Variant report

Variant	rs544520744
Chromosome Location	chr12:120727138-120727139
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120685626..120692224-chr12:120727115..120732105,16	K562	blood:
2	chr12:120646880..120656528-chr12:120726067..120732546,19	K562	blood:
3	chr12:120692750..120694251-chr12:120725476..120727142,2	K562	blood:
4	chr12:120726876..120729790-chr18:3446893..3448907,2	MCF-7	breast:
5	chr12:120697928..120706288-chr12:120725352..120732223,30	K562	blood:
6	chr12:120613614..120616096-chr12:120727023..120728937,2	K562	blood:
7	chr12:120548888..120559202-chr12:120724492..120734002,35	MCF-7	breast:
8	chr12:120551667..120557354-chr12:120726466..120731431,13	MCF-7	breast:
9	chr12:120685214..120692467-chr12:120727115..120732311,17	K562	blood:
10	chr12:120560646..120564537-chr12:120726297..120728813,4	MCF-7	breast:
11	chr12:120657004..120683911-chr12:120723753..120737731,232	K562	blood:
12	chr12:120578342..120580518-chr12:120725654..120728594,2	MCF-7	breast:
13	chr12:120727107..120731318-chr12:120971335..120975286,11	K562	blood:
14	chr12:120725886..120727921-chr16:1359471..1361191,2	MCF-7	breast:
15	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:
16	chr12:120726313..120727816-chr3:124349090..124351809,2	MCF-7	breast:
17	chr12:120727070..120730888-chr6:30582965..30586622,3	MCF-7	breast:
18	chr12:120726350..120729329-chr6:7106330..7109286,2	MCF-7	breast:
19	chr12:120726465..120732980-chr12:120904767..120910057,7	MCF-7	breast:
20	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
21	chr12:120551105..120556435-chr12:120727138..120732848,13	K562	blood:
22	chr12:120631139..120640506-chr12:120724902..120734482,54	K562	blood:
23	chr12:120529758..120533741-chr12:120726351..120730111,5	MCF-7	breast:
24	chr12:120699116..120708865-chr12:120725013..120732311,37	K562	blood:
25	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
26	chr12:120587934..120594600-chr12:120726818..120731222,5	K562	blood:
27	chr12:120649749..120656129-chr12:120724644..120730997,12	MCF-7	breast:
28	chr11:66609744..66612707-chr12:120727053..120729795,2	MCF-7	breast:
29	chr12:120726494..120729362-chr6:7140099..7142503,2	MCF-7	breast:
30	chr12:120626707..120642605-chr12:120719450..120732919,96	MCF-7	breast:
31	chr12:120587776..120590251-chr12:120726393..120729476,3	MCF-7	breast:
32	chr12:120628864..120642103-chr12:120725347..120732286,54	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135127	Chromatin interaction
ENSG00000177426	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000266704	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000103275	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000124782	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000240925	Chromatin interaction
ENSG00000173653	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
7	esv1799498	chr12:120725939-120745740	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	429 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120716800-120728600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:120717400-120728600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:120721600-120728600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:120724400-120728400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:120724400-120728400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:120725000-120727800	Weak transcription	A549	lung
7	chr12:120725000-120727800	Weak transcription	HepG2	liver
8	chr12:120725000-120728400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:120725000-120728600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:120725000-120728600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:120725000-120728600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:120725000-120728600	Weak transcription	Fetal Heart	heart
13	chr12:120725000-120728600	Weak transcription	HSMMtube	muscle
14	chr12:120725000-120728600	Weak transcription	NH-A	brain
15	chr12:120725200-120728400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:120725200-120728600	Weak transcription	HMEC	breast
17	chr12:120725200-120729800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:120725200-120730000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:120725200-120730000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:120725400-120728600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:120725400-120728600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:120725600-120728600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:120725600-120728600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:120725600-120728600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:120725600-120728600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:120725600-120728600	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:120725600-120728600	Weak transcription	NHEK	skin
28	chr12:120725600-120728800	Weak transcription	Esophagus	oesophagus
29	chr12:120726200-120728400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:120726400-120727800	Weak transcription	Placenta	Placenta
31	chr12:120726400-120728600	Weak transcription	Placenta Amnion	Placenta Amnion

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