Variant report

Variant	rs61736007
Chromosome Location	chr12:57618619-57618620
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	CTBP2	chr12:57618569-57619035	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr12:57618393-57619760	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr12:57618600-57618750	A549	lung:	n/a	n/a
4	USF2	chr12:57618608-57618984	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:57618560-57618710	GM12870	blood:	n/a	n/a
6	RAD21	chr12:57618582-57618994	H1-hESC	embryonic stem cell:	n/a	n/a
7	TBP	chr12:57618496-57618940	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr12:57618500-57618650	GM12864	blood:	n/a	chr12:57618529-57618542
9	ATF2	chr12:57618573-57619044	H1-hESC	embryonic stem cell:	n/a	n/a
10	SP4	chr12:57618604-57619002	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr12:57618406-57619893	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3A	chr12:57618511-57619025	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr12:57618480-57618630	HAc	cerebellar:	n/a	chr12:57618529-57618542
14	CTCF	chr12:57618539-57619045	HepG2	liver:	n/a	n/a
15	MYC	chr12:57618595-57618921	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF143	chr12:57618566-57619047	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr12:57618478-57619061	H1-hESC	embryonic stem cell:	n/a	chr12:57618529-57618542
18	CTCF	chr12:57618392-57619043	H1-hESC	embryonic stem cell:	n/a	chr12:57618529-57618542
19	CTCF	chr12:57618500-57618650	AG10803	skin:	n/a	chr12:57618529-57618542
20	GABPA	chr12:57618553-57618963	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr12:57618503-57618630	H1-hESC	embryonic stem cell:	n/a	chr12:57618529-57618542
22	BACH1	chr12:57618534-57618945	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr12:57618480-57618630	HPF	lung:	n/a	chr12:57618529-57618542
24	ELF1	chr12:57618541-57618956	HepG2	liver:	n/a	n/a
25	RAD21	chr12:57618587-57618910	HepG2	liver:	n/a	n/a
26	TAF7	chr12:57618563-57618996	H1-hESC	embryonic stem cell:	n/a	n/a
27	YY1	chr12:57618321-57619069	H1-hESC	embryonic stem cell:	n/a	chr12:57618601-57618620
28	JUND	chr12:57618562-57618997	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr12:57618452-57619615	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr12:57618411-57619062	H1-hESC	embryonic stem cell:	n/a	chr12:57618528-57618541
31	CTCF	chr12:57618579-57618971	HepG2	liver:	n/a	n/a
32	YY1	chr12:57618533-57619005	H1-hESC	embryonic stem cell:	n/a	chr12:57618601-57618620
33	GABPA	chr12:57618474-57619009	H1-hESC	embryonic stem cell:	n/a	chr12:57618527-57618536
34	ELF1	chr12:57618441-57619223	GM12878	blood:	n/a	n/a
35	RAD21	chr12:57618604-57619019	H1-hESC	embryonic stem cell:	n/a	n/a
36	FOXM1	chr12:57618612-57619024	GM12878	blood:	n/a	n/a
37	RAD21	chr12:57618611-57618954	HepG2	liver:	n/a	n/a
38	MAX	chr12:57618390-57619602	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57583820..57586424-chr12:57618362..57620239,2	K562	blood:
2	chr12:57618582..57621121-chr12:57939441..57941129,2	K562	blood:
3	chr12:57481223..57482967-chr12:57618329..57620140,2	K562	blood:

Variant related genes	Relation type
ENSG00000202067	TF binding region
SHMT2	TF binding region
ENSG00000175203	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000166886	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11172124	0.82[EUR][1000 genomes]
rs11612551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615783	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73120022	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7485577	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][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:53 , 50 per page) page: 1 2

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	chr12:57618200-57618800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
14	chr12:57618200-57619200	Bivalent Enhancer	NH-A	brain
15	chr12:57618200-57619800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:57618200-57619800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
17	chr12:57618200-57620600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
18	chr12:57618200-57621200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr12:57618200-57621800	Bivalent Enhancer	Fetal Thymus	thymus
20	chr12:57618400-57618800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
21	chr12:57618400-57618800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr12:57618400-57618800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:57618400-57618800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
24	chr12:57618400-57619000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:57618400-57619000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:57618400-57619000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
27	chr12:57618400-57619000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
28	chr12:57618400-57619600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr12:57618400-57619800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:57618400-57620000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:57618400-57620600	Enhancers	Pancreas	Pancrea
32	chr12:57618400-57620600	Enhancers	Spleen	Spleen
33	chr12:57618400-57620800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
34	chr12:57618400-57620800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
35	chr12:57618400-57621000	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr12:57618400-57621600	Bivalent Enhancer	Fetal Stomach	stomach
37	chr12:57618600-57618800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
38	chr12:57618600-57618800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:57618600-57618800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:57618600-57618800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:57618600-57618800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:57618600-57618800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
43	chr12:57618600-57618800	Bivalent Enhancer	Colonic Mucosa	Colon
44	chr12:57618600-57618800	Flanking Bivalent TSS/Enh	Lung	lung
45	chr12:57618600-57618800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
46	chr12:57618600-57619000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr12:57618600-57619000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:57618600-57619000	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr12:57618600-57619400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
50	chr12:57618600-57619600	Bivalent Enhancer	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links