Variant report

Variant	rs532842717
Chromosome Location	chr12:105093192-105093193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv560051	chr12:105092213-105110554	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105067800-105096000	Weak transcription	K562	blood
2	chr12:105080400-105131800	Weak transcription	NHEK	skin
3	chr12:105083600-105103600	Weak transcription	Placenta	Placenta
4	chr12:105085000-105097800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:105086200-105096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:105086400-105095600	Weak transcription	Fetal Heart	heart
7	chr12:105086400-105104400	Weak transcription	A549	lung
8	chr12:105086800-105103200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:105087800-105093800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:105087800-105094600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:105087800-105095600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:105087800-105096200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:105089000-105105600	Weak transcription	Esophagus	oesophagus
14	chr12:105089600-105095400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:105089800-105096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:105089800-105097400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:105090000-105093400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:105090000-105093400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr12:105090000-105095400	Weak transcription	Left Ventricle	heart
20	chr12:105090000-105095600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:105090000-105095600	Weak transcription	Right Ventricle	heart
22	chr12:105090000-105095800	Weak transcription	Fetal Stomach	stomach
23	chr12:105090000-105096000	Weak transcription	Adipose Nuclei	Adipose
24	chr12:105090000-105096200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:105090000-105096400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:105090000-105096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:105090000-105096400	Weak transcription	Primary T cells from cord blood	blood
28	chr12:105090000-105096400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:105090000-105096400	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:105090000-105097400	Weak transcription	Fetal Kidney	kidney
31	chr12:105090000-105097800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:105090000-105102000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:105090000-105104400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:105090000-105104600	Weak transcription	Fetal Brain Female	brain
35	chr12:105090000-105104600	Weak transcription	HMEC	breast
36	chr12:105090200-105093200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr12:105090200-105093200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:105090200-105093200	Weak transcription	GM12878-XiMat	blood
39	chr12:105090200-105093400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:105090200-105113400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:105090400-105093600	Weak transcription	Primary B cells from cord blood	blood
42	chr12:105090400-105097000	Weak transcription	Fetal Thymus	thymus
43	chr12:105090400-105113400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:105090600-105095000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:105090600-105097800	Enhancers	NHDF-Ad	bronchial
46	chr12:105091600-105094000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:105091600-105094200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:105091800-105093400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:105091800-105094000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:105091800-105096200	Enhancers	NHLF	lung

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