Variant report

Variant	rs543646783
Chromosome Location	chr12:106529790-106529791
allele	A/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:106426879..106427562-chr12:106529618..106530330,2	MCF-7	breast:
2	chr12:105814363..105815481-chr12:106529622..106530636,3	MCF-7	breast:
3	chr12:106425864..106426522-chr12:106529759..106530547,2	MCF-7	breast:
4	chr12:106197861..106199984-chr12:106529644..106531234,2	MCF-7	breast:
5	chr12:106389362..106391020-chr12:106528296..106530507,2	MCF-7	breast:
6	chr12:106099358..106100248-chr12:106529662..106530556,3	K562	blood:
7	chr12:106517490..106522958-chr12:106525494..106529897,7	MCF-7	breast:
8	chr12:106480275..106482643-chr12:106529582..106531677,2	MCF-7	breast:
9	chr12:106529633..106530327-chr12:106598845..106599811,3	MCF-7	breast:
10	chr12:106099637..106100474-chr12:106529654..106530671,3	MCF-7	breast:
11	chr12:106168262..106170732-chr12:106528906..106531408,2	MCF-7	breast:
12	chr12:105848787..105849764-chr12:106529532..106530649,7	MCF-7	breast:
13	chr12:106168956..106169805-chr12:106529679..106530573,5	MCF-7	breast:
14	chr12:105814165..105815073-chr12:106529681..106530596,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040534	chr12:106528394-106619175	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106504800-106532400	Weak transcription	Spleen	Spleen
2	chr12:106509800-106531400	Weak transcription	Gastric	stomach
3	chr12:106520600-106530200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:106524000-106529800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:106524200-106530200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:106524400-106530600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:106524600-106529800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:106524600-106529800	Enhancers	Fetal Muscle Leg	muscle
9	chr12:106525000-106529800	Enhancers	Fetal Lung	lung
10	chr12:106525200-106529800	Enhancers	Liver	Liver
11	chr12:106525200-106530200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:106525600-106529800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:106525600-106530200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr12:106525600-106530200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:106525600-106530200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr12:106525800-106529800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:106525800-106530400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:106526200-106529800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:106526600-106529800	Enhancers	Hela-S3	cervix
20	chr12:106526600-106531200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:106526600-106531600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:106527200-106530000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:106527200-106530200	Enhancers	HepG2	liver
24	chr12:106527200-106530600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:106527400-106529800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:106527600-106529800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:106528000-106530000	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr12:106528000-106530200	Enhancers	Fetal Muscle Trunk	muscle
29	chr12:106528000-106530800	Enhancers	Placenta	Placenta
30	chr12:106528200-106530200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr12:106528400-106529800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:106528400-106530400	Transcr. at gene 5' and 3'	HSMMtube	muscle
33	chr12:106528600-106530800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:106528600-106534200	Active TSS	Fetal Brain Female	brain
35	chr12:106528800-106529800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr12:106528800-106530000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr12:106528800-106530200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr12:106528800-106531600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:106528800-106531600	Flanking Active TSS	NH-A	brain
40	chr12:106528800-106532400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr12:106529000-106529800	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr12:106529000-106529800	Enhancers	Fetal Stomach	stomach
43	chr12:106529000-106529800	Transcr. at gene 5' and 3'	A549	lung
44	chr12:106529000-106530000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:106529000-106530000	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr12:106529000-106530000	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr12:106529000-106530000	Flanking Active TSS	Fetal Heart	heart
48	chr12:106529000-106530200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:106529000-106530600	Flanking Active TSS	Right Atrium	heart
50	chr12:106529000-106531400	Flanking Active TSS	HUVEC	blood vessel

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