Variant report

Variant	rs68176600
Chromosome Location	chr12:57618419-57618420
allele	A/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	E2F6	chr12:57618393-57619760	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr12:57618406-57619893	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr12:57618300-57618450	GM12869	blood:	n/a	n/a
4	CTCF	chr12:57618392-57619043	H1-hESC	embryonic stem cell:	n/a	chr12:57618529-57618542
5	YY1	chr12:57618321-57619069	H1-hESC	embryonic stem cell:	n/a	chr12:57618601-57618620
6	CTCF	chr12:57618280-57618430	GM12872	blood:	n/a	n/a
7	RAD21	chr12:57618411-57619062	H1-hESC	embryonic stem cell:	n/a	chr12:57618528-57618541
8	CTCF	chr12:57618380-57618530	GM06990	blood:	n/a	n/a
9	CTCF	chr12:57618380-57618530	HRPEpiC	eye:	n/a	n/a
10	MAX	chr12:57618390-57619602	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57583820..57586424-chr12:57618362..57620239,2	K562	blood:
2	chr12:57481223..57482967-chr12:57618329..57620140,2	K562	blood:

Variant related genes	Relation type
ENSG00000202067	TF binding region
SHMT2	TF binding region
ENSG00000166886	Chromatin interaction
ENSG00000166881	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10783815	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10783816	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800162	0.82[EUR][1000 genomes]
rs1800164	0.84[EUR][1000 genomes]
rs7301155	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7489231	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7956957	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1796377	chr12:57577246-57638936	Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv1809338	chr12:57580227-57628338	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv1827692	chr12:57582852-57651345	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv519293	chr12:57583672-57637593	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv899116	chr12:57597169-57623363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 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	chr12:57611400-57623000	Weak transcription	Right Atrium	heart
2	chr12:57613200-57621800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:57613400-57620400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr12:57613400-57621600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr12:57613800-57620000	Bivalent Enhancer	Primary B cells from cord blood	blood
6	chr12:57614000-57618800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr12:57615000-57622800	Weak transcription	A549	lung
8	chr12:57615400-57618800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:57617200-57621400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr12:57617600-57620200	Weak transcription	K562	blood
11	chr12:57618000-57618800	Bivalent Enhancer	HepG2	liver
12	chr12:57618000-57619600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:57618200-57618600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:57618200-57618800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr12:57618200-57619200	Bivalent Enhancer	NH-A	brain
16	chr12:57618200-57619800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:57618200-57619800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
18	chr12:57618200-57620600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
19	chr12:57618200-57621200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr12:57618200-57621800	Bivalent Enhancer	Fetal Thymus	thymus
21	chr12:57618400-57618600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
22	chr12:57618400-57618600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:57618400-57618600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr12:57618400-57618600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
25	chr12:57618400-57618600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
26	chr12:57618400-57618600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:57618400-57618600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:57618400-57618800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
29	chr12:57618400-57618800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
30	chr12:57618400-57618800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:57618400-57618800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
32	chr12:57618400-57619000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:57618400-57619000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:57618400-57619000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
35	chr12:57618400-57619000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
36	chr12:57618400-57619600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr12:57618400-57619800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:57618400-57620000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:57618400-57620600	Enhancers	Pancreas	Pancrea
40	chr12:57618400-57620600	Enhancers	Spleen	Spleen
41	chr12:57618400-57620800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
42	chr12:57618400-57620800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
43	chr12:57618400-57621000	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr12:57618400-57621600	Bivalent Enhancer	Fetal Stomach	stomach

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