Variant report

Variant	rs56835868
Chromosome Location	chr12:122751791-122751792
allele	A/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	POLR2A	chr12:122750073-122751848	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:122750455-122751826	GM18505	blood:	n/a	n/a
3	POLR2A	chr12:122750397-122751882	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr12:122750210-122751962	HepG2	liver:	n/a	n/a
5	CTCF	chr12:122750896-122751803	K562	blood:	n/a	n/a
6	POLR2A	chr12:122750271-122751921	GM12891	blood:	n/a	n/a
7	POLR2A	chr12:122750565-122752045	U87	brain:	n/a	n/a
8	JUND	chr12:122750555-122751853	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr12:122751441-122751806	GM12878	blood:	n/a	n/a
10	ESR1	chr12:122751555-122751955	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr12:122750357-122751876	K562	blood:	n/a	n/a
12	MXI1	chr12:122750503-122751957	Hela-S3	cervix:	n/a	chr12:122751044-122751053 chr12:122751028-122751037
13	POLR2A	chr12:122750530-122751855	MCF-7	breast:	n/a	n/a
14	TBP	chr12:122751518-122751843	GM12878	blood:	n/a	n/a
15	CUX1	chr12:122751700-122751921	K562	blood:	n/a	n/a
16	SIX5	chr12:122750553-122751967	A549	lung:	n/a	chr12:122751885-122751894
17	CTCF	chr12:122751740-122751890	HVMF	connective:	n/a	n/a
18	ESR1	chr12:122751457-122751888	ECC-1	luminal epithelium:	n/a	n/a
19	NFIC	chr12:122750429-122751849	GM12878	blood:	n/a	n/a
20	MXI1	chr12:122749988-122752152	SK-N-SH	brain:	n/a	chr12:122751044-122751053 chr12:122751028-122751037
21	EP300	chr12:122751687-122751834	K562	blood:	n/a	n/a
22	GTF3C2	chr12:122751140-122751801	Hela-S3	cervix:	n/a	n/a
23	RAD21	chr12:122751477-122751823	HepG2	liver:	n/a	n/a
24	POLR2A	chr12:122750737-122751894	U87	brain:	n/a	n/a
25	CTCF	chr12:122751449-122751911	K562	blood:	n/a	n/a
26	POLR2A	chr12:122750529-122751810	MCF10A-Er-Src	breast:	n/a	n/a
27	HCFC1	chr12:122750329-122751987	Hela-S3	cervix:	n/a	n/a
28	HA-E2F1	chr12:122750821-122751806	MCF-7	breast:	n/a	n/a
29	POLR2A	chr12:122750276-122752120	PANC-1	pancreas:	n/a	n/a
30	CTCF	chr12:122751368-122751870	MCF-7	breast:	n/a	n/a
31	MAX	chr12:122750583-122751878	Hela-S3	cervix:	n/a	chr12:122751025-122751038 chr12:122751027-122751036 chr12:122751025-122751038 chr12:122751027-122751036 chr12:122751027-122751036
32	JUN	chr12:122750241-122752173	K562	blood:	n/a	n/a
33	POLR2A	chr12:122750619-122751812	HL-60	blood:	n/a	n/a
34	SIN3AK20	chr12:122750449-122751996	HCT-116	colon:	n/a	n/a
35	ZNF384	chr12:122750885-122751931	K562	blood:	n/a	n/a
36	MXI1	chr12:122750198-122751805	IMR90	lung:	n/a	chr12:122751044-122751053 chr12:122751028-122751037
37	POLR2A	chr12:122750571-122751945	U87	brain:	n/a	n/a
38	RUNX3	chr12:122750457-122751809	GM12878	blood:	n/a	chr12:122750757-122750774
39	POLR2A	chr12:122750603-122751913	PANC-1	pancreas:	n/a	n/a
40	MAX	chr12:122750336-122751807	HCT-116	colon:	n/a	chr12:122751025-122751038 chr12:122751027-122751036 chr12:122751025-122751038 chr12:122751027-122751036 chr12:122751027-122751036
41	MTA3	chr12:122750225-122752042	GM12878	blood:	n/a	n/a
42	SIN3AK20	chr12:122750355-122751839	HCT-116	colon:	n/a	n/a
43	MXI1	chr12:122750602-122751968	GM12878	blood:	n/a	chr12:122751044-122751053 chr12:122751028-122751037
44	CTCF	chr12:122751660-122751810	HCM	heart:	n/a	n/a
45	CTCF	chr12:122751760-122751910	K562	blood:	n/a	n/a
46	ELF1	chr12:122750437-122751918	HCT-116	colon:	n/a	chr12:122751072-122751083
47	ZNF384	chr12:122750934-122752095	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122708152..122712753-chr12:122748620..122752557,8	K562	blood:
2	chr12:122459684..122462243-chr12:122749527..122751932,2	MCF-7	breast:
3	chr12:122750925..122753898-chr12:123011768..123013408,2	MCF-7	breast:
4	chr12:122748134..122753515-chr12:122760156..122766963,8	K562	blood:
5	chr12:122688160..122690771-chr12:122750336..122752523,2	MCF-7	breast:
6	chr12:122710760..122712392-chr12:122751088..122752946,2	MCF-7	breast:
7	chr12:122750460..122753402-chr12:122760156..122762778,3	K562	blood:
8	chr12:122707649..122712350-chr12:122748538..122752681,8	K562	blood:
9	chr12:122749733..122752495-chr12:122984163..122985921,2	MCF-7	breast:

Variant related genes	Relation type
VPS33A	TF binding region
ENSG00000256861	TF binding region
ENSG00000184445	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000176383	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000110987	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56219573	0.91[AFR][1000 genomes]
rs60317410	0.91[AFR][1000 genomes]
rs71082959	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122749400-122752000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr12:122749600-122751800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr12:122749600-122751800	Active TSS	Thymus	Thymus
4	chr12:122749600-122752000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:122749800-122751800	Active TSS	K562	blood
6	chr12:122749800-122752000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:122749800-122752000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr12:122749800-122752000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr12:122749800-122752000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:122749800-122752200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:122750000-122751800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:122750000-122751800	Active TSS	Fetal Brain Male	brain
13	chr12:122750000-122751800	Active TSS	Fetal Intestine Large	intestine
14	chr12:122750000-122751800	Active TSS	Fetal Intestine Small	intestine
15	chr12:122750000-122751800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:122750000-122751800	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr12:122750000-122751800	Active TSS	A549	lung
18	chr12:122750000-122751800	Active TSS	HSMM	muscle
19	chr12:122750000-122751800	Active TSS	HSMMtube	muscle
20	chr12:122750000-122752000	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:122750000-122752000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:122750000-122752000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:122750000-122752000	Active TSS	Right Atrium	heart
24	chr12:122750000-122752200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:122750200-122751800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:122750200-122751800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr12:122750200-122751800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:122750200-122751800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:122750200-122751800	Active TSS	Brain Anterior Caudate	brain
30	chr12:122750200-122751800	Active TSS	Esophagus	oesophagus
31	chr12:122750200-122751800	Active TSS	Fetal Kidney	kidney
32	chr12:122750200-122751800	Active TSS	Left Ventricle	heart
33	chr12:122750200-122751800	Active TSS	Pancreas	Pancrea
34	chr12:122750200-122751800	Active TSS	Psoas Muscle	Psoas
35	chr12:122750200-122751800	Active TSS	HMEC	breast
36	chr12:122750200-122751800	Active TSS	NHDF-Ad	bronchial
37	chr12:122750200-122752000	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr12:122750200-122752000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr12:122750200-122752000	Active TSS	H9 Cell Line	embryonic stem cell
40	chr12:122750200-122752000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:122750200-122752000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:122750200-122752000	Active TSS	Right Ventricle	heart
43	chr12:122750400-122751800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:122750400-122751800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:122750400-122751800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:122750400-122751800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:122750400-122751800	Active TSS	Aorta	Aorta
48	chr12:122750400-122751800	Active TSS	Brain Angular Gyrus	brain
49	chr12:122750400-122751800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr12:122750400-122751800	Active TSS	Colon Smooth Muscle	Colon

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