Variant report

Variant	rs11716415
Chromosome Location	chr3:133349465-133349466
allele	A/G
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	chr3:133349436-133349505	Hela-S3	cervix:	n/a	n/a
2	FOSL2	chr3:133349162-133349586	A549	lung:	n/a	n/a
3	FOS	chr3:133349354-133349554	MCF10A-Er-Src	breast:	n/a	n/a
4	FOSL1	chr3:133349203-133349754	HCT-116	colon:	n/a	n/a
5	ZNF384	chr3:133349407-133349555	K562	blood:	n/a	n/a
6	FOS	chr3:133349334-133349534	MCF10A-Er-Src	breast:	n/a	n/a
7	FOSL1	chr3:133349173-133349775	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:133301247..133303187-chr3:133347814..133350615,2	K562	blood:
2	chr3:133348150..133350073-chr3:133376883..133378735,2	K562	blood:
3	chr3:133348823..133351307-chr3:133355431..133357068,2	K562	blood:

Variant related genes	Relation type
TOPBP1	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10512903	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512904	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512907	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512908	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512909	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706413	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706586	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706809	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11707750	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11708197	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11708532	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11708565	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709132	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709349	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709404	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709461	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11709940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710717	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11711706	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11712186	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11712672	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713205	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713248	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714392	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714422	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715407	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715435	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717424	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717902	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718050	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718234	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718255	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719366	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719585	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719687	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720825	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17301253	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17301521	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17301766	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17301889	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17373504	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17373726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2718801	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55729127	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55741097	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56040719	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56292037	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56323915	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282385	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62282388	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282389	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282390	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282392	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282415	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282417	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282420	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282421	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282424	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282425	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282427	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282428	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282429	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282431	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282451	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282452	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282453	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282454	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282456	0.82[EUR][1000 genomes]
rs7349558	0.87[EUR][1000 genomes]
rs7630957	0.80[EUR][1000 genomes]
rs7650725	0.82[EUR][1000 genomes]
rs7653808	0.82[EUR][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133308200-133356000	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:133308600-133351600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:133308600-133352200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:133314800-133351600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:133316600-133377600	Strong transcription	Dnd41	blood
6	chr3:133316600-133378000	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr3:133317000-133378200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr3:133317200-133378800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:133318400-133378600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:133319000-133363800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:133322200-133378200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:133322600-133378800	Weak transcription	Stomach Mucosa	stomach
13	chr3:133323200-133378200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:133323200-133378400	Strong transcription	Fetal Thymus	thymus
15	chr3:133323200-133378800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:133323400-133378200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:133323600-133377800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr3:133323800-133378800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:133324200-133378200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:133325200-133352800	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:133325200-133353000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:133327000-133362400	Weak transcription	Small Intestine	intestine
23	chr3:133327600-133351600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:133328000-133356400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr3:133329200-133358400	Weak transcription	Fetal Heart	heart
26	chr3:133329400-133358200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:133331200-133352000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:133332200-133378600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:133333400-133378000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr3:133334000-133359200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:133334200-133378400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:133334400-133368800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr3:133334600-133352800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:133334600-133363200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:133334800-133354400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:133334800-133367200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:133335200-133353000	Strong transcription	Placenta	Placenta
38	chr3:133335600-133350600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:133336200-133349800	Weak transcription	NHLF	lung
40	chr3:133336400-133351400	Weak transcription	HSMMtube	muscle
41	chr3:133336600-133349800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr3:133337400-133351600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:133337400-133380000	Weak transcription	Pancreas	Pancrea
44	chr3:133338400-133359000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr3:133338600-133350000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr3:133338600-133352800	Strong transcription	Fetal Muscle Leg	muscle
47	chr3:133338600-133368600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr3:133338800-133363400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:133339400-133349800	Weak transcription	Lung	lung
50	chr3:133339600-133356200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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