Variant report

Variant	rs11541850
Chromosome Location	chr12:121790178-121790179
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:586)
CpG islands
(count:122)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:586 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

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	ZC3H11A	chr12:121789971-121790576	K562	blood:	n/a	n/a
6	NFYA	chr12:121790056-121790516	GM12878	blood:	n/a	chr12:121790281-121790299 chr12:121790281-121790296 chr12:121790281-121790296 chr12:121790283-121790293 chr12:121790283-121790293 chr12:121790281-121790294 chr12:121790280-121790292 chr12:121790281-121790295
7	POLR2A	chr12:121789710-121790669	GM12892	blood:	n/a	n/a
8	FOSL2	chr12:121790051-121790497	A549	lung:	n/a	chr12:121790285-121790294
9	POLR2A	chr12:121789212-121792074	HepG2	liver:	n/a	n/a
10	YY1	chr12:121789994-121790498	HCT-116	colon:	n/a	n/a
11	POLR2A	chr12:121789644-121790746	GM12892	blood:	n/a	n/a
12	PML	chr12:121789686-121790878	K562	blood:	n/a	n/a
13	POLR2A	chr12:121789678-121791390	HepG2	liver:	n/a	n/a
14	UBTF	chr12:121789673-121790934	K562	blood:	n/a	n/a
15	MBD4	chr12:121790074-121790656	HepG2	liver:	n/a	n/a
16	TCF12	chr12:121789783-121790301	GM12878	blood:	n/a	n/a
17	SP1	chr12:121790038-121790568	GM12878	blood:	n/a	chr12:121790348-121790360 chr12:121790282-121790303 chr12:121790349-121790358 chr12:121790454-121790468
18	MAX	chr12:121789622-121790886	HCT-116	colon:	n/a	chr12:121790305-121790315
19	RAD21	chr12:121790025-121790512	HepG2	liver:	n/a	n/a
20	SIN3AK20	chr12:121789933-121790541	PFSK-1	brain:	n/a	n/a
21	SMC3	chr12:121790056-121790495	HepG2	liver:	n/a	n/a
22	STAT5A	chr12:121789972-121790624	K562	blood:	n/a	n/a
23	EP300	chr12:121789707-121790669	A549	lung:	n/a	chr12:121790169-121790185
24	TEAD4	chr12:121789684-121790494	K562	blood:	n/a	n/a
25	MYC	chr12:121789843-121790493	MCF-7	breast:	n/a	chr12:121790305-121790315
26	POLR2A	chr12:121789745-121790518	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZBTB33	chr12:121789973-121790632	HCT-116	colon:	n/a	n/a
28	MAX	chr12:121789587-121791129	HepG2	liver:	n/a	chr12:121790305-121790315
29	EP300	chr12:121790008-121790536	HepG2	liver:	n/a	chr12:121790169-121790185
30	POLR2A	chr12:121789654-121790642	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr12:121789833-121790595	GM12878	blood:	n/a	n/a
32	MXI1	chr12:121789469-121791258	IMR90	lung:	n/a	n/a
33	ATF2	chr12:121789916-121790617	GM12878	blood:	n/a	n/a
34	SIN3AK20	chr12:121789448-121790941	MCF-7	breast:	n/a	n/a
35	POLR2A	chr12:121789930-121790530	HCT-116	colon:	n/a	n/a
36	GABPA	chr12:121790113-121790481	Hela-S3	cervix:	n/a	chr12:121790225-121790234
37	POLR2A	chr12:121789900-121790807	U87	brain:	n/a	n/a
38	USF1	chr12:121789835-121790591	SK-N-SH	brain:	n/a	chr12:121790168-121790184
39	GTF2F1	chr12:121789732-121790703	K562	blood:	n/a	n/a
40	E2F1	chr12:121789843-121790713	Hela-S3	cervix:	n/a	n/a
41	FOXM1	chr12:121789741-121790543	GM12878	blood:	n/a	n/a
42	CTCF	chr12:121790120-121790270	GM12866	blood:	n/a	n/a
43	MAX	chr12:121789937-121790592	K562	blood:	n/a	chr12:121790305-121790315
44	GATA3	chr12:121790001-121790593	T-47D	breast:	n/a	n/a
45	POLR2A	chr12:121789821-121790785	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr12:121789883-121790673	PANC-1	pancreas:	n/a	n/a
47	MAX	chr12:121789854-121790524	MCF-7	breast:	n/a	chr12:121790305-121790315
48	IRF4	chr12:121790053-121790491	GM12878	blood:	n/a	n/a
49	RELA	chr12:121789794-121790638	GM18951	blood:	n/a	n/a
50	HMGN3	chr12:121789800-121790359	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121790146-121790196	NHBE	bronchial:	n/a
2	chr12:121790146-121790196	ECC-1	luminal epithelium:	n/a
3	chr12:121790146-121790196	AG04450	lung:	fetal
4	chr12:121790146-121790196	GM12891	blood:	n/a
5	chr12:121790172-121790222	HCF	heart:	n/a
6	chr12:121790146-121790196	NT2-D1	testis:	n/a
7	chr12:121790172-121790222	HPAEpiC	pulmonary alveolar:	n/a
8	chr12:121790146-121790196	HCPEpiC	choroid plexus:	n/a
9	chr12:121790172-121790222	ProgFib	skin:	n/a
10	chr12:121790146-121790196	GM12878	blood:	n/a
11	chr12:121790146-121790196	AG09309	skin:	n/a
12	chr12:121790146-121790196	HIPEpiC	eye:	n/a
13	chr12:121790172-121790222	NHDF-neo	bronchial:	n/a
14	chr12:121790172-121790222	HNPCEpiC	eye:	n/a
15	chr12:121790172-121790222	GM06990	blood:	n/a
16	chr12:121790146-121790196	PrEC	prostate:	n/a
17	chr12:121790146-121790196	GM19239	blood:	n/a
18	chr12:121790172-121790222	T-47D	breast:	n/a
19	chr12:121790172-121790222	AG04450	lung:	fetal
20	chr12:121790146-121790196	SKMC	muscle:	n/a
21	chr12:121790146-121790196	PFSK-1	brain:	n/a
22	chr12:121790146-121790196	AG09319	gingival:	n/a
23	chr12:121790172-121790222	HAEpiC	amniotic membrane:	n/a
24	chr12:121790172-121790222	HEK293	kidney:	embryo
25	chr12:121790172-121790222	MCF10A-Er-Src	breast:	n/a
26	chr12:121790146-121790196	AG10803	skin:	n/a
27	chr12:121790172-121790222	MCF-7	breast:	n/a
28	chr12:121790172-121790222	AoSMC	blood vessel:	n/a
29	chr12:121790146-121790196	HEK293	kidney:	embryo
30	chr12:121790172-121790222	NHBE	bronchial:	n/a
31	chr12:121790146-121790196	ProgFib	skin:	n/a
32	chr12:121790146-121790196	HAEpiC	amniotic membrane:	n/a
33	chr12:121790172-121790222	HEEpiC	esophagus:	n/a
34	chr12:121790146-121790196	NB4	blood:	n/a
35	chr12:121790146-121790196	Hepatocyte	liver:	n/a
36	chr12:121790172-121790222	BJ	skin:	n/a
37	chr12:121790172-121790222	U87	brain:	n/a
38	chr12:121790172-121790222	SK-N-SH_RA	brain:	n/a
39	chr12:121790172-121790222	HRPEpiC	eye:	n/a
40	chr12:121790172-121790222	AG04449	skin:	fetal
41	chr12:121790146-121790196	U87	brain:	n/a
42	chr12:121790146-121790196	HMEC	breast:	n/a
43	chr12:121790172-121790222	SK-N-SH	brain:	n/a
44	chr12:121790146-121790196	LNCaP	prostate:	n/a
45	chr12:121790172-121790222	Caco-2	colon:	n/a
46	chr12:121790172-121790222	Hela-S3	cervix:	n/a
47	chr12:121790172-121790222	HRE	kidney:	n/a
48	chr12:121790146-121790196	HCT-116	colon:	n/a
49	chr12:121790172-121790222	NB4	blood:	n/a
50	chr12:121790172-121790222	GM12878	blood:	n/a

(count:30 , 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	chr11:119039278..119039934-chr12:121789997..121790830,2	Hela-S3	cervix:
4	chr12:121786049..121792349-chr12:121835999..121841368,18	K562	blood:
5	chr12:121733327..121735828-chr12:121789056..121791412,2	MCF-7	breast:
6	chr12:121733288..121735656-chr12:121790091..121791825,2	K562	blood:
7	chr12:121790096..121790890-chr20:30194856..30195839,2	Hela-S3	cervix:
8	chr12:121646670..121649250-chr12:121789949..121791934,2	K562	blood:
9	chr12:121781138..121784693-chr12:121787374..121790702,7	MCF-7	breast:
10	chr12:121789690..121790388-chr20:47895038..47895618,2	NB4	blood:
11	chr12:121785461..121788491-chr12:121789239..121792486,3	K562	blood:
12	chr12:121784938..121792349-chr12:121835915..121842265,20	K562	blood:
13	chr12:121772223..121776084-chr12:121786669..121790382,4	MCF-7	breast:
14	chr12:121789890..121792277-chr12:121828358..121830273,2	K562	blood:
15	chr12:121782570..121785356-chr12:121788886..121790920,4	K562	blood:
16	chr12:121789890..121791597-chr12:121828770..121830273,2	K562	blood:
17	chr12:121733351..121735289-chr12:121789720..121791843,2	MCF-7	breast:
18	chr12:121789854..121791773-chr12:121828508..121830163,2	MCF-7	breast:
19	chr12:121770480..121773163-chr12:121788922..121791466,2	K562	blood:
20	chr12:121785517..121787632-chr12:121788366..121790709,4	MCF-7	breast:
21	chr12:121790049..121790552-chr5:71615680..71616180,2	NB4	blood:
22	chr12:121789568..121790547-chr22:39714885..39715788,2	Hela-S3	cervix:
23	chr12:121789778..121790626-chr17:56406618..56407135,2	NB4	blood:
24	chr12:121789720..121790412-chr3:73159959..73160589,2	Hela-S3	cervix:
25	chr12:121788188..121792674-chr12:121835209..121840455,13	MCF-7	breast:
26	chr12:121732234..121734700-chr12:121788857..121790730,2	K562	blood:
27	chr10:103124628..103125132-chr12:121789750..121790462,2	Hela-S3	cervix:
28	chr12:121788153..121793367-chr12:121835114..121840699,18	MCF-7	breast:
29	chr12:121789806..121790504-chr12:121837555..121838139,2	HCT-116	colon:
30	chr12:121766782..121769460-chr12:121788559..121790508,3	MCF-7	breast:

No data

Variant related genes	Relation type
ANAPC5	TF binding region
ANAPC5	CpG island
ENSG00000100316	Chromatin interaction
ENSG00000135124	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000222414	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000160703	Chromatin interaction
ENSG00000258435	Chromatin interaction
ENSG00000113048	Chromatin interaction
ENSG00000265148	Chromatin interaction
ENSG00000110931	Chromatin interaction
ENSG00000263764	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000209042	Chromatin interaction
ENSG00000270141	Chromatin interaction
ENSG00000177410	Chromatin interaction
ENSG00000089053	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000170633	Chromatin interaction

rs_ID	r²[population]
rs11065484	1.00[ASN][1000 genomes]
rs12321716	1.00[ASN][1000 genomes]
rs17526121	1.00[ASN][1000 genomes]
rs1963773	1.00[ASN][1000 genomes]
rs28360466	1.00[ASN][1000 genomes]
rs56036638	1.00[ASN][1000 genomes]
rs56067598	1.00[ASN][1000 genomes]
rs56297690	1.00[ASN][1000 genomes]
rs73220266	1.00[ASN][1000 genomes]
rs73220279	1.00[ASN][1000 genomes]
rs73220283	1.00[ASN][1000 genomes]
rs9737637	1.00[ASN][1000 genomes]

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	chr12:121788400-121791000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:121788600-121791000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:121788600-121791000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:121788600-121791400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:121788800-121790200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr12:121788800-121790800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:121788800-121790800	Active TSS	Brain Angular Gyrus	brain
9	chr12:121788800-121790800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr12:121788800-121790800	Active TSS	HMEC	breast
11	chr12:121788800-121790800	Active TSS	NH-A	brain
12	chr12:121788800-121791000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:121788800-121791000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr12:121788800-121791200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr12:121788800-121791200	Active TSS	Psoas Muscle	Psoas
16	chr12:121788800-121791200	Active TSS	HSMM	muscle
17	chr12:121788800-121791400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:121788800-121791400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:121789000-121790600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:121789000-121790800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr12:121789000-121790800	Active TSS	A549	lung
22	chr12:121789000-121790800	Active TSS	Hela-S3	cervix
23	chr12:121789000-121791000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr12:121789000-121791000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:121789000-121791000	Active TSS	Right Atrium	heart
26	chr12:121789000-121791000	Active TSS	HSMMtube	muscle
27	chr12:121789000-121791000	Active TSS	NHLF	lung
28	chr12:121789000-121791200	Active TSS	Rectal Smooth Muscle	rectum
29	chr12:121789000-121791200	Active TSS	Stomach Mucosa	stomach
30	chr12:121789000-121791400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:121789000-121791400	Active TSS	Brain Hippocampus Middle	brain
32	chr12:121789000-121791400	Active TSS	NHDF-Ad	bronchial
33	chr12:121789000-121791400	Active TSS	Osteobl	bone
34	chr12:121789200-121790600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:121789200-121790800	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr12:121789200-121790800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:121789200-121790800	Active TSS	Brain Substantia Nigra	brain
38	chr12:121789200-121790800	Active TSS	Colon Smooth Muscle	Colon
39	chr12:121789200-121790800	Active TSS	Esophagus	oesophagus
40	chr12:121789200-121790800	Active TSS	Fetal Kidney	kidney
41	chr12:121789200-121790800	Active TSS	Dnd41	blood
42	chr12:121789200-121790800	Active TSS	GM12878-XiMat	blood
43	chr12:121789200-121790800	Active TSS	HUVEC	blood vessel
44	chr12:121789200-121790800	Active TSS	NHEK	skin
45	chr12:121789200-121791000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:121789200-121791000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:121789200-121791000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:121789200-121791000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:121789200-121791000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:121789200-121791000	Active TSS	Primary T helper naive cells from peripheral blood	blood

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