Variant report

Variant	rs570093992
Chromosome Location	chr12:42632552-42632553
allele	C/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	POLR2A	chr12:42631033-42632808	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:42631827-42632552	Hela-S3	cervix:	n/a	n/a
3	EGR1	chr12:42631885-42632777	ECC-1	luminal epithelium:	n/a	chr12:42632568-42632581 chr12:42632083-42632097 chr12:42632572-42632582
4	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
5	YY1	chr12:42632210-42632784	SK-N-SH_RA	brain:	n/a	chr12:42632224-42632238
6	HDAC2	chr12:42632086-42632697	MCF-7	breast:	n/a	n/a
7	TCF7L2	chr12:42631216-42632719	HCT-116	colon:	n/a	n/a
8	POLR2A	chr12:42631218-42632894	HEK293	kidney:	n/a	n/a
9	POLR2A	chr12:42631199-42632638	A549	lung:	n/a	n/a
10	TCF7L2	chr12:42632017-42632815	MCF-7	breast:	n/a	n/a
11	POLR2A	chr12:42631180-42632651	Gliobla	brain:	n/a	n/a
12	POLR2A	chr12:42631153-42632756	GM19193	blood:	n/a	n/a
13	MAX	chr12:42631035-42632996	A549	lung:	n/a	chr12:42632173-42632184 chr12:42632571-42632581
14	USF2	chr12:42631842-42632773	GM12878	blood:	n/a	chr12:42632198-42632214 chr12:42632174-42632183 chr12:42632173-42632184 chr12:42632175-42632184 chr12:42632172-42632185 chr12:42632174-42632183
15	HMGN3	chr12:42631172-42632566	K562	blood:	n/a	n/a
16	CHD2	chr12:42631140-42632927	Hela-S3	cervix:	n/a	chr12:42631292-42631302 chr12:42631852-42631862
17	ZMIZ1	chr12:42631892-42632600	K562	blood:	n/a	n/a
18	POLR2A	chr12:42632061-42632629	GM12891	blood:	n/a	n/a
19	CHD2	chr12:42631157-42632706	GM12878	blood:	n/a	chr12:42631292-42631302 chr12:42631852-42631862
20	POLR2A	chr12:42631051-42632656	H1-neurons	neurons:	n/a	n/a
21	MYC	chr12:42631171-42632815	K562	blood:	n/a	chr12:42632173-42632184 chr12:42632571-42632581
22	POLR2A	chr12:42631127-42632780	GM18505	blood:	n/a	n/a
23	RCOR1	chr12:42631879-42632736	K562	blood:	n/a	n/a
24	POLR2A	chr12:42631131-42632689	A549	lung:	n/a	n/a
25	STAT1	chr12:42632284-42632560	GM12878	blood:	n/a	n/a
26	YY1	chr12:42631614-42632822	GM12878	blood:	n/a	chr12:42631839-42631850 chr12:42632011-42632020 chr12:42632224-42632238
27	CCNT2	chr12:42631197-42632552	K562	blood:	n/a	n/a
28	STAT5A	chr12:42632201-42633036	GM12878	blood:	n/a	n/a
29	REST	chr12:42630951-42632995	H1-neurons	neurons:	n/a	chr12:42632239-42632249 chr12:42631278-42631291 chr12:42631854-42631867
30	POLR2A	chr12:42631205-42632764	GM15510	blood:	n/a	n/a
31	SUZ12	chr12:42632270-42632712	H1-hESC	embryonic stem cell:	n/a	n/a
32	YY1	chr12:42632430-42632758	GM12892	blood:	n/a	n/a
33	UBTF	chr12:42630996-42632766	K562	blood:	n/a	n/a
34	MAX	chr12:42631936-42632823	SK-N-SH	brain:	n/a	chr12:42632173-42632184 chr12:42632571-42632581
35	MTA3	chr12:42632091-42632897	GM12878	blood:	n/a	n/a
36	MAX	chr12:42631249-42632617	HepG2	liver:	n/a	chr12:42632173-42632184 chr12:42632571-42632581
37	POLR2A	chr12:42631157-42633000	GM19099	blood:	n/a	n/a
38	RCOR1	chr12:42631856-42632708	HepG2	liver:	n/a	n/a
39	POLR2A	chr12:42631245-42632608	HUVEC	blood vessel:	n/a	n/a
40	GTF2F1	chr12:42632331-42632934	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr12:42631223-42632718	K562	blood:	n/a	n/a
42	POLR2A	chr12:42631875-42632786	GM12892	blood:	n/a	n/a
43	RFX5	chr12:42632086-42632721	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:42631603-42632711	GM12878	blood:	n/a	n/a
45	MAX	chr12:42631162-42632810	GM12878	blood:	n/a	chr12:42632173-42632184 chr12:42632571-42632581
46	MAX	chr12:42631093-42632703	NB4	blood:	n/a	chr12:42632173-42632184 chr12:42632571-42632581
47	BHLHE40	chr12:42631942-42632907	HepG2	liver:	n/a	chr12:42632198-42632214 chr12:42632174-42632183 chr12:42632175-42632184 chr12:42632172-42632185 chr12:42632174-42632183
48	POLR2A	chr12:42631166-42632624	GM12891	blood:	n/a	n/a
49	POLR2A	chr12:42632064-42632633	A549	lung:	n/a	n/a
50	POLR2A	chr12:42631170-42632773	GM18951	blood:	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	chr1:115322980..115323593-chr12:42632513..42633232,2	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	chr12:42631475..42633841-chr12:42740722..42742775,2	K562	blood:
9	chr12:42537005..42540223-chr12:42630265..42633071,6	MCF-7	breast:
10	chr12:42536195..42540644-chr12:42629191..42634148,6	K562	blood:
11	chr12:42631690..42633240-chr12:42634536..42637417,2	MCF-7	breast:
12	chr12:42604514..42606736-chr12:42630600..42632682,2	MCF-7	breast:
13	chr12:42631625..42634573-chr12:42719114..42721447,2	K562	blood:
14	chr12:42552974..42555837-chr12:42630405..42632767,3	MCF-7	breast:

Variant related genes	Relation type
RN7SL10P	TF binding region
YAF2	TF binding region
ENSG00000252917	Chromatin interaction
ENSG00000015153	Chromatin interaction
ENSG00000151233	Chromatin interaction
ENSG00000052723	Chromatin interaction
ENSG00000139168	Chromatin interaction
ENSG00000241710	Chromatin interaction
ENSG00000134283	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	chr12:42629600-42632600	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr12:42629800-42632800	Active TSS	Right Atrium	heart
4	chr12:42629800-42632800	Active TSS	GM12878-XiMat	blood
5	chr12:42630000-42632600	Active TSS	Brain Angular Gyrus	brain
6	chr12:42630200-42632600	Active TSS	HSMMtube	muscle
7	chr12:42630200-42632800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:42630400-42632600	Active TSS	Muscle Satellite Cultured Cells	--
9	chr12:42630400-42632600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:42630400-42632600	Active TSS	A549	lung
11	chr12:42630400-42632800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:42630600-42632600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:42630600-42632600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:42630600-42632600	Active TSS	Fetal Intestine Large	intestine
15	chr12:42630600-42632600	Active TSS	Stomach Smooth Muscle	stomach
16	chr12:42630600-42632600	Active TSS	K562	blood
17	chr12:42630600-42632800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr12:42630600-42632800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:42630600-42632800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:42630600-42632800	Active TSS	Brain Cingulate Gyrus	brain
21	chr12:42630600-42633000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:42630600-42633200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:42630600-42633200	Active TSS	Brain Anterior Caudate	brain
24	chr12:42630600-42633200	Active TSS	NHDF-Ad	bronchial
25	chr12:42630800-42632600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr12:42630800-42632600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr12:42630800-42632600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:42630800-42632600	Active TSS	Fetal Muscle Leg	muscle
29	chr12:42630800-42632600	Active TSS	Hela-S3	cervix
30	chr12:42630800-42632600	Active TSS	HepG2	liver
31	chr12:42630800-42632600	Active TSS	NHEK	skin
32	chr12:42630800-42632600	Active TSS	Osteobl	bone
33	chr12:42630800-42632800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:42630800-42632800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr12:42630800-42632800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:42630800-42632800	Active TSS	Brain Hippocampus Middle	brain
37	chr12:42630800-42633000	Active TSS	Fetal Intestine Small	intestine
38	chr12:42630800-42633000	Active TSS	HSMM	muscle
39	chr12:42631000-42632600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr12:42631000-42632600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:42631000-42632600	Active TSS	Placenta Amnion	Placenta Amnion
42	chr12:42631000-42632800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:42631000-42632800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:42631000-42632800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
45	chr12:42631000-42632800	Active TSS	Esophagus	oesophagus
46	chr12:42631000-42632800	Active TSS	Left Ventricle	heart
47	chr12:42631000-42632800	Active TSS	Lung	lung
48	chr12:42631000-42632800	Active TSS	Ovary	ovary
49	chr12:42631000-42632800	Active TSS	Pancreas	Pancrea
50	chr12:42631000-42632800	Active TSS	Psoas Muscle	Psoas

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