Variant report

Variant	rs539536523
Chromosome Location	chr12:12172544-12172545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3435183	chr12:12172285-12172763	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12164600-12172600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:12164800-12179800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:12168000-12172600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:12170000-12176800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:12170400-12175600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:12170600-12173600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:12170600-12176400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:12170600-12177600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:12170600-12177800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:12170800-12176400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:12170800-12179200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:12171000-12173400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:12171000-12173600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:12171200-12176400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:12171200-12185400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:12171400-12174600	Weak transcription	GM12878-XiMat	blood
17	chr12:12171400-12175400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:12171400-12175400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:12171400-12185200	Weak transcription	Spleen	Spleen
20	chr12:12171600-12175400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:12171600-12175400	Weak transcription	Fetal Thymus	thymus
22	chr12:12171800-12175800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:12171800-12185000	Weak transcription	Esophagus	oesophagus
24	chr12:12172200-12175600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:12172200-12175600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:12172200-12184600	Weak transcription	Thymus	Thymus
27	chr12:12172400-12173200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:12172400-12173200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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