Variant report

Variant	rs1152907
Chromosome Location	chr12:66629272-66629273
allele	C/T
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	chr12:66629132-66629313	K562	blood:	n/a	n/a
2	CTCF	chr12:66629180-66629330	GM12865	blood:	n/a	n/a
3	CTCF	chr12:66629103-66629307	Pancreas_OC	pancreas:	n/a	n/a
4	CTCF	chr12:66629033-66629375	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr12:66628971-66629334	K562	blood:	n/a	n/a
6	RAD21	chr12:66629072-66629275	K562	blood:	n/a	n/a
7	MAX	chr12:66629056-66629367	K562	blood:	n/a	n/a
8	MAX	chr12:66629138-66629412	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:66629162-66629376	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:66628941-66629427	A549	lung:	n/a	n/a
11	CTCF	chr12:66629121-66629348	K562	blood:	n/a	n/a
12	MAX	chr12:66628828-66629426	NB4	blood:	n/a	n/a
13	MYC	chr12:66628994-66629426	NB4	blood:	n/a	n/a
14	RCOR1	chr12:66628900-66629334	K562	blood:	n/a	n/a
15	CCNT2	chr12:66628971-66629441	K562	blood:	n/a	n/a
16	ZNF263	chr12:66628907-66629435	HEK293-T-REx	kidney:	n/a	chr12:66629132-66629153
17	CTCF	chr12:66629160-66629310	GM12866	blood:	n/a	n/a
18	CTCF	chr12:66629180-66629330	BJ	skin:	n/a	n/a
19	HEY1	chr12:66629134-66629359	K562	blood:	n/a	n/a
20	HMGN3	chr12:66629069-66629451	K562	blood:	n/a	n/a
21	POLR2A	chr12:66628796-66629464	PBDE	blood:	n/a	n/a
22	POLR2A	chr12:66628889-66629469	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr12:66629027-66629325	Spleen_OC	spleen:	n/a	n/a
24	YY1	chr12:66628902-66629443	GM12892	blood:	n/a	chr12:66629370-66629381 chr12:66629388-66629397 chr12:66629292-66629306
25	POLR2A	chr12:66628550-66629435	GM12892	blood:	n/a	n/a
26	CTCF	chr12:66629258-66629342	GM13976	blood:	n/a	n/a
27	ZNF143	chr12:66628906-66629343	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:66629246-66629395	A549	lung:	n/a	n/a
29	CTCF	chr12:66629140-66629290	HMF	breast:	n/a	n/a
30	CTCF	chr12:66629140-66629290	GM12873	blood:	n/a	n/a
31	CTCF	chr12:66629020-66629441	GM19238	blood:	n/a	n/a
32	POLR2A	chr12:66628794-66629285	HUVEC	blood vessel:	n/a	n/a
33	GATA1	chr12:66628774-66629896	PBDE	blood:	n/a	chr12:66629795-66629805 chr12:66629796-66629805 chr12:66629792-66629808 chr12:66629794-66629806
34	CTCF	chr12:66629160-66629310	GM12871	blood:	n/a	n/a
35	CTCF	chr12:66629104-66629407	GM12892	blood:	n/a	n/a
36	CTCF	chr12:66629160-66629310	GM12875	blood:	n/a	n/a
37	POLR2A	chr12:66629195-66629389	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr12:66629180-66629330	AG09309	skin:	n/a	n/a
39	RAD21	chr12:66629096-66629296	IMR90	lung:	n/a	n/a
40	MAZ	chr12:66628711-66629422	IMR90	lung:	n/a	n/a
41	POLR2A	chr12:66628752-66629414	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr12:66629200-66629422	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr12:66629026-66629395	K562	blood:	n/a	n/a
44	CTCF	chr12:66629180-66629330	HPF	lung:	n/a	n/a
45	JUND	chr12:66628971-66629438	A549	lung:	n/a	n/a
46	CREB1	chr12:66628954-66629342	A549	lung:	n/a	n/a
47	CTCF	chr12:66629119-66629313	GM10248	blood:	n/a	n/a
48	POLR2A	chr12:66628896-66629403	A549	lung:	n/a	n/a
49	CTCF	chr12:66629158-66629276	Lung_OC	lung:	n/a	n/a
50	CTCF	chr12:66629140-66629290	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
RBMS1P1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1152906	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1152908	0.81[AMR][1000 genomes]
rs1152909	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1152907	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66615600-66643400	Weak transcription	Stomach Mucosa	stomach
2	chr12:66626600-66633600	Weak transcription	Fetal Lung	lung
3	chr12:66628000-66629400	Enhancers	Spleen	Spleen
4	chr12:66628200-66629800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:66628200-66629800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr12:66628400-66630000	Active TSS	Osteobl	bone
7	chr12:66628600-66629400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:66628600-66629400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:66628600-66629400	Active TSS	HUVEC	blood vessel
10	chr12:66628600-66629600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr12:66628600-66629600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:66628600-66629600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr12:66628600-66629600	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr12:66628600-66629600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr12:66628600-66629600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr12:66628600-66629600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:66628600-66629600	Active TSS	Primary B cells from cord blood	blood
18	chr12:66628600-66629600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr12:66628600-66629600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr12:66628600-66629600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:66628600-66629600	Active TSS	Brain Angular Gyrus	brain
22	chr12:66628600-66629600	Active TSS	Brain Hippocampus Middle	brain
23	chr12:66628600-66629600	Active TSS	Brain Substantia Nigra	brain
24	chr12:66628600-66629600	Active TSS	Right Atrium	heart
25	chr12:66628600-66629800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr12:66628600-66629800	Active TSS	Primary T cells from cord blood	blood
27	chr12:66628600-66629800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:66628600-66629800	Active TSS	Stomach Smooth Muscle	stomach
29	chr12:66628600-66630000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:66628600-66630000	Active TSS	Muscle Satellite Cultured Cells	--
31	chr12:66628600-66630000	Active TSS	A549	lung
32	chr12:66628600-66630000	Active TSS	HMEC	breast
33	chr12:66628600-66630200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:66628600-66630400	Active TSS	Brain Anterior Caudate	brain
35	chr12:66628800-66629400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:66628800-66629400	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
37	chr12:66628800-66629400	Active TSS	Aorta	Aorta
38	chr12:66628800-66629400	Active TSS	Brain Cingulate Gyrus	brain
39	chr12:66628800-66629400	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr12:66628800-66629400	Active TSS	Esophagus	oesophagus
41	chr12:66628800-66629400	Active TSS	Gastric	stomach
42	chr12:66628800-66629400	Active TSS	Left Ventricle	heart
43	chr12:66628800-66629400	Active TSS	Lung	lung
44	chr12:66628800-66629400	Active TSS	Right Ventricle	heart
45	chr12:66628800-66629400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
46	chr12:66628800-66629600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:66628800-66629600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:66628800-66629600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:66628800-66629600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr12:66628800-66629600	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links