Variant report

Variant	rs60682494
Chromosome Location	chr3:119011799-119011800
allele	C/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	RUNX3	chr3:119011436-119011851	GM12878	blood:	n/a	n/a
2	RUNX3	chr3:119011462-119011866	GM12878	blood:	n/a	n/a
3	E2F6	chr3:119011433-119011885	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:119011699..119014378-chr3:119015999..119019083,3	MCF-7	breast:
2	chr3:119009764..119012007-chr3:119036606..119039583,2	MCF-7	breast:
3	chr3:119011662..119015799-chr3:119040784..119043293,4	MCF-7	breast:

Variant related genes	Relation type
ARHGAP31	TF binding region
ENSG00000242829	Chromatin interaction
ENSG00000241155	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16829666	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4687992	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56327634	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57973376	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59960682	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs60762206	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72956771	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72956776	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72960606	0.97[AFR][1000 genomes]
rs72960608	0.98[AFR][1000 genomes];0.88[AMR][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119007800-119012400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:119008600-119011800	Weak transcription	Placenta	Placenta
3	chr3:119008800-119012000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:119008800-119012600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:119008800-119012600	Weak transcription	Esophagus	oesophagus
6	chr3:119008800-119012800	Weak transcription	Spleen	Spleen
7	chr3:119009000-119011800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:119009000-119012000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr3:119010200-119012200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:119010400-119012400	Weak transcription	Fetal Intestine Large	intestine
11	chr3:119011000-119011800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr3:119011000-119012000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:119011000-119012000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr3:119011000-119012200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr3:119011000-119012200	Enhancers	Fetal Thymus	thymus
16	chr3:119011200-119011800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr3:119011200-119011800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:119011200-119011800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr3:119011200-119011800	Enhancers	Thymus	Thymus
20	chr3:119011200-119011800	Bivalent Enhancer	Dnd41	blood
21	chr3:119011200-119011800	Enhancers	GM12878-XiMat	blood
22	chr3:119011200-119012000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr3:119011200-119012000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr3:119011200-119012000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:119011200-119012000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:119011200-119012200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
27	chr3:119011200-119012400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr3:119011200-119012400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
29	chr3:119011200-119012400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr3:119011200-119012400	Enhancers	Colon Smooth Muscle	Colon
31	chr3:119011400-119011800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:119011400-119012000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:119011400-119012000	Enhancers	Lung	lung
34	chr3:119011400-119012200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:119011400-119012200	Enhancers	Adipose Nuclei	Adipose
36	chr3:119011400-119012200	Enhancers	Right Ventricle	heart
37	chr3:119011400-119012400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr3:119011400-119012400	Enhancers	Primary B cells from peripheral blood	blood
39	chr3:119011400-119012400	Enhancers	Brain Hippocampus Middle	brain
40	chr3:119011400-119012400	Enhancers	Fetal Lung	lung
41	chr3:119011400-119012400	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr3:119011400-119012400	Enhancers	HUVEC	blood vessel
43	chr3:119011400-119012600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:119011400-119012600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:119011400-119012600	Bivalent Enhancer	HepG2	liver
46	chr3:119011400-119012800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr3:119011600-119011800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:119011600-119012200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
49	chr3:119011600-119012200	Enhancers	Primary B cells from cord blood	blood
50	chr3:119011600-119012200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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