Variant report

Variant	rs1622534
Chromosome Location	chr12:121789560-121789561
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121789491-121791110	Hela-S3	cervix:	n/a	n/a
2	MYC	chr12:121789385-121791065	K562	blood:	n/a	chr12:121790305-121790315
3	POLR2A	chr12:121789212-121792074	HepG2	liver:	n/a	n/a
4	RPC155	chr12:121789021-121789816	Hela-S3	cervix:	n/a	n/a
5	MAX	chr12:121789481-121789597	K562	blood:	n/a	n/a
6	MXI1	chr12:121789469-121791258	IMR90	lung:	n/a	n/a
7	SIN3AK20	chr12:121789448-121790941	MCF-7	breast:	n/a	n/a
8	POLR2A	chr12:121789528-121790852	HL-60	blood:	n/a	n/a
9	MXI1	chr12:121788691-121791375	SK-N-SH	brain:	n/a	n/a
10	JUND	chr12:121789504-121790999	K562	blood:	n/a	chr12:121790285-121790294 chr12:121790973-121790983
11	TBP	chr12:121789506-121790678	HepG2	liver:	n/a	n/a
12	CBX3	chr12:121789078-121790844	K562	blood:	n/a	n/a
13	TBP	chr12:121789487-121791058	Hela-S3	cervix:	n/a	n/a
14	ZNF384	chr12:121789115-121790742	K562	blood:	n/a	n/a
15	TBP	chr12:121789375-121791115	K562	blood:	n/a	n/a
16	BCL3	chr12:121789473-121790685	A549	lung:	n/a	n/a
17	PML	chr12:121789540-121790722	GM12878	blood:	n/a	n/a
18	TBP	chr12:121789509-121790752	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr12:121789182-121791087	MCF10A-Er-Src	breast:	n/a	n/a
20	BDP1	chr12:121789461-121789759	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr12:121789527-121790860	K562	blood:	n/a	n/a
22	POLR2A	chr12:121789559-121790750	H1-hESC	embryonic stem cell:	n/a	n/a
23	GABPA	chr12:121789560-121790702	SK-N-SH	brain:	n/a	chr12:121790225-121790234
24	POLR2A	chr12:121789511-121790803	MCF10A-Er-Src	breast:	n/a	n/a
25	TEAD4	chr12:121789398-121790828	K562	blood:	n/a	n/a
26	MAX	chr12:121789558-121791210	A549	lung:	n/a	chr12:121790305-121790315
27	MAZ	chr12:121789390-121790916	IMR90	lung:	n/a	n/a
28	HEY1	chr12:121789412-121790781	K562	blood:	n/a	n/a
29	GABPA	chr12:121789545-121790878	MCF-7	breast:	n/a	chr12:121790225-121790234
30	TCF12	chr12:121789464-121790732	A549	lung:	n/a	n/a
31	HCFC1	chr12:121789412-121791322	Hela-S3	cervix:	n/a	n/a
32	MAX	chr12:121789358-121790792	K562	blood:	n/a	chr12:121790305-121790315
33	NR2F2	chr12:121789294-121790714	K562	blood:	n/a	n/a
34	GTF3C2	chr12:121789226-121789801	Hela-S3	cervix:	n/a	n/a
35	RPC155	chr12:121789211-121789705	K562	blood:	n/a	n/a
36	ZNF263	chr12:121789380-121791014	HEK293-T-REx	kidney:	n/a	n/a
37	POLR2A	chr12:121789433-121790775	K562	blood:	n/a	n/a
38	BCL3	chr12:121789496-121790699	A549	lung:	n/a	n/a
39	POLR2A	chr12:121789542-121790874	K562	blood:	n/a	n/a
40	EP300	chr12:121789486-121790986	GM12878	blood:	n/a	chr12:121790169-121790185
41	POLR2A	chr12:121789556-121790912	SK-N-MC	brain:	n/a	n/a
42	REST	chr12:121789548-121790662	A549	lung:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121788398..121791185-chr12:122239854..122241359,2	MCF-7	breast:
2	chr12:121786049..121792349-chr12:121835999..121841368,18	K562	blood:
3	chr12:121733327..121735828-chr12:121789056..121791412,2	MCF-7	breast:
4	chr12:121781138..121784693-chr12:121787374..121790702,7	MCF-7	breast:
5	chr12:121785461..121788491-chr12:121789239..121792486,3	K562	blood:
6	chr12:121784938..121792349-chr12:121835915..121842265,20	K562	blood:
7	chr12:121772223..121776084-chr12:121786669..121790382,4	MCF-7	breast:
8	chr12:121782570..121785356-chr12:121788886..121790920,4	K562	blood:
9	chr12:121770480..121773163-chr12:121788922..121791466,2	K562	blood:
10	chr12:121785517..121787632-chr12:121788366..121790709,4	MCF-7	breast:
11	chr12:121788188..121792674-chr12:121835209..121840455,13	MCF-7	breast:
12	chr12:121732234..121734700-chr12:121788857..121790730,2	K562	blood:
13	chr12:121788153..121793367-chr12:121835114..121840699,18	MCF-7	breast:
14	chr12:121766782..121769460-chr12:121788559..121790508,3	MCF-7	breast:

No data

Variant related genes	Relation type
ANAPC5	TF binding region
ENSG00000089053	Chromatin interaction
ENSG00000170633	Chromatin interaction
ENSG00000110931	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11065536	0.96[ASN][1000 genomes]
rs1169961	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1169962	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1169963	0.91[ASN][1000 genomes]
rs1624953	0.92[ASN][1000 genomes]
rs1647253	0.97[ASN][1000 genomes]
rs1647256	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1706463	0.86[ASN][1000 genomes]
rs1799525	0.96[ASN][1000 genomes]
rs1799526	0.95[ASN][1000 genomes]
rs2668259	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2668260	0.93[ASN][1000 genomes]
rs2668262	0.91[ASN][1000 genomes]
rs2695142	0.82[ASN][1000 genomes]
rs2695148	0.97[ASN][1000 genomes]
rs2695149	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2942074	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2950417	0.96[ASN][1000 genomes]
rs7397643	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7398701	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1622534	ANAPC5	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121788200-121791000	Active TSS	K562	blood
2	chr12:121788400-121790000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr12:121788400-121791000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr12:121788600-121789600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr12:121788600-121789800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:121788600-121790000	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr12:121788600-121791000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr12:121788600-121791000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr12:121788600-121791400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:121788800-121789600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr12:121788800-121789800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr12:121788800-121789800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr12:121788800-121789800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:121788800-121789800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr12:121788800-121790200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr12:121788800-121790800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:121788800-121790800	Active TSS	Brain Angular Gyrus	brain
18	chr12:121788800-121790800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr12:121788800-121790800	Active TSS	HMEC	breast
20	chr12:121788800-121790800	Active TSS	NH-A	brain
21	chr12:121788800-121791000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:121788800-121791000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr12:121788800-121791200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr12:121788800-121791200	Active TSS	Psoas Muscle	Psoas
25	chr12:121788800-121791200	Active TSS	HSMM	muscle
26	chr12:121788800-121791400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:121788800-121791400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:121789000-121789600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:121789000-121789600	Flanking Active TSS	Liver	Liver
30	chr12:121789000-121789600	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr12:121789000-121789600	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr12:121789000-121789600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:121789000-121789600	Active TSS	HepG2	liver
34	chr12:121789000-121789800	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr12:121789000-121789800	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr12:121789000-121790600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:121789000-121790800	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr12:121789000-121790800	Active TSS	A549	lung
39	chr12:121789000-121790800	Active TSS	Hela-S3	cervix
40	chr12:121789000-121791000	Active TSS	H9 Cell Line	embryonic stem cell
41	chr12:121789000-121791000	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr12:121789000-121791000	Active TSS	Right Atrium	heart
43	chr12:121789000-121791000	Active TSS	HSMMtube	muscle
44	chr12:121789000-121791000	Active TSS	NHLF	lung
45	chr12:121789000-121791200	Active TSS	Rectal Smooth Muscle	rectum
46	chr12:121789000-121791200	Active TSS	Stomach Mucosa	stomach
47	chr12:121789000-121791400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:121789000-121791400	Active TSS	Brain Hippocampus Middle	brain
49	chr12:121789000-121791400	Active TSS	NHDF-Ad	bronchial
50	chr12:121789000-121791400	Active TSS	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links