Variant report

Variant	rs57703598
Chromosome Location	chr12:50065016-50065017
allele	C/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	CTCF	chr12:50064900-50065050	GM12872	blood:	n/a	chr12:50064947-50064956
2	TCF12	chr12:50064786-50065080	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:50064688-50066106	GM12892	blood:	n/a	n/a
4	RELA	chr12:50064449-50065738	GM18951	blood:	n/a	chr12:50065248-50065257 chr12:50065246-50065255 chr12:50065248-50065257 chr12:50065246-50065255
5	CTCF	chr12:50064880-50065030	GM12870	blood:	n/a	chr12:50064947-50064956
6	SPI1	chr12:50064701-50065134	GM12891	blood:	n/a	n/a
7	RELA	chr12:50064647-50067064	GM12891	blood:	n/a	chr12:50065248-50065257 chr12:50065246-50065255 chr12:50065248-50065257 chr12:50065246-50065255
8	SPI1	chr12:50064717-50065076	GM12878	blood:	n/a	n/a
9	CEBPB	chr12:50064689-50065637	GM12878	blood:	n/a	n/a
10	MYC	chr12:50064690-50065057	NB4	blood:	n/a	chr12:50064845-50064855
11	MTA3	chr12:50064628-50065529	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:50064581-50065171	HL-60	blood:	n/a	n/a
13	STAT5A	chr12:50064565-50065220	GM12878	blood:	n/a	chr12:50064901-50064909
14	TCF3	chr12:50064673-50065091	GM12878	blood:	n/a	n/a
15	NFIC	chr12:50064950-50065464	GM12878	blood:	n/a	n/a
16	SPI1	chr12:50064698-50065046	HL-60	blood:	n/a	n/a
17	CTCF	chr12:50064900-50065050	GM12873	blood:	n/a	chr12:50064947-50064956
18	RELA	chr12:50064419-50067389	GM19193	blood:	n/a	chr12:50065248-50065257 chr12:50065246-50065255 chr12:50065248-50065257 chr12:50065246-50065255
19	EBF1	chr12:50064722-50065484	GM12878	blood:	n/a	n/a
20	SPI1	chr12:50064703-50065083	GM12891	blood:	n/a	n/a
21	CTCF	chr12:50064920-50065070	GM12868	blood:	n/a	chr12:50064947-50064956
22	POLR2A	chr12:50064578-50066098	GM12892	blood:	n/a	n/a
23	RUNX3	chr12:50064659-50065444	GM12878	blood:	n/a	n/a
24	EBF1	chr12:50064894-50065539	GM12878	blood:	n/a	n/a
25	MTA3	chr12:50064454-50065721	GM12878	blood:	n/a	n/a
26	EBF1	chr12:50064628-50065502	GM12878	blood:	n/a	n/a
27	MAX	chr12:50064733-50065072	NB4	blood:	n/a	chr12:50064845-50064855
28	RELA	chr12:50064591-50067007	GM19099	blood:	n/a	chr12:50065248-50065257 chr12:50065246-50065255 chr12:50065248-50065257 chr12:50065246-50065255
29	NFATC1	chr12:50064618-50065741	GM12878	blood:	n/a	n/a
30	RUNX3	chr12:50064648-50065421	GM12878	blood:	n/a	n/a
31	SPI1	chr12:50064611-50065207	HL-60	blood:	n/a	n/a
32	RELA	chr12:50064676-50065769	GM10847	blood:	n/a	chr12:50065248-50065257 chr12:50065246-50065255 chr12:50065248-50065257 chr12:50065246-50065255
33	RELA	chr12:50064783-50065602	GM12878	blood:	n/a	chr12:50065248-50065257 chr12:50065246-50065255 chr12:50065248-50065257 chr12:50065246-50065255
34	RELA	chr12:50064715-50065761	GM18505	blood:	n/a	chr12:50065248-50065257 chr12:50065246-50065255 chr12:50065248-50065257 chr12:50065246-50065255
35	WRNIP1	chr12:50065014-50065134	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50062633..50068951-chr12:50134385..50140154,8	K562	blood:
2	chr12:50059879..50062225-chr12:50063774..50067547,4	K562	blood:
3	chr12:50064210..50067102-chr12:50135101..50137236,3	K562	blood:
4	chr12:50016535..50018168-chr12:50064664..50066809,2	K562	blood:
5	chr12:50055936..50058449-chr12:50062400..50065896,4	K562	blood:
6	chr12:50058474..50062820-chr12:50063991..50067805,5	MCF-7	breast:

Variant related genes	Relation type
FMNL3	TF binding region
ENSG00000110844	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000161791	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56719680	1.00[AMR][1000 genomes]
rs61122194	1.00[AMR][1000 genomes]
rs717135	0.85[AFR][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	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50042400-50067000	Weak transcription	Fetal Brain Male	brain
2	chr12:50052200-50066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:50052600-50067000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:50052600-50067400	Weak transcription	Fetal Brain Female	brain
5	chr12:50054400-50069800	Enhancers	Left Ventricle	heart
6	chr12:50057400-50066200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:50057600-50065200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:50057600-50066000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:50057600-50066200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:50057600-50066400	Weak transcription	Aorta	Aorta
11	chr12:50057600-50066800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:50057600-50067000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:50057600-50067000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:50057600-50067200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:50057800-50066200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:50058400-50066000	Weak transcription	Esophagus	oesophagus
17	chr12:50058400-50067200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:50058800-50066000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:50059000-50065400	Weak transcription	NHLF	lung
20	chr12:50059000-50066200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:50059000-50066200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:50060000-50065400	Weak transcription	Fetal Intestine Small	intestine
23	chr12:50060000-50066000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:50060000-50066600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:50060400-50069400	Enhancers	Fetal Thymus	thymus
26	chr12:50060800-50065400	Weak transcription	Brain Germinal Matrix	brain
27	chr12:50061600-50065400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:50061800-50065600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:50062000-50065600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:50062000-50069600	Enhancers	Primary B cells from peripheral blood	blood
31	chr12:50062200-50065600	Weak transcription	Osteobl	bone
32	chr12:50062200-50067000	Enhancers	Brain Anterior Caudate	brain
33	chr12:50063000-50065800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr12:50063000-50066400	Enhancers	Brain Angular Gyrus	brain
35	chr12:50063200-50065600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:50063200-50066400	Enhancers	Brain Cingulate Gyrus	brain
37	chr12:50063200-50066800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr12:50063200-50069200	Enhancers	Thymus	Thymus
39	chr12:50063200-50069400	Enhancers	Lung	lung
40	chr12:50063200-50069800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:50063400-50068200	Enhancers	Spleen	Spleen
42	chr12:50063600-50065800	Enhancers	Colon Smooth Muscle	Colon
43	chr12:50063600-50066200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:50063600-50069200	Enhancers	Primary hematopoietic stem cells	blood
45	chr12:50063600-50069400	Enhancers	Right Atrium	heart
46	chr12:50063800-50065400	Enhancers	Stomach Smooth Muscle	stomach
47	chr12:50063800-50065800	Enhancers	Adipose Nuclei	Adipose
48	chr12:50063800-50066000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr12:50063800-50066800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr12:50063800-50069400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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