Variant report

Variant	rs71458805
Chromosome Location	chr12:124017254-124017255
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:124017174-124017440	K562	blood:	n/a	n/a
2	RCOR1	chr12:124016551-124018022	K562	blood:	n/a	n/a
3	MAZ	chr12:124016579-124019401	IMR90	lung:	n/a	chr12:124019137-124019147 chr12:124016824-124016835 chr12:124017249-124017259 chr12:124017624-124017639
4	NR2F2	chr12:124016531-124018094	K562	blood:	n/a	n/a
5	MYC	chr12:124016769-124019025	K562	blood:	n/a	chr12:124016824-124016835 chr12:124017249-124017259 chr12:124017624-124017639
6	MXI1	chr12:124017183-124019192	IMR90	lung:	n/a	n/a
7	RCOR1	chr12:124016438-124018290	IMR90	lung:	n/a	n/a
8	MXI1	chr12:124016550-124019478	SK-N-SH	brain:	n/a	n/a
9	RCOR1	chr12:124017150-124017887	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123997284..124000079-chr12:124017073..124019484,2	MCF-7	breast:
2	chr12:124015709..124018064-chr12:124066858..124069100,3	MCF-7	breast:
3	chr12:123947470..123950375-chr12:124015636..124018854,3	K562	blood:
4	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:
5	chr12:124006455..124008310-chr12:124016022..124017705,2	K562	blood:
6	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
7	chr12:124015786..124020200-chr12:124020787..124024805,6	K562	blood:
8	chr12:123942564..123944577-chr12:124016063..124019666,4	MCF-7	breast:
9	chr12:124016749..124018606-chr12:124069216..124071514,2	K562	blood:
10	chr12:123948940..123951509-chr12:124017235..124019368,2	MCF-7	breast:
11	chr12:123998884..124001416-chr12:124016546..124018370,2	K562	blood:
12	chr12:123943032..123944561-chr12:124016969..124018583,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR3908	TF binding region
ENSG00000247373	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000266655	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000184209	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1057879	0.88[ASN][1000 genomes]
rs10846528	0.84[ASN][1000 genomes]
rs11057297	0.81[ASN][1000 genomes]
rs2048615	0.88[ASN][1000 genomes]
rs2333831	0.88[ASN][1000 genomes]
rs28371124	0.88[ASN][1000 genomes]
rs28403439	0.81[ASN][1000 genomes]
rs28408980	0.85[ASN][1000 genomes]
rs28430750	0.88[ASN][1000 genomes]
rs28478446	0.88[ASN][1000 genomes]
rs28497190	0.88[ASN][1000 genomes]
rs28535724	0.81[ASN][1000 genomes]
rs28580741	0.82[ASN][1000 genomes]
rs28673982	0.81[ASN][1000 genomes]
rs28701527	0.88[ASN][1000 genomes]
rs28707421	0.88[ASN][1000 genomes]
rs28712858	0.88[ASN][1000 genomes]
rs28741988	0.88[ASN][1000 genomes]
rs28834793	0.84[ASN][1000 genomes]
rs61953539	0.81[ASN][1000 genomes]
rs61953543	0.81[ASN][1000 genomes]
rs7307227	0.81[ASN][1000 genomes]
rs7315326	0.86[ASN][1000 genomes]
rs786454	0.81[ASN][1000 genomes]
rs7959727	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1037260	chr12:123956749-124023069	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	esv2422416	chr12:124009676-124085689	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv560495	chr12:124012974-124017461	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv13410	chr12:124017022-124017617	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124001200-124017400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:124001400-124017400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:124006200-124017600	Weak transcription	Small Intestine	intestine
4	chr12:124007800-124017400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:124008000-124017400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:124008400-124017400	Weak transcription	Gastric	stomach
7	chr12:124015200-124017400	Enhancers	Pancreas	Pancrea
8	chr12:124015400-124018000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr12:124015800-124017400	Enhancers	Esophagus	oesophagus
10	chr12:124016000-124017400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr12:124016000-124017400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:124016000-124017400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr12:124016000-124017400	Enhancers	Fetal Lung	lung
14	chr12:124016000-124017600	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr12:124016200-124017400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:124016200-124017800	Flanking Active TSS	HUVEC	blood vessel
17	chr12:124016200-124018000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr12:124016400-124017400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr12:124016400-124017400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:124016400-124017400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr12:124016400-124017400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:124016400-124017400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:124016400-124017400	Enhancers	Liver	Liver
24	chr12:124016400-124017400	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr12:124016400-124017400	Enhancers	Colonic Mucosa	Colon
26	chr12:124016400-124017400	Enhancers	Duodenum Mucosa	Duodenum
27	chr12:124016400-124017400	Enhancers	Fetal Intestine Large	intestine
28	chr12:124016400-124017600	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:124016400-124017600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:124016400-124017600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:124016400-124017600	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr12:124016400-124017600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr12:124016400-124017600	Bivalent Enhancer	Fetal Thymus	thymus
34	chr12:124016400-124017600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr12:124016400-124017600	Enhancers	Spleen	Spleen
36	chr12:124016400-124017600	Flanking Active TSS	Osteobl	bone
37	chr12:124016400-124018000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr12:124016400-124018000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr12:124016400-124018000	Flanking Active TSS	HMEC	breast
40	chr12:124016400-124019400	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr12:124016600-124017400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:124016600-124017400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:124016600-124017400	Enhancers	Primary T cells from cord blood	blood
44	chr12:124016600-124017400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr12:124016600-124017400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr12:124016600-124017400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr12:124016600-124017400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr12:124016600-124017400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:124016600-124017400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr12:124016600-124017400	Enhancers	Rectal Mucosa Donor 31	rectum

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