Variant report

Variant	rs112319707
Chromosome Location	chr12:124019362-124019363
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr12:124016579-124019401	IMR90	lung:	n/a	chr12:124019137-124019147 chr12:124016824-124016835 chr12:124017249-124017259 chr12:124017624-124017639
2	REST	chr12:124018267-124019551	H1-neurons	neurons:	n/a	chr12:124018410-124018423 chr12:124019137-124019150
3	POLR2A	chr12:124019296-124019674	HepG2	liver:	n/a	n/a
4	MAX	chr12:124017255-124019402	A549	lung:	n/a	chr12:124019137-124019147 chr12:124017624-124017639
5	POLR2A	chr12:124018593-124019434	K562	blood:	n/a	n/a
6	MXI1	chr12:124016550-124019478	SK-N-SH	brain:	n/a	n/a
7	CTBP2	chr12:124018842-124019373	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3AK20	chr12:124019131-124019369	A549	lung:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124018210..124020140-chr12:124067644..124069375,2	MCF-7	breast:
2	chr12:124018963..124020649-chr12:124025084..124027162,2	MCF-7	breast:
3	chr12:123997284..124000079-chr12:124017073..124019484,2	MCF-7	breast:
4	chr12:124018609..124020737-chr12:124028286..124031087,2	MCF-7	breast:
5	chr12:123921165..123922728-chr12:124019054..124020967,2	K562	blood:
6	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:
7	chr12:123871385..123875741-chr12:124017374..124019532,6	MCF-7	breast:
8	chr12:124017816..124019657-chr12:124117596..124119161,2	MCF-7	breast:
9	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
10	chr12:124015786..124020200-chr12:124020787..124024805,6	K562	blood:
11	chr12:123912338..123913868-chr12:124018894..124020678,2	K562	blood:
12	chr12:123942564..123944577-chr12:124016063..124019666,4	MCF-7	breast:
13	chr12:123948940..123951509-chr12:124017235..124019368,2	MCF-7	breast:
14	chr12:124018224..124020563-chr12:124065688..124070487,5	K562	blood:
15	chr12:124018351..124020362-chr12:124063140..124065356,2	MCF-7	breast:

No data

Variant related genes	Relation type
RILPL1	TF binding region
MIR3908	TF binding region
ENSG00000247373	Chromatin interaction
ENSG00000266655	Chromatin interaction
ENSG00000150977	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000111358	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3357232	chr12:124017349-124019447	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124016400-124019400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:124016800-124019400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:124016800-124019400	Active TSS	Right Atrium	heart
4	chr12:124017000-124019400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:124017000-124019400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:124017000-124019600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:124017200-124019400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr12:124017200-124019400	Active TSS	Colon Smooth Muscle	Colon
9	chr12:124017200-124019400	Active TSS	HSMM	muscle
10	chr12:124017400-124019400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:124017400-124019400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:124017400-124019400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:124017400-124019400	Active TSS	Brain Angular Gyrus	brain
14	chr12:124017400-124019400	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr12:124017400-124019400	Active TSS	Lung	lung
16	chr12:124017400-124019600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr12:124017600-124019400	Active TSS	Rectal Smooth Muscle	rectum
18	chr12:124017600-124019400	Active TSS	Hela-S3	cervix
19	chr12:124017600-124019600	Active TSS	Brain Anterior Caudate	brain
20	chr12:124017800-124019400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:124017800-124019400	Active TSS	Fetal Brain Female	brain
22	chr12:124017800-124019400	Active TSS	HepG2	liver
23	chr12:124017800-124019400	Active TSS	HSMMtube	muscle
24	chr12:124017800-124019400	Active TSS	NH-A	brain
25	chr12:124018000-124019400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr12:124018000-124019400	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr12:124018000-124019400	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr12:124018000-124019600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:124018000-124019600	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr12:124018600-124019400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:124018800-124019400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:124018800-124019400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:124018800-124019400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr12:124018800-124019400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:124018800-124019400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr12:124018800-124019400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:124018800-124019400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:124018800-124019400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:124018800-124019400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:124018800-124019400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr12:124018800-124019400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr12:124018800-124019400	Active TSS	Fetal Kidney	kidney
43	chr12:124018800-124019400	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr12:124018800-124019400	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr12:124018800-124019400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr12:124018800-124019400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr12:124018800-124019400	Flanking Active TSS	Dnd41	blood
48	chr12:124019000-124019400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
49	chr12:124019000-124019400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:124019000-124019400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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