Variant report

Variant	rs10305417
Chromosome Location	chr6:39016282-39016283
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr6:39016248-39016877	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr6:39016168-39016832	H1-hESC	embryonic stem cell:	n/a	chr6:39016568-39016575
3	MAX	chr6:39016274-39016805	H1-hESC	embryonic stem cell:	n/a	chr6:39016568-39016575
4	CTBP2	chr6:39016260-39017332	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:39016262-39016312	PrEC	prostate:	n/a
2	chr6:39016262-39016312	NT2-D1	testis:	n/a
3	chr6:39016262-39016312	GM19239	blood:	n/a
4	chr6:39016262-39016312	HCT-116	colon:	n/a
5	chr6:39016262-39016312	HIPEpiC	eye:	n/a
6	chr6:39016262-39016312	MCF-7	breast:	n/a
7	chr6:39016262-39016312	RPTEC	kidney:	n/a
8	chr6:39016262-39016312	HRPEpiC	eye:	n/a
9	chr6:39016262-39016312	SK-N-SH	brain:	n/a
10	chr6:39016262-39016312	HRCEpiC	kidney:	n/a
11	chr6:39016262-39016312	ECC-1	luminal epithelium:	n/a
12	chr6:39016262-39016312	HEK293	kidney:	embryo
13	chr6:39016262-39016312	Hepatocyte	liver:	n/a
14	chr6:39016262-39016312	HCF	heart:	n/a
15	chr6:39016262-39016312	GM12878	blood:	n/a
16	chr6:39016262-39016312	K562	blood:	n/a
17	chr6:39016262-39016312	U87	brain:	n/a
18	chr6:39016262-39016312	Hela-S3	cervix:	n/a
19	chr6:39016262-39016312	IMR90	lung:	fetal
20	chr6:39016262-39016312	CMK	blood:	n/a
21	chr6:39016262-39016312	AG04449	skin:	fetal
22	chr6:39016262-39016312	HUVEC	blood vessel:	n/a
23	chr6:39016262-39016312	NB4	blood:	n/a
24	chr6:39016262-39016312	ovcar-3	ovarian:	n/a
25	chr6:39016262-39016312	SK-N-SH_RA	brain:	n/a
26	chr6:39016262-39016312	HNPCEpiC	eye:	n/a
27	chr6:39016262-39016312	Caco-2	colon:	n/a
28	chr6:39016262-39016312	AG10803	skin:	n/a
29	chr6:39016262-39016312	BJ	skin:	n/a
30	chr6:39016262-39016312	SAEC	small airway:	n/a
31	chr6:39016262-39016312	AG04450	lung:	fetal
32	chr6:39016262-39016312	HAEpiC	amniotic membrane:	n/a
33	chr6:39016262-39016312	HPAEpiC	pulmonary alveolar:	n/a
34	chr6:39016262-39016312	HCM	heart:	n/a
35	chr6:39016262-39016312	AoSMC	blood vessel:	n/a
36	chr6:39016262-39016312	GM06990	blood:	n/a
37	chr6:39016262-39016312	BE2_C	brain:	n/a
38	chr6:39016262-39016312	AG09319	gingival:	n/a
39	chr6:39016262-39016312	HMEC	breast:	n/a
40	chr6:39016262-39016312	GM12891	blood:	n/a
41	chr6:39016262-39016312	SKMC	muscle:	n/a
42	chr6:39016262-39016312	HRE	kidney:	n/a
43	chr6:39016262-39016312	T-47D	breast:	n/a
44	chr6:39016262-39016312	LNCaP	prostate:	n/a
45	chr6:39016262-39016312	NHDF-neo	bronchial:	n/a
46	chr6:39016262-39016312	HCPEpiC	choroid plexus:	n/a
47	chr6:39016262-39016312	HEEpiC	esophagus:	n/a
48	chr6:39016262-39016312	GM12892	blood:	n/a
49	chr6:39016262-39016312	NH-A	brain:	n/a
50	chr6:39016262-39016312	NHBE	bronchial:	n/a

No data

Variant related genes	Relation type
GLP1R	TF binding region
GLP1R	CpG island

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10305519	1.00[EUR][1000 genomes]
rs41376545	1.00[EUR][1000 genomes]
rs55643263	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55650855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55714548	1.00[EUR][1000 genomes]
rs56113843	1.00[EUR][1000 genomes]
rs56765616	0.94[AFR][1000 genomes]
rs57188158	1.00[EUR][1000 genomes]
rs58092834	1.00[EUR][1000 genomes]
rs59648883	1.00[EUR][1000 genomes]
rs60160720	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60702678	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61232244	1.00[EUR][1000 genomes]
rs73410586	1.00[EUR][1000 genomes]
rs73410602	1.00[EUR][1000 genomes]
rs73412406	1.00[EUR][1000 genomes]
rs73412421	1.00[EUR][1000 genomes]
rs73412424	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73412493	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73414403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73426190	1.00[EUR][1000 genomes]
rs73428116	1.00[EUR][1000 genomes]
rs7739218	1.00[EUR][1000 genomes]
rs7756833	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv885821	chr6:38843970-39039503	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv948357	chr6:38920998-39035836	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1027064	chr6:38984374-39034516	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1801734	chr6:38986164-39034484	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39012200-39017800	Weak transcription	HMEC	breast
2	chr6:39015800-39017400	Enhancers	Fetal Heart	heart
3	chr6:39015800-39017600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:39015800-39017600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:39015800-39017600	Flanking Bivalent TSS/Enh	Dnd41	blood
6	chr6:39016000-39016400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
7	chr6:39016000-39016400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:39016000-39016400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
9	chr6:39016000-39016400	Flanking Active TSS	Pancreas	Pancrea
10	chr6:39016000-39016400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
11	chr6:39016000-39016600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:39016000-39016600	Active TSS	Right Ventricle	heart
13	chr6:39016000-39016800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
14	chr6:39016000-39016800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:39016000-39017000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:39016000-39017000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
17	chr6:39016000-39017000	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr6:39016000-39017000	Enhancers	Spleen	Spleen
19	chr6:39016000-39017200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:39016000-39017400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr6:39016000-39017600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr6:39016000-39020000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr6:39016200-39016400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:39016200-39016400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:39016200-39016400	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
26	chr6:39016200-39016400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr6:39016200-39016400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:39016200-39016400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:39016200-39016400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:39016200-39016400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:39016200-39016400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
32	chr6:39016200-39016400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
33	chr6:39016200-39016400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr6:39016200-39016600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr6:39016200-39016600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:39016200-39016600	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr6:39016200-39016600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr6:39016200-39016800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:39016200-39016800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:39016200-39016800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr6:39016200-39016800	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
42	chr6:39016200-39016800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
43	chr6:39016200-39016800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:39016200-39016800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
45	chr6:39016200-39016800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr6:39016200-39017000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr6:39016200-39017000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr6:39016200-39017000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:39016200-39017000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:39016200-39017000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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