Variant report

Variant	rs551717010
Chromosome Location	chr12:42631334-42631335
allele	G/T
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	TCF12	chr12:42631293-42631528	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr12:42631208-42631587	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:42631033-42632808	GM12878	blood:	n/a	n/a
4	CTCF	chr12:42631223-42631606	MCF-7	breast:	n/a	chr12:42631566-42631579 chr12:42631291-42631304
5	MYC	chr12:42631146-42631700	MCF-7	breast:	n/a	n/a
6	BHLHE40	chr12:42631211-42632605	GM12878	blood:	n/a	chr12:42632198-42632214 chr12:42632174-42632183 chr12:42631556-42631572 chr12:42632175-42632184 chr12:42632172-42632185 chr12:42632174-42632183 chr12:42631564-42631580
7	ZKSCAN1	chr12:42631173-42631575	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr12:42631070-42631506	HepG2	liver:	n/a	chr12:42631292-42631302
9	GABPA	chr12:42631209-42631552	K562	blood:	n/a	n/a
10	YY1	chr12:42631161-42631596	GM12878	blood:	n/a	n/a
11	FOXP2	chr12:42631214-42631584	PFSK-1	brain:	n/a	n/a
12	TCF7L2	chr12:42631216-42632719	HCT-116	colon:	n/a	n/a
13	POLR2A	chr12:42631218-42632894	HEK293	kidney:	n/a	n/a
14	POLR2A	chr12:42631199-42632638	A549	lung:	n/a	n/a
15	POLR2A	chr12:42631180-42632651	Gliobla	brain:	n/a	n/a
16	POLR2A	chr12:42631153-42632756	GM19193	blood:	n/a	n/a
17	CTCF	chr12:42631233-42631593	GM12891	blood:	n/a	chr12:42631566-42631579 chr12:42631291-42631304
18	PML	chr12:42630923-42631592	GM12878	blood:	n/a	n/a
19	CTCF	chr12:42631217-42631629	K562	blood:	n/a	chr12:42631566-42631579 chr12:42631291-42631304
20	CTCF	chr12:42631327-42631489	HUVEC	blood vessel:	n/a	n/a
21	MYBL2	chr12:42631138-42631473	HepG2	liver:	n/a	n/a
22	CTCF	chr12:42631244-42631583	MCF-7	breast:	n/a	chr12:42631566-42631579 chr12:42631291-42631304
23	FOXA2	chr12:42631257-42632376	A549	lung:	n/a	n/a
24	ZBTB7A	chr12:42631142-42631547	HepG2	liver:	n/a	n/a
25	TCF7L2	chr12:42630852-42631482	HEK293	kidney:	n/a	n/a
26	MAX	chr12:42631035-42632996	A549	lung:	n/a	chr12:42632173-42632184 chr12:42632571-42632581
27	HMGN3	chr12:42631172-42632566	K562	blood:	n/a	n/a
28	CHD2	chr12:42631140-42632927	Hela-S3	cervix:	n/a	chr12:42631292-42631302 chr12:42631852-42631862
29	TAF1	chr12:42631206-42631556	SK-N-SH	brain:	n/a	n/a
30	ZNF143	chr12:42631186-42631590	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr12:42631158-42631592	Hela-S3	cervix:	n/a	n/a
32	ETS1	chr12:42631269-42631584	K562	blood:	n/a	chr12:42631324-42631337
33	ELK1	chr12:42631242-42631594	GM12878	blood:	n/a	n/a
34	CTCF	chr12:42630783-42632076	A549	lung:	n/a	chr12:42631566-42631579 chr12:42631291-42631304
35	SMC3	chr12:42631267-42631479	K562	blood:	n/a	n/a
36	ELF1	chr12:42631220-42631538	K562	blood:	n/a	n/a
37	JUND	chr12:42631203-42631858	A549	lung:	n/a	n/a
38	CHD2	chr12:42631157-42632706	GM12878	blood:	n/a	chr12:42631292-42631302 chr12:42631852-42631862
39	POLR2A	chr12:42631102-42632473	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr12:42631051-42632656	H1-neurons	neurons:	n/a	n/a
41	MYC	chr12:42631171-42632815	K562	blood:	n/a	chr12:42632173-42632184 chr12:42632571-42632581
42	RAD21	chr12:42631302-42631582	K562	blood:	n/a	n/a
43	CTCF	chr12:42631247-42631570	GM10266	blood:	n/a	chr12:42631291-42631304
44	RAD21	chr12:42631223-42631943	IMR90	lung:	n/a	n/a
45	GATA3	chr12:42631190-42631583	T-47D	breast:	n/a	n/a
46	RFX5	chr12:42631003-42631623	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr12:42630994-42632078	SK-N-SH	brain:	n/a	chr12:42631566-42631579 chr12:42631291-42631304
48	POLR2A	chr12:42631127-42632780	GM18505	blood:	n/a	n/a
49	ETS1	chr12:42631091-42631578	K562	blood:	n/a	chr12:42631324-42631337
50	CTCF	chr12:42631271-42631560	Hela-S3	cervix:	n/a	chr12:42631291-42631304

No.	Distal block	Cell Line	Cell type
1	chr12:42629683..42634871-chr12:42717173..42721669,10	K562	blood:
2	chr12:42629596..42634057-chr12:42635851..42641617,6	MCF-7	breast:
3	chr12:42629382..42633215-chr12:42724719..42729481,4	MCF-7	breast:
4	chr12:42630581..42632543-chr12:42717454..42720310,3	MCF-7	breast:
5	chr12:42602650..42606559-chr12:42628357..42633249,5	MCF-7	breast:
6	chr12:42536858..42540358-chr12:42630016..42633914,10	MCF-7	breast:
7	chr12:42535865..42541158-chr12:42630084..42634162,10	K562	blood:
8	chr12:42537005..42540223-chr12:42630265..42633071,6	MCF-7	breast:
9	chr1:45805626..45806419-chr12:42631018..42631667,2	Hela-S3	cervix:
10	chr12:42536195..42540644-chr12:42629191..42634148,6	K562	blood:
11	chr12:42604514..42606736-chr12:42630600..42632682,2	MCF-7	breast:
12	chr12:42552974..42555837-chr12:42630405..42632767,3	MCF-7	breast:

Variant related genes	Relation type
RN7SL10P	TF binding region
YAF2	TF binding region
PPHLN1	TF binding region
ENSG00000139168	Chromatin interaction
ENSG00000134283	Chromatin interaction
ENSG00000241710	Chromatin interaction
ENSG00000015153	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000151233	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv826351	chr12:42584218-42676281	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv826352	chr12:42593124-42675255	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3324521	chr12:42630510-42633558	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
5	esv3414520	chr12:42630935-42633283	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42629200-42633000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:42629600-42631400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:42629600-42632600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr12:42629800-42632400	Active TSS	NHLF	lung
5	chr12:42629800-42632800	Active TSS	Right Atrium	heart
6	chr12:42629800-42632800	Active TSS	GM12878-XiMat	blood
7	chr12:42630000-42632600	Active TSS	Brain Angular Gyrus	brain
8	chr12:42630200-42632400	Active TSS	HMEC	breast
9	chr12:42630200-42632600	Active TSS	HSMMtube	muscle
10	chr12:42630200-42632800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:42630400-42632600	Active TSS	Muscle Satellite Cultured Cells	--
12	chr12:42630400-42632600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:42630400-42632600	Active TSS	A549	lung
14	chr12:42630400-42632800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:42630600-42631400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr12:42630600-42631400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:42630600-42631400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr12:42630600-42631400	Flanking Active TSS	Liver	Liver
19	chr12:42630600-42631400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr12:42630600-42632400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:42630600-42632400	Active TSS	Brain Germinal Matrix	brain
22	chr12:42630600-42632400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr12:42630600-42632400	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr12:42630600-42632600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:42630600-42632600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:42630600-42632600	Active TSS	Fetal Intestine Large	intestine
27	chr12:42630600-42632600	Active TSS	Stomach Smooth Muscle	stomach
28	chr12:42630600-42632600	Active TSS	K562	blood
29	chr12:42630600-42632800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr12:42630600-42632800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:42630600-42632800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:42630600-42632800	Active TSS	Brain Cingulate Gyrus	brain
33	chr12:42630600-42633000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:42630600-42633200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:42630600-42633200	Active TSS	Brain Anterior Caudate	brain
36	chr12:42630600-42633200	Active TSS	NHDF-Ad	bronchial
37	chr12:42630800-42631400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr12:42630800-42631400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr12:42630800-42631400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr12:42630800-42631400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr12:42630800-42631400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:42630800-42631400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr12:42630800-42632400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr12:42630800-42632400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:42630800-42632400	Active TSS	Primary T cells fromperipheralblood	blood
46	chr12:42630800-42632400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:42630800-42632400	Active TSS	Colonic Mucosa	Colon
48	chr12:42630800-42632400	Active TSS	Fetal Stomach	stomach
49	chr12:42630800-42632400	Active TSS	Fetal Thymus	thymus
50	chr12:42630800-42632600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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