Variant report

Variant	rs191746
Chromosome Location	chr1:165513116-165513117
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	MAX	chr1:165513040-165513434	ECC-1	luminal epithelium:	n/a	n/a
2	E2F6	chr1:165512975-165513411	H1-hESC	embryonic stem cell:	n/a	n/a
3	RFX5	chr1:165512889-165513291	H1-hESC	embryonic stem cell:	n/a	chr1:165513194-165513210
4	MAX	chr1:165513100-165513348	Hela-S3	cervix:	n/a	n/a
5	CREB1	chr1:165513006-165513369	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr1:165513092-165513364	H1-hESC	embryonic stem cell:	n/a	n/a
7	NFIC	chr1:165512557-165513530	ECC-1	luminal epithelium:	n/a	n/a
8	EBF1	chr1:165512930-165513265	GM12878	blood:	n/a	chr1:165513069-165513080 chr1:165513071-165513080
9	E2F6	chr1:165512812-165513462	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr1:165513032-165513371	H1-hESC	embryonic stem cell:	n/a	n/a
11	USF1	chr1:165513096-165513306	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr1:165513075-165513470	H1-hESC	embryonic stem cell:	n/a	chr1:165513224-165513234
13	SIN3AK20	chr1:165513009-165513368	H1-hESC	embryonic stem cell:	n/a	n/a
14	NFIC	chr1:165513009-165513554	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr1:165512824-165513487	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr1:165513032-165513396	ECC-1	luminal epithelium:	n/a	n/a
17	YY1	chr1:165513030-165513275	H1-hESC	embryonic stem cell:	n/a	n/a
18	USF2	chr1:165513077-165513329	H1-hESC	embryonic stem cell:	n/a	chr1:165513301-165513317
19	HDAC2	chr1:165512945-165513371	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr1:165512992-165513393	H1-hESC	embryonic stem cell:	n/a	n/a
21	USF1	chr1:165513033-165513390	H1-hESC	embryonic stem cell:	n/a	chr1:165513301-165513317
22	CHD2	chr1:165513091-165513359	H1-hESC	embryonic stem cell:	n/a	n/a
23	SP1	chr1:165512921-165513396	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr1:165512877-165513438	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000237463	TF binding region
LRRC52	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10494445	0.84[EUR][1000 genomes]
rs1326375	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1648111	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs166949	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16846549	0.81[AMR][1000 genomes]
rs16846612	0.81[AMR][1000 genomes]
rs16846621	0.81[AMR][1000 genomes]
rs184038	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs184039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs192586	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs192587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2254880	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2433131	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2433132	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2459240	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2485399	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2485400	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2485401	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2485408	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs285423	0.95[EUR][1000 genomes]
rs285424	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs285433	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs285434	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs285436	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs285437	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs285440	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs285441	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs285442	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs285443	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs285445	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs285447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs285449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs285450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs285451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs285452	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs285453	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs285454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs366124	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs369231	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs375780	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs385649	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs386186	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs390395	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs404612	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs415710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs421361	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs424313	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6426916	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6659141	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71485870	0.91[AFR][1000 genomes]
rs74118810	0.81[AMR][1000 genomes]
rs74120729	0.81[AMR][1000 genomes]
rs796570	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165511400-165513800	Enhancers	Fetal Lung	lung
2	chr1:165511400-165514200	Enhancers	Fetal Heart	heart
3	chr1:165512400-165513200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:165512400-165513400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:165512600-165514000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:165512800-165513200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:165512800-165513200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:165512800-165513200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:165512800-165513200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr1:165512800-165513200	Enhancers	Gastric	stomach
11	chr1:165512800-165513200	Enhancers	Ovary	ovary
12	chr1:165512800-165513600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:165512800-165513600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr1:165512800-165513600	Enhancers	Brain Germinal Matrix	brain
15	chr1:165512800-165513600	Enhancers	Fetal Brain Male	brain
16	chr1:165512800-165513600	Enhancers	Fetal Muscle Trunk	muscle
17	chr1:165512800-165513600	Enhancers	Fetal Muscle Leg	muscle
18	chr1:165512800-165513800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:165512800-165513800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:165512800-165513800	Enhancers	Brain Cingulate Gyrus	brain
21	chr1:165512800-165513800	Enhancers	Brain Hippocampus Middle	brain
22	chr1:165512800-165513800	Enhancers	Brain Substantia Nigra	brain
23	chr1:165512800-165513800	Enhancers	Pancreas	Pancrea
24	chr1:165512800-165513800	Enhancers	Psoas Muscle	Psoas
25	chr1:165512800-165514000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
26	chr1:165512800-165514000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr1:165512800-165514000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr1:165512800-165514000	Enhancers	Placenta	Placenta
29	chr1:165512800-165514000	Enhancers	Right Atrium	heart
30	chr1:165512800-165514200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr1:165512800-165514200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:165512800-165514200	Enhancers	Left Ventricle	heart
33	chr1:165512800-165514200	Enhancers	Right Ventricle	heart
34	chr1:165512800-165514200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr1:165512800-165514400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr1:165513000-165513200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr1:165513000-165513200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr1:165513000-165513200	Enhancers	Colonic Mucosa	Colon
39	chr1:165513000-165513200	Enhancers	Stomach Mucosa	stomach
40	chr1:165513000-165513200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
41	chr1:165513000-165513400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:165513000-165513400	Enhancers	Liver	Liver
43	chr1:165513000-165513400	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr1:165513000-165513400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr1:165513000-165513400	Bivalent Enhancer	Fetal Stomach	stomach
46	chr1:165513000-165513400	Enhancers	Lung	lung
47	chr1:165513000-165513600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:165513000-165513800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
49	chr1:165513000-165513800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr1:165513000-165513800	Enhancers	Brain Angular Gyrus	brain

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