Variant report

Variant	rs199771928
Chromosome Location	chr12:106532157-106532158
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105813159..105815019-chr12:106530555..106533790,3	MCF-7	breast:
2	chr12:106492655..106494743-chr12:106531247..106533400,2	MCF-7	breast:
3	chr12:106531533..106535020-chr12:106751427..106753733,3	MCF-7	breast:
4	chr12:106531582..106534564-chr12:106638638..106642825,4	MCF-7	breast:
5	chr12:106530538..106533489-chr21:45720993..45722584,2	MCF-7	breast:
6	chr12:106531262..106533679-chr12:106543496..106547207,3	MCF-7	breast:
7	chr12:106260796..106262359-chr12:106530487..106533062,2	MCF-7	breast:
8	chr12:106417953..106419707-chr12:106531100..106533719,2	MCF-7	breast:
9	chr12:106105066..106107920-chr12:106531148..106533033,2	MCF-7	breast:
10	chr12:106378534..106380101-chr12:106531671..106533641,2	MCF-7	breast:
11	chr12:105878812..105881754-chr12:106532109..106533760,2	MCF-7	breast:
12	chr12:106529953..106533456-chr12:106589507..106592473,3	MCF-7	breast:
13	chr12:105946907..105949767-chr12:106531210..106533511,2	MCF-7	breast:
14	chr12:106530740..106533315-chr17:57922492..57924667,2	MCF-7	breast:
15	chr12:106256670..106259118-chr12:106531259..106533128,2	MCF-7	breast:
16	chr12:106322581..106324128-chr12:106531603..106533720,2	MCF-7	breast:
17	chr12:106439470..106441624-chr12:106531881..106533487,2	MCF-7	breast:
18	chr12:89746855..89748996-chr12:106530986..106533186,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258355	Chromatin interaction
ENSG00000013503	Chromatin interaction
ENSG00000139318	Chromatin interaction
ENSG00000136026	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	esv3441307	chr12:106531647-106534695	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3400925	chr12:106531722-106534570	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106504800-106532400	Weak transcription	Spleen	Spleen
2	chr12:106528600-106534200	Active TSS	Fetal Brain Female	brain
3	chr12:106528800-106532400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr12:106529000-106532600	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr12:106529200-106534200	Active TSS	Right Ventricle	heart
6	chr12:106529200-106534600	Active TSS	Aorta	Aorta
7	chr12:106529200-106535000	Active TSS	Left Ventricle	heart
8	chr12:106529400-106534000	Active TSS	Ovary	ovary
9	chr12:106529600-106533800	Active TSS	HSMM	muscle
10	chr12:106529600-106535000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:106529800-106533600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr12:106530000-106532200	Active TSS	Fetal Brain Male	brain
13	chr12:106530000-106534800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:106530000-106534800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:106530200-106532600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
16	chr12:106530200-106533400	Active TSS	Lung	lung
17	chr12:106530400-106534000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:106530400-106534000	Active TSS	HSMMtube	muscle
19	chr12:106530600-106533800	Active TSS	Brain Anterior Caudate	brain
20	chr12:106530600-106533800	Active TSS	Brain Cingulate Gyrus	brain
21	chr12:106530600-106534000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:106530600-106534000	Active TSS	Colon Smooth Muscle	Colon
23	chr12:106530600-106534000	Active TSS	Psoas Muscle	Psoas
24	chr12:106530600-106534400	Active TSS	NHDF-Ad	bronchial
25	chr12:106530600-106534600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr12:106530800-106534000	Active TSS	Brain Hippocampus Middle	brain
27	chr12:106530800-106534200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:106530800-106534200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:106530800-106535600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr12:106531000-106532400	Flanking Active TSS	Liver	Liver
31	chr12:106531200-106532200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr12:106531200-106532200	Bivalent/Poised TSS	Esophagus	oesophagus
33	chr12:106531200-106532200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
34	chr12:106531200-106532400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr12:106531200-106532400	Bivalent/Poised TSS	Colonic Mucosa	Colon
36	chr12:106531200-106534000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:106531200-106534000	Bivalent/Poised TSS	Thymus	Thymus
38	chr12:106531200-106534000	Active TSS	A549	lung
39	chr12:106531200-106534200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:106531200-106534400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
41	chr12:106531400-106532200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr12:106531400-106532200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr12:106531400-106532200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:106531400-106532200	Active TSS	Fetal Heart	heart
45	chr12:106531400-106532200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
46	chr12:106531400-106532400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr12:106531400-106532400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr12:106531400-106532600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr12:106531400-106532600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:106531400-106533600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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