Variant report

Variant	rs12370257
Chromosome Location	chr12:57385287-57385288
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	SPI1	chr12:57385245-57385677	K562	blood:	n/a	chr12:57385455-57385464 chr12:57385454-57385467 chr12:57385453-57385466 chr12:57385456-57385463 chr12:57385454-57385467
2	POLR2A	chr12:57385282-57385632	K562	blood:	n/a	n/a
3	CUX1	chr12:57385085-57385597	K562	blood:	n/a	n/a
4	MAFK	chr12:57384928-57385598	K562	blood:	n/a	n/a
5	TAL1	chr12:57385006-57385339	K562	blood:	n/a	chr12:57385086-57385104
6	ELF1	chr12:57385216-57385766	K562	blood:	n/a	chr12:57385453-57385466 chr12:57385723-57385734 chr12:57385455-57385466
7	SPI1	chr12:57385253-57385669	GM12891	blood:	n/a	chr12:57385455-57385464 chr12:57385454-57385467 chr12:57385453-57385466 chr12:57385456-57385463 chr12:57385454-57385467
8	MAFF	chr12:57385180-57385574	K562	blood:	n/a	n/a
9	POLR2A	chr12:57385252-57385343	HUVEC	blood vessel:	n/a	n/a
10	SPI1	chr12:57385133-57385780	HL-60	blood:	n/a	chr12:57385455-57385464 chr12:57385454-57385467 chr12:57385453-57385466 chr12:57385456-57385463 chr12:57385454-57385467
11	JUND	chr12:57385275-57385592	K562	blood:	n/a	n/a
12	RCOR1	chr12:57384349-57385682	K562	blood:	n/a	n/a
13	SPI1	chr12:57385195-57385701	GM12891	blood:	n/a	chr12:57385455-57385464 chr12:57385454-57385467 chr12:57385453-57385466 chr12:57385456-57385463 chr12:57385454-57385467
14	POLR2A	chr12:57385201-57385401	K562	blood:	n/a	n/a
15	MAX	chr12:57384832-57385537	K562	blood:	n/a	chr12:57384990-57385000 chr12:57384981-57384997 chr12:57384990-57384999 chr12:57384989-57385000 chr12:57384991-57384998
16	SPI1	chr12:57385240-57385715	K562	blood:	n/a	chr12:57385455-57385464 chr12:57385454-57385467 chr12:57385453-57385466 chr12:57385456-57385463 chr12:57385454-57385467
17	TBL1XR1	chr12:57384969-57385664	K562	blood:	n/a	n/a
18	CCNT2	chr12:57385185-57385490	K562	blood:	n/a	chr12:57385351-57385360
19	EP300	chr12:57384620-57385637	K562	blood:	n/a	chr12:57385455-57385464 chr12:57385451-57385465 chr12:57385315-57385329
20	ARID3A	chr12:57385229-57385479	K562	blood:	n/a	n/a
21	RCOR1	chr12:57385044-57385746	K562	blood:	n/a	n/a
22	SPI1	chr12:57385028-57385767	GM12878	blood:	n/a	chr12:57385455-57385464 chr12:57385454-57385467 chr12:57385453-57385466 chr12:57385456-57385463 chr12:57385454-57385467
23	TEAD4	chr12:57385001-57385827	K562	blood:	n/a	n/a
24	MYC	chr12:57384901-57385541	K562	blood:	n/a	chr12:57384990-57385000 chr12:57384981-57384997 chr12:57384990-57384999 chr12:57384989-57385000 chr12:57384991-57384998
25	MAX	chr12:57384493-57385759	K562	blood:	n/a	chr12:57384990-57385000 chr12:57384981-57384997 chr12:57384990-57384999 chr12:57384989-57385000 chr12:57384991-57384998
26	POLR2A	chr12:57385278-57385332	GM12878	blood:	n/a	n/a
27	TBL1XR1	chr12:57385265-57385463	K562	blood:	n/a	n/a
28	ZNF384	chr12:57385051-57385322	K562	blood:	n/a	n/a
29	RUNX3	chr12:57385283-57385828	GM12878	blood:	n/a	n/a
30	MYC	chr12:57384794-57385764	K562	blood:	n/a	chr12:57384990-57385000 chr12:57384981-57384997 chr12:57384990-57384999 chr12:57384989-57385000 chr12:57384991-57384998
31	REST	chr12:57385140-57385555	K562	blood:	n/a	n/a
32	SPI1	chr12:57385281-57385679	GM12878	blood:	n/a	chr12:57385455-57385464 chr12:57385454-57385467 chr12:57385453-57385466 chr12:57385456-57385463 chr12:57385454-57385467
33	POLR2A	chr12:57384843-57385718	K562	blood:	n/a	n/a
34	POLR2A	chr12:57384827-57385341	HUVEC	blood vessel:	n/a	n/a
35	SPI1	chr12:57385267-57385661	HL-60	blood:	n/a	chr12:57385455-57385464 chr12:57385454-57385467 chr12:57385453-57385466 chr12:57385456-57385463 chr12:57385454-57385467
36	MAZ	chr12:57384969-57385570	K562	blood:	n/a	chr12:57384990-57385000 chr12:57384981-57384997 chr12:57384990-57384999 chr12:57384989-57385000 chr12:57384991-57384998

No.	Distal block	Cell Line	Cell type
1	chr12:57385223..57387081-chr12:57387625..57389935,2	MCF-7	breast:
2	chr12:57385045..57387318-chr12:57398698..57402627,3	MCF-7	breast:
3	chr12:57370332..57372734-chr12:57384660..57386537,2	K562	blood:
4	chr12:57115987..57119650-chr12:57382476..57385530,4	K562	blood:
5	chr12:57117504..57119856-chr12:57383236..57385393,2	K562	blood:
6	chr12:57383555..57386329-chr12:57391062..57393949,2	K562	blood:
7	chr12:57327412..57328967-chr12:57383083..57385624,2	K562	blood:
8	chr12:57381152..57386440-chr12:57387295..57390805,5	K562	blood:
9	chr12:57385239..57389108-chr12:57389505..57392552,4	MCF-7	breast:
10	chr12:57341072..57342721-chr12:57384674..57386261,2	K562	blood:

Variant related genes	Relation type
ENSG00000258442	TF binding region
GPR182	TF binding region
ENSG00000170426	Chromatin interaction
ENSG00000258442	Chromatin interaction
ENSG00000166856	Chromatin interaction
ENSG00000268162	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000166860	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10506348	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11172086	0.89[AMR][1000 genomes]
rs1813812	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1813814	0.85[ASN][1000 genomes]
rs3741578	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61939622	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7134373	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs725956	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7958413	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][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	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	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57361800-57389000	Weak transcription	Aorta	Aorta
2	chr12:57373200-57388600	Weak transcription	Fetal Brain Female	brain
3	chr12:57373200-57388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:57377000-57395200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:57380000-57391400	Weak transcription	Fetal Intestine Large	intestine
6	chr12:57380200-57385400	Weak transcription	HepG2	liver
7	chr12:57381400-57388800	Weak transcription	Brain Germinal Matrix	brain
8	chr12:57381400-57389000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:57381400-57389000	Weak transcription	Thymus	Thymus
10	chr12:57381400-57393800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:57381400-57395400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:57381400-57396400	Weak transcription	HMEC	breast
13	chr12:57381600-57388400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:57381800-57388800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:57381800-57389000	Weak transcription	Brain Angular Gyrus	brain
16	chr12:57381800-57389200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:57381800-57389800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:57381800-57390800	Weak transcription	Dnd41	blood
19	chr12:57381800-57391000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:57381800-57392600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:57381800-57393400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:57381800-57393400	Weak transcription	Pancreas	Pancrea
23	chr12:57381800-57395200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:57381800-57396400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:57381800-57397000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:57382000-57389000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:57382000-57392000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:57382000-57392400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:57382400-57389000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:57382600-57385400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:57382600-57388800	Weak transcription	Fetal Intestine Small	intestine
32	chr12:57382600-57389000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:57382600-57393000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:57382600-57393200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:57383000-57385400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:57383000-57391400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:57383000-57391800	Weak transcription	A549	lung
38	chr12:57383000-57393600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:57383200-57385400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:57383200-57390800	Weak transcription	HSMM	muscle
41	chr12:57383200-57394400	Weak transcription	Hela-S3	cervix
42	chr12:57383200-57398800	Weak transcription	Fetal Heart	heart
43	chr12:57384200-57388200	Enhancers	Liver	Liver
44	chr12:57384400-57385800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr12:57384400-57386000	Enhancers	HUVEC	blood vessel
46	chr12:57384400-57386200	Enhancers	Adipose Nuclei	Adipose
47	chr12:57384600-57385400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr12:57384600-57385400	Enhancers	GM12878-XiMat	blood
49	chr12:57384600-57385600	Enhancers	Left Ventricle	heart
50	chr12:57384600-57385600	Enhancers	Lung	lung

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