Variant report

Variant	rs3767712
Chromosome Location	chr1:223958809-223958810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223898558..223902080-chr1:223957242..223958839,3	K562	blood:
2	chr1:223957411..223959662-chr1:224032167..224034658,2	MCF-7	breast:
3	chr1:223898558..223902031-chr1:223957339..223960421,3	K562	blood:
4	chr1:223958219..223959890-chr1:224031249..224033872,2	K562	blood:
5	chr1:223950388..223952525-chr1:223958515..223960018,2	K562	blood:

Variant related genes	Relation type
ENSG00000143514	Chromatin interaction
ENSG00000162909	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12022914	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs12022920	0.88[CHB][hapmap];0.88[ASN][1000 genomes]
rs12024059	0.88[ASN][1000 genomes]
rs12026548	0.91[CHB][hapmap];0.93[ASN][1000 genomes]
rs12027762	0.91[CHB][hapmap]
rs12028843	0.88[ASN][1000 genomes]
rs12031859	0.88[ASN][1000 genomes]
rs12034120	0.86[ASN][1000 genomes]
rs12034914	0.86[ASN][1000 genomes]
rs12035506	0.81[ASN][1000 genomes]
rs12036717	0.86[ASN][1000 genomes]
rs12038665	0.88[ASN][1000 genomes]
rs12038706	0.86[ASN][1000 genomes]
rs12039721	0.86[ASN][1000 genomes]
rs12040996	0.86[ASN][1000 genomes]
rs12043790	0.93[ASN][1000 genomes]
rs12044358	0.93[ASN][1000 genomes]
rs12044652	0.86[ASN][1000 genomes]
rs12044659	0.86[ASN][1000 genomes]
rs12047342	0.86[ASN][1000 genomes]
rs1542507	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs16842259	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs28370095	0.86[ASN][1000 genomes]
rs28370112	0.86[ASN][1000 genomes]
rs28370115	0.86[ASN][1000 genomes]
rs28370160	0.90[ASN][1000 genomes]
rs28370166	0.93[ASN][1000 genomes]
rs28370174	0.93[ASN][1000 genomes]
rs28370177	0.91[CHB][hapmap];0.93[ASN][1000 genomes]
rs28370178	0.93[ASN][1000 genomes]
rs3754088	0.86[ASN][1000 genomes]
rs3767710	0.93[ASN][1000 genomes]
rs3767713	0.86[ASN][1000 genomes]
rs3820474	0.88[ASN][1000 genomes]
rs3820481	0.89[CHB][hapmap];0.86[ASN][1000 genomes]
rs61437308	0.88[ASN][1000 genomes]
rs747811	0.93[ASN][1000 genomes]
rs7538151	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs9804140	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs9970756	1.00[CHB][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223937000-223959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:223937000-223960000	Weak transcription	Thymus	Thymus
3	chr1:223941000-223959400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:223941200-223961600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:223954400-223961800	Weak transcription	HepG2	liver
6	chr1:223954800-223964000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:223956600-223959000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:223956600-223959000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:223956600-223959000	Strong transcription	Brain Anterior Caudate	brain
10	chr1:223956600-223959000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr1:223956600-223959200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:223956600-223959200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:223956600-223959200	Strong transcription	Fetal Kidney	kidney
14	chr1:223956600-223959200	Strong transcription	Fetal Lung	lung
15	chr1:223956600-223959400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:223956600-223959400	Strong transcription	Rectal Smooth Muscle	rectum
17	chr1:223956600-223960000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:223956600-223960400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:223956600-223960800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:223956600-223962800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:223956600-223963400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:223956600-223963600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:223956600-223963600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:223956600-223963800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr1:223956600-223967000	Strong transcription	Lung	lung
26	chr1:223956600-223967200	Strong transcription	Colonic Mucosa	Colon
27	chr1:223956600-223968400	Strong transcription	Fetal Brain Female	brain
28	chr1:223956600-223969000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:223956600-223969000	Strong transcription	Fetal Stomach	stomach
30	chr1:223956600-224004600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr1:223956600-224004600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr1:223956800-223959000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:223956800-223959200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:223956800-223959600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:223956800-223963000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:223956800-223963200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr1:223956800-223969000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:223956800-223969200	Strong transcription	Placenta	Placenta
39	chr1:223956800-223974200	Strong transcription	Primary T cells from cord blood	blood
40	chr1:223956800-223974200	Strong transcription	Liver	Liver
41	chr1:223957000-223959000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:223957000-223962400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:223957000-223964000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:223957000-223983400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:223957200-223959000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:223957200-223959000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:223957200-223959000	Genic enhancers	NHEK	skin
48	chr1:223957200-223959200	Genic enhancers	HSMMtube	muscle
49	chr1:223957200-223959400	Genic enhancers	HUVEC	blood vessel
50	chr1:223957200-223965000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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