Variant report

Variant	rs533417242
Chromosome Location	chr12:49761792-49761793
allele	C/G
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49716623..49719210-chr12:49759055..49761901,3	MCF-7	breast:
2	chr12:49656837..49661590-chr12:49759665..49765017,7	K562	blood:
3	chr12:49657571..49662873-chr12:49757027..49762131,10	K562	blood:
4	chr12:49689044..49692243-chr12:49760659..49764012,4	MCF-7	breast:
5	chr12:49729980..49732705-chr12:49760412..49762088,2	K562	blood:
6	chr12:49390072..49392510-chr12:49759241..49762093,2	K562	blood:
7	chr12:49759487..49762377-chr12:49960316..49963479,6	K562	blood:
8	chr12:49759658..49762377-chr12:49960316..49963047,2	K562	blood:
9	chr12:49758876..49762155-chr12:49906533..49909731,5	MCF-7	breast:
10	chr12:49757911..49761864-chr12:50015854..50019350,3	K562	blood:
11	chr12:49761628..49763980-chr12:49778457..49780387,2	K562	blood:
12	chr12:49759192..49762198-chr12:50016828..50018696,3	MCF-7	breast:
13	chr12:49745336..49748188-chr12:49759488..49762139,2	K562	blood:
14	chr12:49761379..49761948-chr3:184081034..184081848,2	Hela-S3	cervix:
15	chr12:49761594..49763714-chr12:49934318..49937215,2	K562	blood:
16	chr12:49759029..49763168-chr12:49779946..49784312,5	MCF-7	breast:
17	chr12:49729980..49733163-chr12:49759007..49762779,4	K562	blood:
18	chr12:49760076..49762481-chr12:49958970..49962083,4	MCF-7	breast:
19	chr12:49759353..49762276-chr12:49930939..49933731,4	K562	blood:
20	chr12:49759570..49762166-chr12:49852805..49855688,2	MCF-7	breast:
21	chr12:49739131..49745064-chr12:49758784..49762517,10	MCF-7	breast:
22	chr12:49740264..49744957-chr12:49759411..49762039,7	MCF-7	breast:
23	chr12:49730111..49734791-chr12:49758969..49762593,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167553	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000163882	Chromatin interaction
ENSG00000135451	Chromatin interaction
ENSG00000257954	Chromatin interaction
ENSG00000258334	Chromatin interaction
ENSG00000178401	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000135519	Chromatin interaction
ENSG00000135406	Chromatin interaction
ENSG00000186897	Chromatin interaction
ENSG00000257913	Chromatin interaction
ENSG00000123352	Chromatin interaction
ENSG00000187778	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	esv3423651	chr12:49760110-49762658	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
9	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 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	chr12:49759600-49762000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:49759600-49762000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:49759600-49762200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:49759600-49762600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr12:49759600-49762600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:49759600-49763000	Active TSS	A549	lung
7	chr12:49759800-49761800	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr12:49759800-49761800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:49759800-49761800	Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr12:49759800-49761800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:49759800-49761800	Active TSS	Hela-S3	cervix
12	chr12:49759800-49762000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:49759800-49762000	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:49759800-49762000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:49759800-49762000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:49759800-49762200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:49759800-49762200	Active TSS	Colonic Mucosa	Colon
18	chr12:49759800-49762200	Active TSS	Fetal Intestine Large	intestine
19	chr12:49759800-49762400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:49759800-49762600	Active TSS	HSMM	muscle
21	chr12:49759800-49763200	Active TSS	GM12878-XiMat	blood
22	chr12:49759800-49764000	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr12:49760000-49761800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:49760000-49761800	Active TSS	Brain Cingulate Gyrus	brain
25	chr12:49760000-49761800	Active TSS	Brain Hippocampus Middle	brain
26	chr12:49760000-49761800	Active TSS	Fetal Lung	lung
27	chr12:49760000-49761800	Active TSS	Placenta Amnion	Placenta Amnion
28	chr12:49760000-49761800	Active TSS	Stomach Mucosa	stomach
29	chr12:49760000-49762000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:49760000-49762000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:49760000-49762000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:49760000-49762000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr12:49760000-49762000	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr12:49760000-49762000	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr12:49760000-49762000	Active TSS	Aorta	Aorta
36	chr12:49760000-49762000	Active TSS	Brain Substantia Nigra	brain
37	chr12:49760000-49762000	Active TSS	Colon Smooth Muscle	Colon
38	chr12:49760000-49762000	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr12:49760000-49762000	Active TSS	Esophagus	oesophagus
40	chr12:49760000-49762000	Active TSS	Gastric	stomach
41	chr12:49760000-49762000	Active TSS	Left Ventricle	heart
42	chr12:49760000-49762000	Active TSS	Pancreas	Pancrea
43	chr12:49760000-49762200	Active TSS	Brain Germinal Matrix	brain
44	chr12:49760000-49762200	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr12:49760000-49762200	Active TSS	Fetal Muscle Trunk	muscle
46	chr12:49760000-49762200	Active TSS	Ovary	ovary
47	chr12:49760000-49762200	Active TSS	Psoas Muscle	Psoas
48	chr12:49760000-49762200	Active TSS	Right Ventricle	heart
49	chr12:49760000-49762200	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr12:49760000-49762200	Active TSS	HSMMtube	muscle

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