Variant report

Variant	rs1647256
Chromosome Location	chr12:121789887-121789888
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:372)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr12:121789790-121790532	H1-hESC	embryonic stem cell:	n/a	chr12:121790285-121790294
2	POLR2A	chr12:121789491-121791110	Hela-S3	cervix:	n/a	n/a
3	MYC	chr12:121789385-121791065	K562	blood:	n/a	chr12:121790305-121790315
4	HEY1	chr12:121789791-121790610	HepG2	liver:	n/a	n/a
5	CTCF	chr12:121789880-121790030	HVMF	connective:	n/a	n/a
6	POLR2A	chr12:121789710-121790669	GM12892	blood:	n/a	n/a
7	POLR2A	chr12:121789212-121792074	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:121789644-121790746	GM12892	blood:	n/a	n/a
9	PML	chr12:121789686-121790878	K562	blood:	n/a	n/a
10	POLR2A	chr12:121789678-121791390	HepG2	liver:	n/a	n/a
11	UBTF	chr12:121789673-121790934	K562	blood:	n/a	n/a
12	TCF12	chr12:121789783-121790301	GM12878	blood:	n/a	n/a
13	MAX	chr12:121789622-121790886	HCT-116	colon:	n/a	chr12:121790305-121790315
14	EP300	chr12:121789707-121790669	A549	lung:	n/a	chr12:121790169-121790185
15	TEAD4	chr12:121789684-121790494	K562	blood:	n/a	n/a
16	MYC	chr12:121789843-121790493	MCF-7	breast:	n/a	chr12:121790305-121790315
17	POLR2A	chr12:121789745-121790518	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr12:121789587-121791129	HepG2	liver:	n/a	chr12:121790305-121790315
19	POLR2A	chr12:121789654-121790642	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr12:121789833-121790595	GM12878	blood:	n/a	n/a
21	MXI1	chr12:121789469-121791258	IMR90	lung:	n/a	n/a
22	SIN3AK20	chr12:121789448-121790941	MCF-7	breast:	n/a	n/a
23	USF1	chr12:121789835-121790591	SK-N-SH	brain:	n/a	chr12:121790168-121790184
24	GTF2F1	chr12:121789732-121790703	K562	blood:	n/a	n/a
25	E2F1	chr12:121789843-121790713	Hela-S3	cervix:	n/a	n/a
26	FOXM1	chr12:121789741-121790543	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:121789821-121790785	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr12:121789883-121790673	PANC-1	pancreas:	n/a	n/a
29	MAX	chr12:121789854-121790524	MCF-7	breast:	n/a	chr12:121790305-121790315
30	RELA	chr12:121789794-121790638	GM18951	blood:	n/a	n/a
31	HMGN3	chr12:121789800-121790359	K562	blood:	n/a	n/a
32	POLR2A	chr12:121789528-121790852	HL-60	blood:	n/a	n/a
33	MXI1	chr12:121788691-121791375	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr12:121789762-121790688	GM15510	blood:	n/a	n/a
35	POLR2A	chr12:121789847-121790534	A549	lung:	n/a	n/a
36	YY1	chr12:121789817-121790494	K562	blood:	n/a	n/a
37	MAX	chr12:121789698-121790985	Hela-S3	cervix:	n/a	chr12:121790305-121790315
38	MYC	chr12:121789728-121790757	A549	lung:	n/a	chr12:121790305-121790315
39	TAF1	chr12:121789666-121790623	H1-neurons	neurons:	n/a	n/a
40	RAD21	chr12:121789809-121790742	SK-N-SH_RA	brain:	n/a	n/a
41	MAFK	chr12:121789757-121791086	Hela-S3	cervix:	n/a	chr12:121790972-121790981 chr12:121790972-121790982 chr12:121790967-121790982
42	TCF7L2	chr12:121789811-121790626	HCT-116	colon:	n/a	n/a
43	TAF1	chr12:121789783-121790758	SK-N-SH	brain:	n/a	n/a
44	YY1	chr12:121789666-121790558	SK-N-SH_RA	brain:	n/a	n/a
45	TCF12	chr12:121789850-121790807	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr12:121789722-121790735	ECC-1	luminal epithelium:	n/a	n/a
47	JUND	chr12:121789504-121790999	K562	blood:	n/a	chr12:121790285-121790294 chr12:121790973-121790983
48	YY1	chr12:121789749-121790508	GM12878	blood:	n/a	n/a
49	POLR2A	chr12:121789695-121790727	Raji	blood:	n/a	n/a
50	POLR2A	chr12:121789690-121791029	IMR90	lung:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121788398..121791185-chr12:122239854..122241359,2	MCF-7	breast:
2	chr12:121789697..121790473-chr3:169482265..169483199,2	Hela-S3	cervix:
3	chr12:121786049..121792349-chr12:121835999..121841368,18	K562	blood:
4	chr12:121733327..121735828-chr12:121789056..121791412,2	MCF-7	breast:
5	chr12:121781138..121784693-chr12:121787374..121790702,7	MCF-7	breast:
6	chr12:121789690..121790388-chr20:47895038..47895618,2	NB4	blood:
7	chr12:121785461..121788491-chr12:121789239..121792486,3	K562	blood:
8	chr12:121784938..121792349-chr12:121835915..121842265,20	K562	blood:
9	chr12:121772223..121776084-chr12:121786669..121790382,4	MCF-7	breast:
10	chr12:121782570..121785356-chr12:121788886..121790920,4	K562	blood:
11	chr12:121733351..121735289-chr12:121789720..121791843,2	MCF-7	breast:
12	chr12:121789854..121791773-chr12:121828508..121830163,2	MCF-7	breast:
13	chr12:121770480..121773163-chr12:121788922..121791466,2	K562	blood:
14	chr12:121785517..121787632-chr12:121788366..121790709,4	MCF-7	breast:
15	chr12:121789568..121790547-chr22:39714885..39715788,2	Hela-S3	cervix:
16	chr12:121789778..121790626-chr17:56406618..56407135,2	NB4	blood:
17	chr12:121789720..121790412-chr3:73159959..73160589,2	Hela-S3	cervix:
18	chr12:121788188..121792674-chr12:121835209..121840455,13	MCF-7	breast:
19	chr12:121732234..121734700-chr12:121788857..121790730,2	K562	blood:
20	chr10:103124628..103125132-chr12:121789750..121790462,2	Hela-S3	cervix:
21	chr12:121788153..121793367-chr12:121835114..121840699,18	MCF-7	breast:
22	chr12:121789806..121790504-chr12:121837555..121838139,2	HCT-116	colon:
23	chr12:121766782..121769460-chr12:121788559..121790508,3	MCF-7	breast:

No data

Variant related genes	Relation type
ANAPC5	TF binding region
ENSG00000270141	Chromatin interaction
ENSG00000110931	Chromatin interaction
ENSG00000265148	Chromatin interaction
ENSG00000258435	Chromatin interaction
ENSG00000222414	Chromatin interaction
ENSG00000089053	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000209042	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000263764	Chromatin interaction
ENSG00000100316	Chromatin interaction
ENSG00000177410	Chromatin interaction
ENSG00000170633	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11065536	0.92[ASN][1000 genomes]
rs1169961	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1169962	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1169963	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1622534	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1624953	0.94[ASN][1000 genomes]
rs1647253	0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1706463	0.83[ASN][1000 genomes]
rs1799525	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1799526	0.91[ASN][1000 genomes]
rs2668259	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2668260	0.89[ASN][1000 genomes]
rs2668262	0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2695148	0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2695149	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2942074	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2950417	0.92[ASN][1000 genomes]
rs7397643	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7398701	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1647256	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	chr12:121788600-121790000	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr12:121788600-121791000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr12:121788600-121791000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:121788600-121791400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:121788800-121790200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr12:121788800-121790800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:121788800-121790800	Active TSS	Brain Angular Gyrus	brain
11	chr12:121788800-121790800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr12:121788800-121790800	Active TSS	HMEC	breast
13	chr12:121788800-121790800	Active TSS	NH-A	brain
14	chr12:121788800-121791000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:121788800-121791000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr12:121788800-121791200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr12:121788800-121791200	Active TSS	Psoas Muscle	Psoas
18	chr12:121788800-121791200	Active TSS	HSMM	muscle
19	chr12:121788800-121791400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr12:121788800-121791400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:121789000-121790600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:121789000-121790800	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr12:121789000-121790800	Active TSS	A549	lung
24	chr12:121789000-121790800	Active TSS	Hela-S3	cervix
25	chr12:121789000-121791000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr12:121789000-121791000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr12:121789000-121791000	Active TSS	Right Atrium	heart
28	chr12:121789000-121791000	Active TSS	HSMMtube	muscle
29	chr12:121789000-121791000	Active TSS	NHLF	lung
30	chr12:121789000-121791200	Active TSS	Rectal Smooth Muscle	rectum
31	chr12:121789000-121791200	Active TSS	Stomach Mucosa	stomach
32	chr12:121789000-121791400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:121789000-121791400	Active TSS	Brain Hippocampus Middle	brain
34	chr12:121789000-121791400	Active TSS	NHDF-Ad	bronchial
35	chr12:121789000-121791400	Active TSS	Osteobl	bone
36	chr12:121789200-121790600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:121789200-121790800	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr12:121789200-121790800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:121789200-121790800	Active TSS	Brain Substantia Nigra	brain
40	chr12:121789200-121790800	Active TSS	Colon Smooth Muscle	Colon
41	chr12:121789200-121790800	Active TSS	Esophagus	oesophagus
42	chr12:121789200-121790800	Active TSS	Fetal Kidney	kidney
43	chr12:121789200-121790800	Active TSS	Dnd41	blood
44	chr12:121789200-121790800	Active TSS	GM12878-XiMat	blood
45	chr12:121789200-121790800	Active TSS	HUVEC	blood vessel
46	chr12:121789200-121790800	Active TSS	NHEK	skin
47	chr12:121789200-121791000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:121789200-121791000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:121789200-121791000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:121789200-121791000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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