Variant report

Variant	rs6710118
Chromosome Location	chr2:38875645-38875646
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:38825926..38832179-chr2:38868147..38876106,18	K562	blood:

Variant related genes	Relation type
ENSG00000235586	Chromatin interaction
ENSG00000143889	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10495880	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12987111	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12990659	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12991911	0.89[EUR][1000 genomes]
rs12995222	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12996029	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13009689	0.83[EUR][1000 genomes]
rs1540436	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17421743	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17493573	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17493839	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1864829	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1864830	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34462852	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34533895	0.90[EUR][1000 genomes]
rs34688430	0.96[ASN][1000 genomes]
rs34821677	0.96[ASN][1000 genomes]
rs35151237	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35219064	0.90[EUR][1000 genomes]
rs35378647	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35492507	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35581112	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35679136	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35734673	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35869291	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4268910	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4536633	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55948796	0.96[ASN][1000 genomes]
rs56208611	0.98[ASN][1000 genomes]
rs6704829	0.98[ASN][1000 genomes]
rs6722560	1.00[ASN][1000 genomes]
rs6731029	0.98[ASN][1000 genomes]
rs6733848	0.98[ASN][1000 genomes]
rs6749343	0.84[EUR][1000 genomes]
rs6750764	1.00[ASN][1000 genomes]
rs72905865	0.82[ASN][1000 genomes]
rs72907903	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv873882	chr2:38858669-38921498	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv2762495	chr2:38861095-38886391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv3457549	chr2:38871768-38882574	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3457553	chr2:38871805-38882546	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3457551	chr2:38871805-38882561	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3457550	chr2:38871849-38882546	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv14023	chr2:38871950-38882521	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv442713	chr2:38873799-38876600	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv2421758	chr2:38873799-38881106	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv2760617	chr2:38873799-38886391	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv516043	chr2:38874177-38881106	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv817740	chr2:38874177-38881106	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38870800-38877800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:38870800-38881600	Weak transcription	Spleen	Spleen
3	chr2:38871200-38880800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:38873200-38879600	Enhancers	K562	blood
5	chr2:38873400-38878400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:38874600-38880800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:38875000-38875800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:38875000-38875800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr2:38875000-38875800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:38875000-38875800	Enhancers	Hela-S3	cervix
11	chr2:38875000-38875800	Enhancers	HMEC	breast
12	chr2:38875000-38876000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr2:38875000-38876000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:38875000-38876000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:38875000-38876000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr2:38875000-38876000	Enhancers	Fetal Thymus	thymus
17	chr2:38875000-38876200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:38875000-38876200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:38875000-38876200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr2:38875000-38876400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
21	chr2:38875000-38877600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
22	chr2:38875200-38875800	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:38875200-38875800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr2:38875200-38875800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:38875200-38876000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:38875200-38876000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:38875200-38876000	Flanking Active TSS	Dnd41	blood
28	chr2:38875200-38876400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr2:38875200-38876400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:38875200-38876600	Enhancers	Placenta	Placenta
31	chr2:38875400-38876000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:38875600-38875800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:38875600-38875800	Weak transcription	Thymus	Thymus
34	chr2:38875600-38876000	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr2:38875600-38880600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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