymus
26	chr2:114643600-114646000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr2:114643800-114645000	Flanking Active TSS	Osteobl	bone
28	chr2:114643800-114645800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:114643800-114645800	Enhancers	HMEC	breast
30	chr2:114643800-114645800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr2:114643800-114646000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:114643800-114646200	Enhancers	Fetal Lung	lung
33	chr2:114643800-114646200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:114643800-114646400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:114643800-114646600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr2:114644000-114645000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:114644000-114645000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr2:114644000-114645000	Enhancers	Dnd41	blood
39	chr2:114644000-114645200	Enhancers	Stomach Mucosa	stomach
40	chr2:114644000-114645200	Flanking Active TSS	HSMMtube	muscle
41	chr2:114644000-114645400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:114644000-114645400	Enhancers	Placenta	Placenta
43	chr2:114644000-114645400	Enhancers	Right Atrium	heart
44	chr2:114644000-114645400	Enhancers	Thymus	Thymus
45	chr2:114644000-114645600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:114644000-114646000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:114644000-114646000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:114644000-114646000	Enhancers	Fetal Kidney	kidney
49	chr2:114644000-114646000	Enhancers	HepG2	liver
50	chr2:114644000-114646200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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