Variant report

Variant	rs576580429
Chromosome Location	chr12:49663328-49663329
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:49662113-49664599	U87	brain:	n/a	n/a
2	POLR2A	chr12:49663083-49663839	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:49662981-49663677	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr12:49663129-49663779	A549	lung:	n/a	n/a
5	POLR2A	chr12:49663132-49663862	GM12891	blood:	n/a	n/a
6	POLR2A	chr12:49662286-49666070	K562	blood:	n/a	n/a
7	POLR2A	chr12:49662974-49663821	K562	blood:	n/a	n/a
8	MYC	chr12:49663033-49663413	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr12:49663057-49663864	GM12891	blood:	n/a	n/a
10	POLR2A	chr12:49658351-49664605	U87	brain:	n/a	n/a
11	POLR2A	chr12:49663011-49663576	GM12892	blood:	n/a	n/a
12	POLR2A	chr12:49658001-49664653	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr12:49657862-49669371	K562	blood:	n/a	n/a
14	POLR2A	chr12:49663187-49663563	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:49662926-49663965	GM12878	blood:	n/a	n/a
16	PBX3	chr12:49663006-49663426	SK-N-SH	brain:	n/a	n/a
17	TCF12	chr12:49663228-49663423	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:49663210-49663733	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:49663031-49663892	GM12892	blood:	n/a	n/a
20	POLR2A	chr12:49663192-49663458	A549	lung:	n/a	n/a
21	POLR2A	chr12:49663172-49663677	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr12:49663009-49663979	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:49663074-49663704	HepG2	liver:	n/a	n/a
24	ZBTB33	chr12:49663092-49663703	K562	blood:	n/a	n/a
25	FOS	chr12:49662316-49663348	MCF10A-Er-Src	breast:	n/a	chr12:49662512-49662524 chr12:49662520-49662527 chr12:49662519-49662527
26	POLR2A	chr12:49663181-49663426	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:49663062-49664038	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr12:49663037-49663833	GM12892	blood:	n/a	n/a
29	POLR2A	chr12:49663154-49663762	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr12:49663026-49664560	Hela-S3	cervix:	n/a	n/a
31	HEY1	chr12:49662207-49664643	K562	blood:	n/a	n/a
32	POLR2A	chr12:49658323-49670206	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr12:49663033-49664583	U87	brain:	n/a	n/a
34	POLR2A	chr12:49663128-49663462	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr12:49663002-49664417	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr12:49662129-49664643	K562	blood:	n/a	n/a
37	FOS	chr12:49662331-49663375	MCF10A-Er-Src	breast:	n/a	chr12:49662512-49662524 chr12:49662520-49662527 chr12:49662519-49662527
38	HEY1	chr12:49663082-49663787	K562	blood:	n/a	n/a
39	EP300	chr12:49663166-49663507	GM12878	blood:	n/a	n/a
40	POLR2A	chr12:49662973-49663856	GM12892	blood:	n/a	n/a
41	POLR2A	chr12:49662978-49663890	GM12891	blood:	n/a	n/a
42	POLR2A	chr12:49663034-49663769	H1-hESC	embryonic stem cell:	n/a	n/a
43	POU2F2	chr12:49663117-49663544	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:49663177-49663771	A549	lung:	n/a	n/a
45	POLR2A	chr12:49663202-49663447	A549	lung:	n/a	n/a
46	POLR2A	chr12:49662267-49664610	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr12:49662825-49663508	HepG2	liver:	n/a	n/a
48	POLR2A	chr12:49662218-49666261	K562	blood:	n/a	n/a
49	POLR2A	chr12:49663306-49663401	MCF-7	breast:	n/a	n/a
50	POLR2A	chr12:49662320-49666054	A549	lung:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49656742..49663815-chr12:49736558..49745017,19	MCF-7	breast:
2	chr12:49523107..49527860-chr12:49656151..49664210,14	MCF-7	breast:
3	chr12:49533073..49535795-chr12:49661700..49663392,2	K562	blood:
4	chr12:49448896..49462070-chr12:49656751..49663992,28	K562	blood:
5	chr12:49462240..49465825-chr12:49663317..49667869,4	K562	blood:
6	chr12:49661105..49664061-chr17:56709024..56710621,2	MCF-7	breast:
7	chr12:49449335..49458365-chr12:49656751..49666981,25	K562	blood:
8	chr12:49660927..49665723-chr12:49685096..49688729,4	MCF-7	breast:
9	chr12:49656722..49663896-chr12:49682381..49687774,8	K562	blood:
10	chr12:49656956..49663896-chr12:49681239..49693031,16	K562	blood:
11	chr12:49500184..49504763-chr12:49658087..49663330,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258101	TF binding region
TUBA1C	TF binding region
ENSG00000212195	Chromatin interaction
ENSG00000178401	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000167550	Chromatin interaction
ENSG00000135406	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000200309	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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv976611	chr12:49662416-49664269	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	15 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	chr12:49659200-49673600	Weak transcription	Fetal Brain Male	brain
2	chr12:49659400-49664200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:49659600-49663400	Weak transcription	Ovary	ovary
4	chr12:49659600-49663800	Weak transcription	Brain Germinal Matrix	brain
5	chr12:49659600-49664800	Weak transcription	Fetal Lung	lung
6	chr12:49659600-49668600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:49659600-49669600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:49659600-49673600	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:49659800-49663600	Weak transcription	Primary B cells from cord blood	blood
10	chr12:49659800-49663600	Weak transcription	Aorta	Aorta
11	chr12:49659800-49663600	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:49659800-49663800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:49659800-49668600	Weak transcription	Right Atrium	heart
14	chr12:49660200-49664000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:49660400-49663600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:49660600-49663400	Transcr. at gene 5' and 3'	Hela-S3	cervix
17	chr12:49660600-49663600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:49661000-49663400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:49661000-49663400	Weak transcription	Spleen	Spleen
20	chr12:49661000-49663600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:49661000-49663600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:49661000-49663600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:49661000-49663800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:49661000-49668000	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr12:49661000-49669800	Strong transcription	Fetal Stomach	stomach
26	chr12:49661200-49664000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:49661400-49663400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:49661400-49663400	Weak transcription	Gastric	stomach
29	chr12:49661400-49663600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr12:49661600-49663600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:49661600-49663600	Weak transcription	Left Ventricle	heart
32	chr12:49661600-49667400	Weak transcription	Fetal Heart	heart
33	chr12:49661600-49668000	Strong transcription	Fetal Thymus	thymus
34	chr12:49661600-49670600	Weak transcription	Psoas Muscle	Psoas
35	chr12:49661800-49663400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:49661800-49663400	Weak transcription	HSMMtube	muscle
37	chr12:49661800-49664800	Weak transcription	Small Intestine	intestine
38	chr12:49661800-49668000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:49662000-49663400	Weak transcription	Liver	Liver
40	chr12:49662000-49663600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:49662000-49663600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:49662000-49664000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:49662000-49666400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:49662000-49667800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:49662000-49667800	Strong transcription	Dnd41	blood
46	chr12:49662000-49668000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:49662000-49668600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:49662200-49668600	Strong transcription	Primary T cells from cord blood	blood
49	chr12:49662400-49663600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:49662400-49663800	Weak transcription	Stomach Mucosa	stomach

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