Variant report

Variant	rs1026443
Chromosome Location	chr12:10764928-10764929
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:10764611-10766584	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:10764869-10764981	MCF-7	breast:	n/a	n/a
3	POLR2A	chr12:10764397-10767179	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:10764557-10765685	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:10764813-10764955	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:10764766-10764964	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:10764827-10765105	H1-hESC	embryonic stem cell:	n/a	n/a
8	TBL1XR1	chr12:10764900-10765242	K562	blood:	n/a	n/a
9	POLR2A	chr12:10764756-10765081	K562	blood:	n/a	n/a
10	POLR2A	chr12:10764544-10767138	GM18505	blood:	n/a	n/a
11	POLR2A	chr12:10764672-10765102	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:10764363-10765009	K562	blood:	n/a	n/a
13	POLR2A	chr12:10764551-10765079	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr12:10764431-10767480	GM12891	blood:	n/a	n/a
15	POLR2A	chr12:10764541-10767013	IMR90	lung:	n/a	n/a
16	POLR2A	chr12:10764392-10767145	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:10764742-10764973	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr12:10764687-10765035	K562	blood:	n/a	n/a
19	POLR2A	chr12:10759407-10766713	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:10754715..10757719-chr12:10762132..10766161,5	MCF-7	breast:
2	chr12:10763668..10768180-chr12:10873034..10877438,4	K562	blood:
3	chr12:10764890..10767963-chr12:10824892..10828037,6	MCF-7	breast:
4	chr12:10757768..10761323-chr12:10763648..10767654,5	MCF-7	breast:
5	chr12:10759828..10762348-chr12:10763400..10769792,9	K562	blood:
6	chr12:10763668..10768484-chr12:10873757..10876876,5	K562	blood:

No data

Variant related genes	Relation type
MAGOHB	TF binding region
ENSG00000060138	Chromatin interaction
ENSG00000060140	Chromatin interaction
ENSG00000111196	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1026445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1026446	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772332	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10772333	0.85[AMR][1000 genomes]
rs10772335	0.82[AMR][1000 genomes]
rs10845182	0.84[AMR][1000 genomes]
rs2011295	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2125090	0.85[AMR][1000 genomes]
rs2198965	0.81[AMR][1000 genomes]
rs2219383	0.84[AMR][1000 genomes]
rs3947920	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4763209	0.85[AMR][1000 genomes]
rs4763211	0.81[AMR][1000 genomes]
rs4763562	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4763563	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6488312	0.81[AMR][1000 genomes]
rs6488313	0.81[AMR][1000 genomes]
rs7308433	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7316237	0.84[AMR][1000 genomes]
rs7965803	0.81[AMR][1000 genomes]
rs7976279	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs953248	0.81[AMR][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	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr12:10725600-10765000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:10743400-10765400	Weak transcription	Gastric	stomach
3	chr12:10744000-10765200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:10744000-10765400	Weak transcription	Aorta	Aorta
5	chr12:10744200-10765400	Weak transcription	Esophagus	oesophagus
6	chr12:10753600-10765400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:10758000-10765200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:10761400-10765200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:10761600-10765000	Weak transcription	Stomach Mucosa	stomach
10	chr12:10762400-10765200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:10763000-10765000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:10763000-10765000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:10763000-10765000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:10763000-10765000	Weak transcription	NH-A	brain
15	chr12:10763000-10765200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:10763000-10765400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:10763800-10765200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:10764000-10765000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:10764000-10765000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:10764000-10765000	Genic enhancers	Fetal Muscle Leg	muscle
21	chr12:10764000-10765000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr12:10764000-10765200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:10764200-10765000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr12:10764200-10765200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:10764200-10765200	Weak transcription	Spleen	Spleen
26	chr12:10764400-10765000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:10764400-10765000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:10764400-10765000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:10764400-10765000	Flanking Active TSS	HepG2	liver
30	chr12:10764400-10765400	Transcr. at gene 5' and 3'	Dnd41	blood
31	chr12:10764400-10765600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:10764600-10765000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:10764600-10765000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
34	chr12:10764600-10765000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:10764600-10765000	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:10764600-10765000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr12:10764600-10765000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr12:10764600-10765000	Enhancers	Brain Angular Gyrus	brain
39	chr12:10764600-10765000	Enhancers	Brain Hippocampus Middle	brain
40	chr12:10764600-10765000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr12:10764600-10765000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr12:10764600-10765000	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
43	chr12:10764600-10765000	Enhancers	Fetal Thymus	thymus
44	chr12:10764600-10765000	Enhancers	Placenta Amnion	Placenta Amnion
45	chr12:10764600-10765000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr12:10764600-10765000	Enhancers	Thymus	Thymus
47	chr12:10764600-10765000	Flanking Active TSS	NHDF-Ad	bronchial
48	chr12:10764600-10765200	Enhancers	Primary B cells from cord blood	blood
49	chr12:10764600-10765200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:10764600-10765200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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