Variant report

Variant	rs79961212
Chromosome Location	chr12:42631104-42631105
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	chr12:42631033-42632808	GM12878	blood:	n/a	n/a
2	CHD2	chr12:42631070-42631506	HepG2	liver:	n/a	chr12:42631292-42631302
3	PML	chr12:42630923-42631592	GM12878	blood:	n/a	n/a
4	TCF7L2	chr12:42630852-42631482	HEK293	kidney:	n/a	n/a
5	MAX	chr12:42631035-42632996	A549	lung:	n/a	chr12:42632173-42632184 chr12:42632571-42632581
6	CTCF	chr12:42630783-42632076	A549	lung:	n/a	chr12:42631566-42631579 chr12:42631291-42631304
7	POLR2A	chr12:42631102-42632473	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr12:42631051-42632656	H1-neurons	neurons:	n/a	n/a
9	RFX5	chr12:42631003-42631623	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr12:42630994-42632078	SK-N-SH	brain:	n/a	chr12:42631566-42631579 chr12:42631291-42631304
11	ETS1	chr12:42631091-42631578	K562	blood:	n/a	chr12:42631324-42631337
12	RCOR1	chr12:42631010-42631494	K562	blood:	n/a	n/a
13	REST	chr12:42630951-42632995	H1-neurons	neurons:	n/a	chr12:42632239-42632249 chr12:42631278-42631291 chr12:42631854-42631867
14	UBTF	chr12:42630996-42632766	K562	blood:	n/a	n/a
15	TBL1XR1	chr12:42630964-42631465	GM12878	blood:	n/a	n/a
16	RCOR1	chr12:42631076-42631607	K562	blood:	n/a	n/a
17	MAX	chr12:42631093-42632703	NB4	blood:	n/a	chr12:42632173-42632184 chr12:42632571-42632581
18	EP300	chr12:42630881-42631539	K562	blood:	n/a	n/a
19	POLR2A	chr12:42630956-42631576	K562	blood:	n/a	n/a
20	ZBTB7A	chr12:42631040-42632023	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr12:42631015-42631621	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:42631096-42631541	PANC-1	pancreas:	n/a	n/a
23	TBP	chr12:42631080-42633012	K562	blood:	n/a	n/a
24	MXI1	chr12:42630820-42633569	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr12:42631079-42633464	GM12891	blood:	n/a	n/a
26	TAF1	chr12:42631044-42632834	ECC-1	luminal epithelium:	n/a	n/a
27	ELF1	chr12:42631044-42631931	GM12878	blood:	n/a	chr12:42631861-42631873
28	BHLHE40	chr12:42631080-42631577	K562	blood:	n/a	chr12:42631556-42631572
29	ELF1	chr12:42631104-42631733	MCF-7	breast:	n/a	n/a
30	TEAD4	chr12:42631062-42631604	K562	blood:	n/a	n/a
31	TCF12	chr12:42631068-42631660	A549	lung:	n/a	n/a
32	TCF7L2	chr12:42631089-42632825	PANC-1	pancreas:	n/a	n/a
33	MXI1	chr12:42630545-42632688	IMR90	lung:	n/a	n/a
34	SMC3	chr12:42630938-42632069	SK-N-SH	brain:	n/a	chr12:42631565-42631573
35	MXI1	chr12:42631067-42632738	HepG2	liver:	n/a	n/a
36	ZNF263	chr12:42631068-42631561	HEK293-T-REx	kidney:	n/a	chr12:42631291-42631300
37	RAD21	chr12:42631077-42631913	H1-hESC	embryonic stem cell:	n/a	n/a
38	RUNX3	chr12:42630993-42631570	GM12878	blood:	n/a	chr12:42631221-42631236
39	HCFC1	chr12:42630358-42633508	Hela-S3	cervix:	n/a	n/a
40	NR2F2	chr12:42630999-42631608	K562	blood:	n/a	n/a
41	CEBPB	chr12:42631098-42631637	Hela-S3	cervix:	n/a	n/a
42	EP300	chr12:42631075-42632809	ECC-1	luminal epithelium:	n/a	chr12:42632109-42632125 chr12:42632121-42632130
43	POLR2A	chr12:42630968-42632874	PBDE	blood:	n/a	n/a
44	KAP1	chr12:42631061-42631451	HEK293	kidney:	n/a	n/a
45	ZBTB7A	chr12:42631060-42631868	K562	blood:	n/a	n/a
46	POLR2A	chr12:42631058-42632725	H1-neurons	neurons:	n/a	n/a
47	CUX1	chr12:42631073-42631454	K562	blood:	n/a	chr12:42631245-42631254
48	ZBTB7A	chr12:42630954-42631948	ECC-1	luminal epithelium:	n/a	n/a
49	TCF12	chr12:42631020-42631611	ECC-1	luminal epithelium:	n/a	n/a
50	RCOR1	chr12:42630781-42631638	IMR90	lung:	n/a	n/a

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	chr12:42630585..42631302-chr8:144126589..144127131,2	MCF-7	breast:
10	chr1:45805626..45806419-chr12:42631018..42631667,2	Hela-S3	cervix:
11	chr12:42536195..42540644-chr12:42629191..42634148,6	K562	blood:
12	chr12:42604514..42606736-chr12:42630600..42632682,2	MCF-7	breast:
13	chr12:42552974..42555837-chr12:42630405..42632767,3	MCF-7	breast:

Variant related genes	Relation type
PPHLN1	TF binding region
RN7SL10P	TF binding region
ENSG00000139168	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000151233	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000015153	Chromatin interaction
ENSG00000134283	Chromatin interaction
ENSG00000241710	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42628600-42631200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:42629200-42633000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:42629600-42631400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:42629600-42632600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr12:42629800-42632400	Active TSS	NHLF	lung
6	chr12:42629800-42632800	Active TSS	Right Atrium	heart
7	chr12:42629800-42632800	Active TSS	GM12878-XiMat	blood
8	chr12:42630000-42631200	Weak transcription	Small Intestine	intestine
9	chr12:42630000-42632600	Active TSS	Brain Angular Gyrus	brain
10	chr12:42630200-42631200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:42630200-42632400	Active TSS	HMEC	breast
12	chr12:42630200-42632600	Active TSS	HSMMtube	muscle
13	chr12:42630200-42632800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:42630400-42631200	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr12:42630400-42631200	Flanking Active TSS	HUVEC	blood vessel
16	chr12:42630400-42632600	Active TSS	Muscle Satellite Cultured Cells	--
17	chr12:42630400-42632600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:42630400-42632600	Active TSS	A549	lung
19	chr12:42630400-42632800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:42630600-42631200	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr12:42630600-42631200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr12:42630600-42631200	Flanking Active TSS	Fetal Brain Female	brain
23	chr12:42630600-42631200	Flanking Active TSS	Fetal Kidney	kidney
24	chr12:42630600-42631200	Flanking Active TSS	Dnd41	blood
25	chr12:42630600-42631400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr12:42630600-42631400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:42630600-42631400	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr12:42630600-42631400	Flanking Active TSS	Liver	Liver
29	chr12:42630600-42631400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr12:42630600-42632400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:42630600-42632400	Active TSS	Brain Germinal Matrix	brain
32	chr12:42630600-42632400	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr12:42630600-42632400	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr12:42630600-42632600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:42630600-42632600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:42630600-42632600	Active TSS	Fetal Intestine Large	intestine
37	chr12:42630600-42632600	Active TSS	Stomach Smooth Muscle	stomach
38	chr12:42630600-42632600	Active TSS	K562	blood
39	chr12:42630600-42632800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr12:42630600-42632800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:42630600-42632800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:42630600-42632800	Active TSS	Brain Cingulate Gyrus	brain
43	chr12:42630600-42633000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:42630600-42633200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:42630600-42633200	Active TSS	Brain Anterior Caudate	brain
46	chr12:42630600-42633200	Active TSS	NHDF-Ad	bronchial
47	chr12:42630800-42631200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
48	chr12:42630800-42631200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
49	chr12:42630800-42631200	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr12:42630800-42631200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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