Variant report

Variant	rs1882018
Chromosome Location	chr12:104363181-104363182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:104362937-104363733	SK-N-SH	brain:	n/a	n/a
2	FOSL2	chr12:104363174-104363667	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr12:104363070-104363507	T-47D	breast:	n/a	n/a
4	GATA3	chr12:104363036-104363687	MCF-7	breast:	n/a	n/a
5	GATA3	chr12:104363037-104363616	T-47D	breast:	n/a	n/a
6	JUND	chr12:104362731-104363845	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr12:104362911-104363729	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr12:104362909-104363812	MCF-7	breast:	n/a	n/a
9	TCF12	chr12:104362982-104363781	SK-N-SH	brain:	n/a	n/a
10	TCF12	chr12:104363015-104363672	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr12:104363032-104363698	SK-N-SH	brain:	n/a	n/a
12	FOSL2	chr12:104362978-104363773	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr12:104362932-104363288	GM12891	blood:	n/a	n/a
14	JUND	chr12:104363047-104363596	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr12:104363097-104363281	SH-SY5Y	brain:	n/a	n/a
16	TEAD4	chr12:104363045-104363593	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr12:104363008-104363751	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr12:104363006-104363549	GM12892	blood:	n/a	n/a
19	JUND	chr12:104363056-104363677	MCF-7	breast:	n/a	n/a
20	JUND	chr12:104363002-104363724	SK-N-SH	brain:	n/a	n/a
21	EP300	chr12:104363003-104363663	SK-N-SH	brain:	n/a	n/a
22	PBX3	chr12:104362941-104363676	SK-N-SH	brain:	n/a	n/a
23	GATA3	chr12:104363141-104363523	MCF-7	breast:	n/a	n/a
24	POLR2A	chr12:104363101-104363710	K562	blood:	n/a	n/a
25	TEAD4	chr12:104362971-104363651	SK-N-SH	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104362802..104364735-chr12:104371698..104373684,2	MCF-7	breast:
2	chr12:104312881..104315821-chr12:104362350..104364387,2	K562	blood:
3	chr12:104362237..104366185-chr12:104369419..104371303,3	MCF-7	breast:
4	chr12:104323420..104325747-chr12:104361567..104364932,4	MCF-7	breast:

No data

Variant related genes	Relation type
C12orf73	TF binding region
ENSG00000139372	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000166598	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11111861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125322	1.00[ASN][1000 genomes]
rs11611650	1.00[ASN][1000 genomes]
rs1165672	1.00[ASN][1000 genomes]
rs12825687	1.00[ASN][1000 genomes]
rs1385663	1.00[ASN][1000 genomes]
rs167715	1.00[ASN][1000 genomes]
rs167716	1.00[ASN][1000 genomes]
rs2243680	1.00[ASN][1000 genomes]
rs2248995	1.00[ASN][1000 genomes]
rs2251215	1.00[ASN][1000 genomes]
rs2252213	1.00[ASN][1000 genomes]
rs2374327	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2439621	1.00[ASN][1000 genomes]
rs2576943	1.00[ASN][1000 genomes]
rs2583224	1.00[ASN][1000 genomes]
rs2583225	1.00[ASN][1000 genomes]
rs2583233	1.00[ASN][1000 genomes]
rs2583234	1.00[ASN][1000 genomes]
rs2583237	1.00[ASN][1000 genomes]
rs2583244	1.00[ASN][1000 genomes]
rs2583258	1.00[ASN][1000 genomes]
rs2583274	1.00[ASN][1000 genomes]
rs2583278	1.00[ASN][1000 genomes]
rs2629750	1.00[ASN][1000 genomes]
rs2700494	1.00[ASN][1000 genomes]
rs2700507	1.00[ASN][1000 genomes]
rs2700517	1.00[ASN][1000 genomes]
rs2722177	1.00[ASN][1000 genomes]
rs2722180	1.00[ASN][1000 genomes]
rs2722194	1.00[ASN][1000 genomes]
rs2723849	1.00[ASN][1000 genomes]
rs2723850	1.00[ASN][1000 genomes]
rs2723853	1.00[ASN][1000 genomes]
rs322104	1.00[ASN][1000 genomes]
rs322109	1.00[ASN][1000 genomes]
rs35140616	1.00[ASN][1000 genomes]
rs4135039	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135040	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135047	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135048	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135050	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135059	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4135061	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135062	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135066	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs784084	1.00[ASN][1000 genomes]
rs931306	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3359723	chr12:104359646-104370785	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104358600-104363600	Active TSS	Right Ventricle	heart
2	chr12:104360400-104363200	Weak transcription	Gastric	stomach
3	chr12:104360400-104368000	Weak transcription	Pancreas	Pancrea
4	chr12:104360800-104363800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:104360800-104363800	Enhancers	Liver	Liver
6	chr12:104360800-104366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:104360800-104368000	Weak transcription	Lung	lung
8	chr12:104360800-104371200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:104360800-104371200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:104360800-104371200	Weak transcription	Colonic Mucosa	Colon
11	chr12:104360800-104371800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:104360800-104378600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:104360800-104381000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:104361000-104363200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:104361000-104363400	Enhancers	Fetal Heart	heart
16	chr12:104361000-104363600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr12:104361000-104363600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:104361000-104364200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr12:104361000-104365600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:104361000-104365800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:104361000-104367000	Weak transcription	Fetal Intestine Large	intestine
22	chr12:104361000-104368800	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:104361000-104370800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:104361000-104371000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:104361000-104371000	Weak transcription	Fetal Kidney	kidney
26	chr12:104361000-104372000	Weak transcription	Stomach Mucosa	stomach
27	chr12:104361200-104363600	Enhancers	Brain Angular Gyrus	brain
28	chr12:104361200-104363800	Enhancers	HMEC	breast
29	chr12:104361200-104366800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:104361200-104367000	Weak transcription	Fetal Stomach	stomach
31	chr12:104361200-104367400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:104361200-104369400	Weak transcription	Right Atrium	heart
33	chr12:104361200-104370400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:104361200-104370800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:104361200-104370800	Weak transcription	Fetal Lung	lung
36	chr12:104361200-104371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:104361200-104371000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:104361200-104379400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:104361400-104363600	Genic enhancers	Primary T cells from cord blood	blood
40	chr12:104361400-104363600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:104361400-104363600	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr12:104361600-104363200	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr12:104361600-104363400	Genic enhancers	Thymus	Thymus
44	chr12:104361600-104363400	Enhancers	Spleen	Spleen
45	chr12:104361600-104363600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:104361600-104363600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:104361600-104363800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:104361600-104363800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
49	chr12:104361600-104364000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:104361600-104364000	Genic enhancers	K562	blood

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