Variant report

Variant	rs3923720
Chromosome Location	chr12:124117446-124117447
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr12:124117396-124117799	K562	blood:	n/a	n/a
2	SREBP2	chr12:124117417-124119412	GM12878	blood:	n/a	n/a
3	SIN3AK20	chr12:124117421-124117708	K562	blood:	n/a	n/a
4	GABPA	chr12:124117442-124119088	A549	lung:	n/a	n/a
5	MXI1	chr12:124117405-124119471	SK-N-SH	brain:	n/a	n/a
6	GABPA	chr12:124117434-124119110	MCF-7	breast:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124116825..124119400-chr12:124154444..124157055,3	MCF-7	breast:
2	chr12:124085449..124088387-chr12:124115552..124120028,6	MCF-7	breast:
3	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
4	chr12:123755830..123757417-chr12:124116609..124118455,2	MCF-7	breast:
5	chr12:123847301..123849584-chr12:124117443..124120110,3	K562	blood:
6	chr12:124068831..124072178-chr12:124116882..124120107,5	K562	blood:
7	chr12:124067567..124070616-chr12:124116717..124118360,3	K562	blood:
8	chr12:124067553..124070106-chr12:124116767..124119854,4	MCF-7	breast:
9	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:
10	chr12:124084988..124092992-chr12:124114351..124121638,14	K562	blood:
11	chr12:124115420..124119615-chr12:124195159..124199573,8	MCF-7	breast:
12	chr12:124085496..124088026-chr12:124116630..124119648,4	MCF-7	breast:
13	chr12:124117107..124120837-chr12:124123304..124127842,5	MCF-7	breast:
14	chr12:124116424..124121252-chr12:124194298..124198817,7	K562	blood:

No data

Variant related genes	Relation type
EIF2B1	TF binding region
GTF2H3	TF binding region
ENSG00000119242	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000168778	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000178882	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10161548	0.87[ASN][1000 genomes]
rs10773019	0.87[ASN][1000 genomes]
rs10773020	0.95[ASN][1000 genomes]
rs10846530	0.87[ASN][1000 genomes]
rs10846532	0.87[ASN][1000 genomes]
rs10846534	0.89[ASN][1000 genomes]
rs10846536	0.89[ASN][1000 genomes]
rs10846538	0.87[ASN][1000 genomes]
rs11057299	0.87[ASN][1000 genomes]
rs11057304	0.87[ASN][1000 genomes]
rs11057310	0.95[ASN][1000 genomes]
rs11057312	0.89[ASN][1000 genomes]
rs11057313	0.89[ASN][1000 genomes]
rs11057322	0.87[ASN][1000 genomes]
rs11572926	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11572940	0.89[ASN][1000 genomes]
rs11572949	0.89[ASN][1000 genomes]
rs12231444	0.87[ASN][1000 genomes]
rs12308953	0.87[ASN][1000 genomes]
rs12309685	0.87[ASN][1000 genomes]
rs12313119	0.87[ASN][1000 genomes]
rs2292702	0.89[ASN][1000 genomes]
rs2707	0.87[ASN][1000 genomes]
rs3704	0.89[ASN][1000 genomes]
rs3748270	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61154946	0.87[ASN][1000 genomes]
rs6488887	0.89[ASN][1000 genomes]
rs7298287	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7302177	0.89[ASN][1000 genomes]
rs7303409	0.87[ASN][1000 genomes]
rs7311689	0.89[ASN][1000 genomes]
rs7316410	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73414223	0.87[ASN][1000 genomes]
rs7358562	0.87[ASN][1000 genomes]
rs7967780	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1040356	chr12:124094758-124172731	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv2757517	chr12:124110122-124195856	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv2759918	chr12:124110122-124195856	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
8	nsv1041918	chr12:124115035-124184855	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
9	nsv1042866	chr12:124115035-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv442292	chr12:124115047-124195854	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124095000-124117600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:124096400-124117600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:124102400-124117600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:124113600-124117600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:124114000-124117800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:124114800-124117600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:124115000-124117600	Weak transcription	Stomach Mucosa	stomach
8	chr12:124115400-124117600	Weak transcription	Esophagus	oesophagus
9	chr12:124116000-124117600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:124116000-124117600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:124116000-124117600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:124116000-124117600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:124116000-124117600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:124116000-124117600	Weak transcription	Brain Angular Gyrus	brain
15	chr12:124116000-124117600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:124116000-124117600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:124116000-124117600	Weak transcription	Brain Substantia Nigra	brain
18	chr12:124116000-124117600	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:124116000-124117600	Weak transcription	Gastric	stomach
20	chr12:124116000-124117600	Weak transcription	Ovary	ovary
21	chr12:124116000-124117600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:124116000-124117600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:124116000-124117600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:124116000-124117600	Weak transcription	HSMMtube	muscle
25	chr12:124116000-124117800	Weak transcription	Aorta	Aorta
26	chr12:124116000-124117800	Weak transcription	Pancreas	Pancrea
27	chr12:124116000-124117800	Weak transcription	Spleen	Spleen
28	chr12:124116200-124117600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:124116200-124117600	Weak transcription	Colonic Mucosa	Colon
30	chr12:124116200-124117600	Weak transcription	Fetal Brain Female	brain
31	chr12:124116200-124117600	Weak transcription	Left Ventricle	heart
32	chr12:124116200-124117600	Weak transcription	Thymus	Thymus
33	chr12:124116200-124117800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:124116400-124117600	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:124116600-124117600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:124116600-124117800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:124116600-124117800	Weak transcription	Lung	lung
38	chr12:124116800-124117600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:124116800-124117600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr12:124116800-124117600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:124116800-124117600	Enhancers	Liver	Liver
42	chr12:124116800-124117800	Flanking Active TSS	Dnd41	blood
43	chr12:124116800-124119200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:124116800-124119200	Active TSS	K562	blood
45	chr12:124117000-124117600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:124117000-124117600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:124117000-124117600	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr12:124117000-124117600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr12:124117000-124117600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:124117000-124117600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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