Variant report

Variant	rs6665237
Chromosome Location	chr1:165325493-165325494
allele	A/C
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	CTBP2	chr1:165322985-165326544	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr1:165321480-165326928	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr1:165320994-165326901	NT2-D1	testis:	n/a	n/a
4	SIN3A	chr1:165325476-165326555	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr1:165325380-165325530	AG09319	gingival:	n/a	n/a
6	RAD21	chr1:165325478-165325587	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
LMX1A	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1123821	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12125353	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12126669	0.83[EUR][1000 genomes]
rs12136025	0.86[AMR][1000 genomes]
rs12136601	0.84[AMR][1000 genomes]
rs13374068	0.83[EUR][1000 genomes]
rs1948743	0.83[EUR][1000 genomes]
rs1974080	0.83[EUR][1000 genomes]
rs2225185	0.83[EUR][1000 genomes]
rs28502486	0.86[AMR][1000 genomes]
rs56375656	0.86[AMR][1000 genomes]
rs6665572	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6686310	0.83[EUR][1000 genomes]
rs66911579	0.83[EUR][1000 genomes]
rs6693619	0.83[EUR][1000 genomes]
rs67130162	0.83[EUR][1000 genomes]
rs7538365	0.83[EUR][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	esv3400389	chr1:165325128-165326976	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165321200-165326400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:165321400-165326600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr1:165321600-165326000	Enhancers	Pancreas	Pancrea
4	chr1:165322800-165326400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:165323200-165325600	Bivalent Enhancer	Left Ventricle	heart
6	chr1:165323200-165326000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:165323400-165326000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:165323400-165326200	Bivalent Enhancer	Fetal Brain Male	brain
9	chr1:165323400-165326400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr1:165323600-165326600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:165323800-165326400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:165324000-165325600	Bivalent Enhancer	Fetal Heart	heart
13	chr1:165324000-165325800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr1:165324200-165325600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr1:165324200-165325600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:165324200-165325600	Bivalent Enhancer	Spleen	Spleen
17	chr1:165324200-165326000	Bivalent Enhancer	Placenta	Placenta
18	chr1:165324200-165326400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:165324400-165325800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:165324600-165325600	Bivalent Enhancer	HMEC	breast
21	chr1:165324600-165325800	Bivalent Enhancer	Lung	lung
22	chr1:165324600-165326000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
23	chr1:165324600-165326000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr1:165324600-165326200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:165324600-165326200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
26	chr1:165324600-165326400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr1:165324800-165326000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
28	chr1:165325000-165325600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:165325000-165325600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr1:165325000-165325600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
31	chr1:165325000-165325600	Bivalent/Poised TSS	Fetal Brain Female	brain
32	chr1:165325000-165325600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr1:165325000-165325600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
34	chr1:165325000-165325800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
35	chr1:165325000-165325800	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr1:165325000-165326000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
37	chr1:165325000-165326000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
38	chr1:165325000-165326400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr1:165325000-165326600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr1:165325200-165325600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:165325200-165325600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr1:165325200-165325800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:165325200-165325800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
44	chr1:165325200-165325800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
45	chr1:165325200-165325800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
46	chr1:165325200-165325800	Bivalent/Poised TSS	Esophagus	oesophagus
47	chr1:165325200-165325800	Bivalent Enhancer	Small Intestine	intestine
48	chr1:165325200-165326000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:165325200-165326000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
50	chr1:165325200-165326000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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