Variant report

Variant	rs373673080
Chromosome Location	chr12:106133248-106133249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106133184..106135047-chr12:106140177..106142971,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899503	chr12:106021477-106175903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv899504	chr12:106095906-106135942	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
6	esv3447181	chr12:106132354-106138639	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106127400-106134600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:106129400-106133400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:106129400-106134200	Weak transcription	HSMM	muscle
4	chr12:106130000-106137800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:106130800-106133400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:106130800-106133600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:106130800-106134800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:106131000-106133400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:106131400-106134000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:106131800-106135000	Enhancers	Fetal Brain Male	brain
11	chr12:106131800-106136600	Enhancers	Right Atrium	heart
12	chr12:106131800-106138000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:106132000-106133800	Enhancers	Left Ventricle	heart
14	chr12:106132200-106136200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:106132200-106137800	Enhancers	Fetal Muscle Leg	muscle
16	chr12:106132400-106133600	Enhancers	Lung	lung
17	chr12:106132400-106133800	Enhancers	Adipose Nuclei	Adipose
18	chr12:106132600-106133400	Weak transcription	Brain Anterior Caudate	brain
19	chr12:106132600-106134000	Weak transcription	Fetal Heart	heart
20	chr12:106132600-106134200	Weak transcription	Ovary	ovary
21	chr12:106132600-106134600	Weak transcription	Fetal Lung	lung
22	chr12:106132600-106134800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:106132600-106135000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:106132600-106136200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:106132600-106136800	Enhancers	Brain Angular Gyrus	brain
26	chr12:106132800-106133400	Bivalent Enhancer	HUVEC	blood vessel
27	chr12:106132800-106133800	Weak transcription	Fetal Stomach	stomach
28	chr12:106132800-106134000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:106132800-106134200	Weak transcription	Aorta	Aorta
30	chr12:106132800-106134400	Enhancers	Fetal Brain Female	brain
31	chr12:106132800-106135400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr12:106132800-106136600	Enhancers	Psoas Muscle	Psoas
33	chr12:106133000-106133600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:106133000-106133600	Enhancers	Right Ventricle	heart
35	chr12:106133000-106134800	Enhancers	Stomach Smooth Muscle	stomach
36	chr12:106133000-106135200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:106133000-106135400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr12:106133000-106135400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:106133200-106133400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:106133200-106133400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr12:106133200-106133400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr12:106133200-106133400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr12:106133200-106133400	Genic enhancers	HSMMtube	muscle
44	chr12:106133200-106133600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:106133200-106133600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
46	chr12:106133200-106134000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:106133200-106134400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr12:106133200-106135400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:106133200-106135600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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