Variant report

Variant	rs62439764
Chromosome Location	chr6:161100512-161100513
allele	C/T
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	CTCF	chr6:161100460-161100781	K562	blood:	n/a	chr6:161100643-161100661
2	CTCF	chr6:161100410-161100832	HepG2	liver:	n/a	chr6:161100643-161100661
3	MAX	chr6:161100448-161100711	K562	blood:	n/a	n/a
4	CTCF	chr6:161100432-161100747	H1-hESC	embryonic stem cell:	n/a	chr6:161100643-161100661
5	RAD21	chr6:161100405-161100740	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr6:161100442-161100741	HepG2	liver:	n/a	n/a
7	CTCF	chr6:161100500-161100650	A549	lung:	n/a	n/a
8	CTCF	chr6:161100506-161100746	K562	blood:	n/a	chr6:161100643-161100661
9	CTCF	chr6:161100494-161100724	HepG2	liver:	n/a	chr6:161100643-161100661
10	CTCF	chr6:161100477-161100720	H1-hESC	embryonic stem cell:	n/a	chr6:161100643-161100661
11	RAD21	chr6:161100502-161100724	HepG2	liver:	n/a	n/a
12	RAD21	chr6:161100414-161100728	HepG2	liver:	n/a	n/a
13	EP300	chr6:161100494-161100552	HepG2	liver:	n/a	n/a
14	RAD21	chr6:161100436-161100732	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr6:161100488-161100799	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr6:161100500-161100650	GM12872	blood:	n/a	n/a
17	RAD21	chr6:161100477-161100734	K562	blood:	n/a	n/a
18	CTCF	chr6:161100512-161100699	K562	blood:	n/a	chr6:161100643-161100661
19	YY1	chr6:161100387-161100706	HepG2	liver:	n/a	n/a
20	CTCF	chr6:161100500-161100650	HFF-Myc	foreskin:	n/a	n/a
21	ZNF143	chr6:161100492-161100719	H1-hESC	embryonic stem cell:	n/a	chr6:161100677-161100696

Variant related genes	Relation type
ENSG00000243831	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12174589	0.92[ASN][1000 genomes]
rs1406888	0.81[AMR][1000 genomes]
rs1590183	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1897106	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2314852	0.87[ASN][1000 genomes]
rs4110432	0.85[ASN][1000 genomes]
rs4252050	0.86[ASN][1000 genomes]
rs60171130	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60553356	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6455698	0.88[ASN][1000 genomes]
rs6935921	0.84[ASN][1000 genomes]
rs783144	0.88[ASN][1000 genomes]
rs9457995	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv605005	chr6:161069941-161152449	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161099400-161100600	Flanking Active TSS	Liver	Liver
2	chr6:161099600-161100800	Bivalent Enhancer	NHEK	skin
3	chr6:161099800-161100600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:161099800-161100600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:161099800-161100600	Flanking Active TSS	Esophagus	oesophagus
6	chr6:161099800-161100800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:161100000-161100600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:161100000-161100600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr6:161100000-161100600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:161100000-161100600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr6:161100000-161100600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:161100000-161100600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:161100000-161100600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:161100000-161100600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr6:161100000-161100600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:161100000-161100600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
17	chr6:161100000-161100600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:161100000-161100600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:161100000-161100600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
20	chr6:161100000-161100600	Bivalent Enhancer	Placenta	Placenta
21	chr6:161100000-161100600	Flanking Active TSS	Pancreas	Pancrea
22	chr6:161100000-161100800	Bivalent/Poised TSS	Fetal Brain Female	brain
23	chr6:161100200-161100600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:161100200-161100600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:161100200-161100600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:161100200-161100600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:161100200-161100600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr6:161100200-161100600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:161100200-161100600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:161100200-161100600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
31	chr6:161100200-161100600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr6:161100200-161100600	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr6:161100200-161100600	Bivalent Enhancer	Fetal Stomach	stomach
34	chr6:161100200-161100600	Enhancers	Ovary	ovary
35	chr6:161100200-161100600	Genic enhancers	Right Atrium	heart
36	chr6:161100200-161100600	Bivalent Enhancer	Right Ventricle	heart
37	chr6:161100200-161100600	Active TSS	Stomach Smooth Muscle	stomach
38	chr6:161100200-161100800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
39	chr6:161100400-161100600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:161100400-161100600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:161100400-161100600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
42	chr6:161100400-161100600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
43	chr6:161100400-161100600	Enhancers	Gastric	stomach
44	chr6:161100400-161100800	Active TSS	HepG2	liver

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