Variant report

Variant	rs13405706
Chromosome Location	chr2:114644736-114644737
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 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	MEF2A	chr2:114643891-114644764	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:114643884-114645463	GM12891	blood:	n/a	n/a
10	POLR2A	chr2:114643825-114649166	GM12892	blood:	n/a	n/a
11	USF1	chr2:114644611-114644864	K562	blood:	n/a	n/a
12	RELA	chr2:114643899-114644866	GM18951	blood:	n/a	n/a
13	POLR2A	chr2:114643910-114650805	GM12878	blood:	n/a	n/a
14	EP300	chr2:114643890-114645790	GM12878	blood:	n/a	n/a
15	CHD2	chr2:114643902-114645210	GM12878	blood:	n/a	n/a
16	PAX5	chr2:114643789-114644804	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:114643844-114645758	GM12892	blood:	n/a	n/a
18	YY1	chr2:114643919-114644963	GM12878	blood:	n/a	n/a
19	PML	chr2:114643727-114645664	GM12878	blood:	n/a	chr2:114645560-114645568
20	YY1	chr2:114644573-114644892	GM12891	blood:	n/a	n/a
21	FOXM1	chr2:114643755-114644897	GM12878	blood:	n/a	n/a
22	MTA3	chr2:114643802-114645334	GM12878	blood:	n/a	n/a
23	RUNX3	chr2:114643797-114645529	GM12878	blood:	n/a	n/a
24	TBP	chr2:114643949-114645241	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:114644717-114644914	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:114643942-114645322	GM12891	blood:	n/a	n/a
27	YY1	chr2:114644599-114644928	GM12892	blood:	n/a	n/a
28	BCL11A	chr2:114643868-114644920	GM12878	blood:	n/a	n/a
29	MYC	chr2:114644009-114645436	NB4	blood:	n/a	chr2:114645192-114645201
30	POLR2A	chr2:114643938-114649214	GM12892	blood:	n/a	n/a
31	RCOR1	chr2:114643855-114644822	GM12878	blood:	n/a	n/a
32	TCF7L2	chr2:114644592-114644845	PANC-1	pancreas:	n/a	n/a
33	STAT5A	chr2:114643847-114644890	GM12878	blood:	n/a	n/a
34	RELA	chr2:114643907-114645633	GM19099	blood:	n/a	n/a
35	POU2F2	chr2:114643891-114645320	GM12891	blood:	n/a	n/a
36	NFIC	chr2:114643735-114645192	GM12878	blood:	n/a	n/a
37	MAX	chr2:114644676-114644854	K562	blood:	n/a	n/a
38	NFATC1	chr2:114643760-114645350	GM12878	blood:	n/a	n/a
39	CHD1	chr2:114643932-114645664	GM12878	blood:	n/a	n/a
40	NFYB	chr2:114644081-114644747	GM12878	blood:	n/a	n/a
41	NFIC	chr2:114643793-114644776	GM12878	blood:	n/a	n/a
42	CEBPB	chr2:114643791-114644760	GM12878	blood:	n/a	chr2:114644023-114644036
43	ATF2	chr2:114643801-114644970	GM12878	blood:	n/a	n/a
44	MXI1	chr2:114643929-114645511	GM12878	blood:	n/a	n/a
45	USF2	chr2:114644094-114645220	GM12878	blood:	n/a	n/a
46	ZNF384	chr2:114643956-114644789	GM12878	blood:	n/a	n/a
47	BCLAF1	chr2:114643861-114644970	GM12878	blood:	n/a	n/a
48	ELF1	chr2:114643907-114644887	GM12878	blood:	n/a	chr2:114644289-114644302
49	YY1	chr2:114644612-114644961	GM12878	blood:	n/a	n/a
50	POLR2A	chr2:114643860-114645463	GM12892	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:114512907..114516219-chr2:114641764..114644786,3	K562	blood:
2	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
3	chr2:114511479..114519908-chr2:114641728..114650266,13	MCF-7	breast:
4	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: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10165272	1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs10167298	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10177263	0.92[ASN][1000 genomes]
rs10194568	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs10195630	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10201959	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10202134	0.92[ASN][1000 genomes]
rs10207551	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs10207785	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs10210324	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1022412	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11123218	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11887418	0.89[ASN][1000 genomes]
rs11887772	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11889821	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11890727	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11893418	0.92[ASN][1000 genomes]
rs11896388	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11898729	0.88[ASN][1000 genomes]
rs11899049	0.88[CHB][hapmap];0.80[ASN][1000 genomes]
rs12464791	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12466566	0.85[ASN][1000 genomes]
rs12466572	0.90[ASN][1000 genomes]
rs12613877	0.90[ASN][1000 genomes]
rs12618683	1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs12711790	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12711794	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13003655	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13387553	0.89[ASN][1000 genomes]
rs13388876	0.88[ASN][1000 genomes]
rs13396086	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13396561	0.88[ASN][1000 genomes]
rs13401311	0.85[ASN][1000 genomes]
rs13405344	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13418557	0.88[ASN][1000 genomes]
rs13422248	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1403402	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1467291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1486800	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1504042	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs17045275	0.88[ASN][1000 genomes]
rs1916201	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1984794	0.86[ASN][1000 genomes]
rs2140263	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs2419080	1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs28423681	0.85[ASN][1000 genomes]
rs3791737	0.94[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3791739	0.93[ASN][1000 genomes]
rs3791743	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4278937	1.00[ASN][1000 genomes]
rs4338971	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55685338	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55810358	0.92[ASN][1000 genomes]
rs6542177	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6542178	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6542181	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6542182	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6542184	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6542186	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6711858	0.93[ASN][1000 genomes]
rs6720853	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6723415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726327	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6729412	0.89[ASN][1000 genomes]
rs6734839	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6738134	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6740934	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6743651	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs6750503	0.88[ASN][1000 genomes]
rs6760347	0.86[ASN][1000 genomes]
rs6761646	1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs7567097	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7582072	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7585468	1.00[ASN][1000 genomes]
rs7595941	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7603501	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs7603764	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9308686	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs996513	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs996514	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs996515	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	chr2:114634200-114644800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:114634600-114645800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:114634600-114646000	Weak transcription	Brain Anterior Caudate	brain
5	chr2:114634600-114646200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:114635400-114646000	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:114635600-114645800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:114636800-114645400	Weak transcription	Fetal Intestine Large	intestine
9	chr2:114637800-114645800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:114638000-114645800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:114639000-114646600	Weak transcription	Ovary	ovary
12	chr2:114639800-114646800	Weak transcription	Gastric	stomach
13	chr2:114640000-114644800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:114642200-114646000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:114642200-114646600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:114642400-114645400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:114642400-114646000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr2:114642600-114646000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr2:114642800-114644800	Enhancers	Primary T cells from cord blood	blood
20	chr2:114642800-114646200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:114643000-114646400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:114643200-114645800	Enhancers	NHLF	lung
23	chr2:114643200-114646400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:114643200-114646400	Enhancers	Primary B cells from peripheral blood	blood
25	chr2:114643200-114646600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr2:114643200-114646600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:114643400-114646600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr2:114643600-114645600	Enhancers	Fetal Thymus	thymus
29	chr2:114643600-114646000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr2:114643800-114645000	Flanking Active TSS	Osteobl	bone
31	chr2:114643800-114645800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:114643800-114645800	Enhancers	HMEC	breast
33	chr2:114643800-114645800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr2:114643800-114646000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:114643800-114646200	Enhancers	Fetal Lung	lung
36	chr2:114643800-114646200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr2:114643800-114646400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:114643800-114646600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr2:114644000-114644800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:114644000-114644800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:114644000-114644800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:114644000-114644800	Enhancers	HUVEC	blood vessel
43	chr2:114644000-114644800	Flanking Active TSS	NH-A	brain
44	chr2:114644000-114645000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:114644000-114645000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:114644000-114645000	Enhancers	Dnd41	blood
47	chr2:114644000-114645200	Enhancers	Stomach Mucosa	stomach
48	chr2:114644000-114645200	Flanking Active TSS	HSMMtube	muscle
49	chr2:114644000-114645400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:114644000-114645400	Enhancers	Placenta	Placenta

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