Variant report

Variant	rs10877904
Chromosome Location	chr12:63047678-63047679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU5F1	chr12:63047353-63047980	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr12:63047414-63047838	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr12:63047381-63047953	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr12:63047505-63047835	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr12:63047450-63048127	H1-hESC	embryonic stem cell:	n/a	n/a
6	HDAC2	chr12:63047452-63047831	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr12:63047464-63048296	H1-hESC	embryonic stem cell:	n/a	chr12:63048096-63048108
8	TEAD4	chr12:63047378-63047966	ECC-1	luminal epithelium:	n/a	n/a
9	EGR1	chr12:63047407-63047867	H1-hESC	embryonic stem cell:	n/a	n/a
10	EGR1	chr12:63047374-63047865	H1-hESC	embryonic stem cell:	n/a	n/a
11	HDAC2	chr12:63047418-63047918	H1-hESC	embryonic stem cell:	n/a	n/a
12	RXRA	chr12:63047462-63047941	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:63047434-63047917	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL11A	chr12:63047511-63047850	H1-hESC	embryonic stem cell:	n/a	n/a
15	EP300	chr12:63047361-63047965	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTBP2	chr12:63047468-63048287	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3AK20	chr12:63047467-63047794	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr12:63047387-63047875	H1-hESC	embryonic stem cell:	n/a	chr12:63047394-63047406
19	JUND	chr12:63047499-63047815	H1-hESC	embryonic stem cell:	n/a	n/a
20	USF1	chr12:63047493-63047784	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr12:63047431-63047976	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr12:63047406-63047989	H1-hESC	embryonic stem cell:	n/a	n/a
23	JUND	chr12:63047228-63047859	H1-hESC	embryonic stem cell:	n/a	chr12:63047394-63047406
24	REST	chr12:63047507-63047729	H1-hESC	embryonic stem cell:	n/a	n/a
25	EP300	chr12:63047325-63048060	ECC-1	luminal epithelium:	n/a	n/a
26	TCF12	chr12:63047384-63047946	H1-hESC	embryonic stem cell:	n/a	n/a
27	EP300	chr12:63047492-63047901	H1-hESC	embryonic stem cell:	n/a	n/a
28	SP1	chr12:63047389-63047874	H1-hESC	embryonic stem cell:	n/a	chr12:63047610-63047621
29	CREB1	chr12:63047355-63047966	H1-hESC	embryonic stem cell:	n/a	n/a
30	TEAD4	chr12:63047369-63047999	H1-hESC	embryonic stem cell:	n/a	n/a
31	TCF12	chr12:63047307-63048058	H1-hESC	embryonic stem cell:	n/a	n/a
32	NANOG	chr12:63047462-63047856	H1-hESC	embryonic stem cell:	n/a	n/a
33	TEAD4	chr12:63047378-63047968	H1-hESC	embryonic stem cell:	n/a	n/a
34	SP1	chr12:63047361-63047960	H1-hESC	embryonic stem cell:	n/a	chr12:63047610-63047621
35	SP4	chr12:63047374-63048011	H1-hESC	embryonic stem cell:	n/a	chr12:63047610-63047621
36	SP4	chr12:63047431-63047955	H1-hESC	embryonic stem cell:	n/a	chr12:63047610-63047621
37	POLR2A	chr12:63047633-63047942	H1-hESC	embryonic stem cell:	n/a	n/a
38	RXRA	chr12:63047328-63047914	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZNF274	chr12:63047380-63047845	H1-hESC	embryonic stem cell:	n/a	n/a
40	TEAD4	chr12:63047390-63047901	ECC-1	luminal epithelium:	n/a	n/a
41	JUN	chr12:63047420-63047815	H1-hESC	embryonic stem cell:	n/a	n/a
42	USF1	chr12:63047343-63047946	H1-hESC	embryonic stem cell:	n/a	n/a
43	YY1	chr12:63047428-63047825	H1-hESC	embryonic stem cell:	n/a	n/a
44	ATF2	chr12:63047402-63047950	H1-hESC	embryonic stem cell:	n/a	n/a
45	ATF2	chr12:63047420-63047961	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr12:63047398-63047961	H1-hESC	embryonic stem cell:	n/a	n/a
47	GTF2F1	chr12:63047468-63047810	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr12:63047347-63048040	H1-hESC	embryonic stem cell:	n/a	n/a
49	NANOG	chr12:63047465-63047891	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63038732..63045047-chr12:63045521..63050769,8	MCF-7	breast:
2	chr12:63045714..63050618-chr12:63051733..63055030,6	MCF-7	breast:

No data

Variant related genes	Relation type
RPL32P26	TF binding region
ENSG00000241941	Chromatin interaction
ENSG00000238475	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11174583	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs11174587	0.89[ASN][1000 genomes]
rs11174588	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs11174591	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7302602	1.00[CHB][hapmap];0.89[ASN][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	nsv741	chr12:63038255-63064846	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63026600-63049800	Weak transcription	Right Atrium	heart
2	chr12:63035000-63048000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:63035200-63048400	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:63035200-63069800	Weak transcription	Left Ventricle	heart
5	chr12:63037200-63050800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:63037200-63069600	Weak transcription	Fetal Intestine Large	intestine
7	chr12:63039200-63070000	Weak transcription	Pancreas	Pancrea
8	chr12:63041400-63049800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:63041600-63049400	Weak transcription	Brain Angular Gyrus	brain
10	chr12:63041600-63049800	Weak transcription	Fetal Stomach	stomach
11	chr12:63041600-63053600	Weak transcription	Osteobl	bone
12	chr12:63041800-63048600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:63042000-63049600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:63042200-63050400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:63042400-63047800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:63042400-63048000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:63042400-63048600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:63042400-63049200	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:63042400-63049400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:63042400-63049400	Weak transcription	Ovary	ovary
21	chr12:63042600-63047800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:63042600-63048200	Weak transcription	Gastric	stomach
23	chr12:63042800-63048200	Weak transcription	Thymus	Thymus
24	chr12:63043400-63048200	Weak transcription	HepG2	liver
25	chr12:63044800-63050200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
26	chr12:63045000-63053400	Weak transcription	Fetal Kidney	kidney
27	chr12:63045600-63051000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr12:63045800-63054000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:63046000-63048400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:63046000-63049600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
31	chr12:63046000-63054000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:63047000-63047800	Enhancers	Liver	Liver
33	chr12:63047000-63051800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:63047200-63047800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:63047200-63048000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
36	chr12:63047200-63048000	Enhancers	Adipose Nuclei	Adipose
37	chr12:63047200-63048000	Weak transcription	Brain Substantia Nigra	brain
38	chr12:63047200-63048400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr12:63047200-63048600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr12:63047200-63054000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:63047400-63047800	Enhancers	Stomach Mucosa	stomach
42	chr12:63047400-63047800	Enhancers	HMEC	breast
43	chr12:63047400-63048800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:63047400-63049200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr12:63047400-63049400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:63047400-63053800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr12:63047600-63047800	Enhancers	Lung	lung
48	chr12:63047600-63048000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr12:63047600-63048000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
50	chr12:63047600-63048200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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